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Background/Objective: To utilize ultra‐widefield multimodal imaging (Optos PLC) to describe novel findings in degenerative retinoschisis. Methods: This retrospective, non‐comparative case series of degenerative retinoschisis received a waiver of consent from Advarra IRB, Protocol 00066379. Initial ultra‐widefield pseudocolour, colour‐separated, autofluorescence, and peripheral OCT imaging were analysed for characterizing features. Results: In total, 139 eyes were included. A hyporeflective reticular pattern associated with retinoschisis was seen on pseudocolour images in 39% of cases, but visible in 53% on green‐separated images. Fine hyper‐reflective foci were observed in 49%. In 27%, retinoschisis was confirmed with OCT. Conclusions: Ultra‐widefield pseudocolour and green‐separated images are valuable for the diagnosis and characterization of degenerative retinoschisis. The findings described may prompt the evaluation of subtle retinoschisis with peripheral OCT. [ABSTRACT FROM AUTHOR]

X-linked juvenile retinoschisis (XLRS) is a hereditary retinal degeneration affecting young males caused by mutations in the retinoschisin (RS1) gene. We generated human induced pluripotent stem cells (hiPSCs) from XLRS patients and established three-dimensional retinal organoids (ROs) for disease investigation. This disease model recapitulates the characteristics of XLRS, exhibiting defects in RS1 protein production and photoreceptor cell development. XLRS ROs also revealed dysregulation of Na/K-ATPase due to RS1 deficiency and increased ERK signaling pathway activity. Transcriptomic analyses of XLRS ROs showed decreased expression of retinal cells, particularly photoreceptor cells. Furthermore, relevant recovery of the XLRS phenotype was observed when co-cultured with control ROs derived from healthy subject during the early stages of differentiation. In conclusion, our in vitro XLRS RO model presents a valuable tool for elucidating the pathophysiological mechanisms underlying XLRS, offering insights into disease progression. Additionally, this model serves as a robust platform for the development and optimization of targeted therapeutic strategies, potentially improving treatment outcomes for patients with XLRS. [ABSTRACT FROM AUTHOR]

Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X‑linked recessive inheritance due to RS1 gene mutations. This study aims to uncover the RS1 mutation spectrum in a cohort of 22 X‑linked retinoschisis cases from South India and emphasizes the genotypic and phenotypic associations within patients harboring only RS1 mutations. Methods: A total of 22 probands were suspected of having X‑linked retinoschisis. All study subjects underwent ophthalmic investigations, including assessments of visual acuity, fundus examination, optical coherence tomography (OCT), and electroretinogram (ERG). RS1 gene screening was conducted using Sanger sequencing, and the pathogenicity of the variants was assessed through Sorting Intolerant from Tolerant (SIFT) and PolyPhen‑2 in silico tools. Results: The study found that the probands had an average visual acuity of 0.79 ± 0.39 log of minimum angle of resolution (logMAR), ranging from 0.17 to 1.77. During fundus examination, the probands exhibited a characteristic spoke wheel‑like pattern in the macular region. Furthermore, OCT analysis revealed distinct alterations in the inner retinal microstructure, and ERG results consistently showed a reduction in b‑wave amplitude. Eventually, Sanger sequencing results showed hemizygous mutations in the RS1 gene in only 12 probands, including a novel missense mutation in the RS1 gene’s signal sequence. Conclusion: This study provides valuable insights into the spectrum of RS1 mutations in X‑linked retinoschisis probands from South India. It reveals distinct genotypic–phenotypic associations and highlights the clinical manifestations associated with the disease pathogenesis. [ABSTRACT FROM AUTHOR]

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype–phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors. [ABSTRACT FROM AUTHOR]

To report the causes of childhood-onset uveitis in a tertiary pediatric ophthalmology hospital in Egypt. Retrospective study of the medical records of all uveitis patients following up at a tertiary pediatric ophthalmology hospital in Egypt from January 2017 to December 2020. The present study included 388 patients. The most common anatomical category was intermediate uveitis (30.4%), and around half of these children had pars planitis. This was followed by panuveitis (25.5%), posterior uveitis (23.5%), and anterior uveitis (20.6%), in decreasing frequency. Juvenile idiopathic arthritis, toxoplasmosis, and Vogt–Koyanagi–Harada syndrome were the most common causes of anterior uveitis, posterior uveitis, and panuveitis respectively. Cataract (40.5%), glaucoma (33.8%), and cystoid macular edema (31.6%) were the most frequent ocular complications. The present report provides the relative prevalence of the different anatomical types of uveitis, as well as their main causes in a cohort of Egyptian patients with childhood-onset uveitis. [ABSTRACT FROM AUTHOR]

Background: To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients. Methods: Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing with ETDRS charts, spectral domain optical coherence tomography, and microperimetry (MP) twice a day, at 9 a.m. and 4 p.m., to measure changes in central retinal thickness (CRT), macular volume (MV), average threshold (AT), and fixation stability parameters (P1 and P2). Results: At baseline, the BCVA of the 14 eyes of 8 patients amounted 0.73 (± 0.23) LogMAR. Between timepoints, the BCVA increased in 3.21 letters (p =.021), the AV improved in 1.84 dB (p =.03, 9.73%), the CRT decreased in 24.43 µm (p =.007, − 4.05%), and the MV dropped in 0.27 µm3 (p =.016, − 2.68%). P1 and P2 did not variate. The collapse of the MCS led to the reduction of macula thickness. CRT at baseline correlated with the decrease of CRT (Spearman's ρ: − 0.83 [p =.001]). Age and change of BCVA, CRT, and AV did not correlate among one another. Eyes with disrupted ellipsoid zone showed a more prominent change in CRT (p =.050). Photoreceptor outer segment length and integrity of the external limiting membrane and cone outer segment tips were not associated with BCVA, AT, or CRT variation. Conclusion: Eyes of treatment-naïve XLRS patients show diurnal macular thickness and function changes. Eyes with pronounced macular thickness show a greater reduction of the MCS. These results should be taken into consideration in upcoming clinical trials in XLRS. Trial registration number: Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2020–10,328. [ABSTRACT FROM AUTHOR]

Introduction: An 18-year old highly myopic woman presented with bilateral retinoschisis associated with a unilateral macular hole in the right eye and vitreomacular traction in the left eye. Methods: Genetic studies disclosed a heterozygous pathogenic variant in the KCNJ13 gene was identified (c.484C>T (p.Arg162Trp)), consistent with a diagnosis of snowflake vitreoretinal degeneration (SVD). Results: While there were no corneal guttata, juvenile cataracts, or perivascular sheathing in this case, salient features of SVD included a fibrillar vitreous structure, crystalline retinopathy, and flattened optic nerves. The patient developed a FTMH in the left eye at 17 months follow up, followed by a rhegmatogenous retinal detachment (RRD) requiring 2 surgical repairs. Conclusion: This case expands on the spectrum of clinical features in SVD, including retinoschisis and FTMH. It also characterizes optical coherence tomography findings in this rare disease entity. We emphasize the importance of using panel-based genetic testing to clinically distinguish and further define atypical vitreoretinopathies. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the clinical characteristics, internal correlations and risk factors for different locations of retinoschisis (RS) in an elderly high myopia (HM) population. Methods: A total of 448 eyes (304 participants) were analysed and classified into no retinoschisis (no‐RS), paravascular retinoschisis (PVRS), peripapillary retinoschisis (PPRS) and macular retinoschisis (MRS) groups. Each participant underwent comprehensive ophthalmic examinations, and posterior scleral height (PSH) was measured in swept‐source optical coherence tomography images. PSH, vitreoretinal interface abnormities and myopic atrophy maculopathy (MAM) were compared among groups. Results: Retinoschisis was found in 195 (43.5%) eyes, among which 170 (37.9%) had PVRS, 123 (27.5%) had PPRS, and 103 (23.0%) had MRS. MRS was found to be combined with PVRS in 96 of 103 (93.2%) eyes. MAM was one of the risk factors for RS (odds ratio [OR], 2.459; p = 0.005). Higher nasal PSH was the only risk factor for PVRS (OR, 9.103; p = 0.008 per 1‐mm increase). Elongation of axial length (AL) (OR, 1.891; p < 0.001 per 1‐mm increase), higher PSH in nasal (OR, 5.059; p = 0.009 per 1‐mm increase) and temporal (OR, 13.021; p = 0.012 per 1‐mm increase), epiretinal membrane (ERM; OR, 2.841; p = 0.008) and vitreomacular traction (VMT; OR, 7.335; p = 0.002) were risk factors for MRS. Conclusions: Paravascular retinoschisis is the most common type of RS in HM and MRS is mostly combined with PVRS. MAM is one of the risk factors for RS. In addition to longer AL and higher PSH, the presence of VMT and ERM also play an important role in the formation of MRS. [ABSTRACT FROM AUTHOR]

Purpose: To characterize retinoschisis in a large series using spectral domain optical coherence tomography (SD-OCT), including rates of schisis detachment and macular involvement in cases of peripheral retinoschisis. Methods: In this retrospective, cross-sectional, descriptive study, consecutive patients with diagnosis of retinoschisis in at least one eye were identified using billing codes between January 2012 and May 2021. Charts were reviewed to verify diagnosis of retinoschisis or schisis detachment. SD-OCT and clinical examination was used to identify frequency of macular schisis, peripheral schisis, and schisis detachment, and characteristics of retinoschisis including frequency of inner and outer wall breaks, distribution of layers split, and location of involvement of peripheral pathology. SD-OCT images of insufficient quality were excluded from the pertinent analysis. Results: 281 eyes of 191 patients were included. 195 (69.4%) eyes had peripheral retinoschisis, 15 (5.3%) had schisis detachment, 66 (23.5%) had macular retinoschisis alone, and 5 (1.8%) had combined macular and peripheral retinoschisis. Of the eyes without macular retinoschisis, 7.0% had schisis detachment. Of the remainder, 4 (2.1%) had inner wall breaks, and 24 (12.3%) had outer wall breaks. In eyes with peripheral retinoschisis, splitting occurred in the outer plexiform layer in 58.9%, the retinal nerve fiber layer in 8.9%, a combination of layers in 26.8%, and indeterminate in 5.4%. Location of peripheral involvement was inferotemporal in 58.5%, superotemporal in 14.1%, temporal in 13.7%, and inferior in 12.2%. Conclusion: SD-OCT helped to identify the presence of schisis detachment and breaks, confirmed diagnosis in challenging cases, and demonstrated the layer of splitting within the neurosensory retina. This series represents the largest such study to date. [ABSTRACT FROM AUTHOR]

Juvenile glaucoma and retinoschisis are rare diseases alone. They occur bilaterally with early onset, resulting in severe visual loss. Juvenile glaucoma is mainly described in males, with high intraocular pressure, and juvenile retinoschisis is characterized by the formation of retinal cysts. This case reports a 16-year-old male patient with progressive visual loss that presents an association of both pathologies, which is an uncommon and severe involvement. After adequate diagnosis and drug treatment, the condition improved and did not require surgical intervention. [ABSTRACT FROM AUTHOR]

Myopic traction maculopathy (MTM), one of the complications of pathologic myopia, is a spectrum of pathological conditions that are attributed to tractional changes in the eye characterized by retinoschisis, lamellar or full thickness macular hole, and foveal retinal detachment. Considering the global public health burden of MTM and pathologic myopia, it is important to understand these sight-threatening complications and their associations. We conducted an evidence-based review of the prevalence and natural history of MTM and associated risk factors. The prevalence of MTM in the general population is low, but is increased among high myopes. MTM is associated with preretinal tractional structures, myopic refractive error and axial elongation, posterior staphyloma, dome-shaped macula, chorioretinal atrophy, and myopic macular degeneration. The clinical course of MTM tends to be stable; however, MTM may progress, resulting in visual acuity deterioration, although spontaneous improvement also occurs. The associations of MTM progression include vitreous traction, location, and extent of MTM, and lamellar macular hole-specific factors. More high-quality population-based studies that assess MTM prevalence and natural history are needed. [ABSTRACT FROM AUTHOR]

Degenerative retinoschisis is a common condition characterized by elevation of the inner layers of the peripheral retina. While uncomplicated retinoschisis (i.e., with no associated retinal layer breaks) is almost invariably a benign process, retinal detachment associated with isolated outer layer breaks (termed schisis-detachment) is fairly common. Historically, schisis-detachment has been treated with a variety of interventions, ranging from retinopexy to intraocular surgery. Based on published descriptions of the natural history of the disease, these interventions are likely unnecessary in many cases and may place the patient's vision at unnecessary risk. Progressive symptomatic schisis-related retinal detachment, on the other hand, is a vision threatening condition that requires intervention. While clinical examination remains the mainstay of diagnosis, recent advances in multimodal imaging can provide supplemental information in subtle cases and may prove valuable for long-term disease monitoring. When evaluating patients with peripheral retinal elevation, it is important for ophthalmologists to make an accurate diagnosis and to understand the risk-benefit ratio associated with intervention. Thus, we summarize the current literature on the natural history, clinical and imaging diagnosis, and surgical management of degenerative retinoschisis and its related complications. [ABSTRACT FROM AUTHOR]

X-linked retinoschisis is an inherited retinal disease caused by mutations in the RS1 gene; however, a genotype-phenotype correlation regarding the mutation type or location within the RS1 gene and clinical characteristics of the patients has not been established yet. This is the first report documenting the genotypes and ophthalmological findings in a Turkish population with confirmed RS1 mutations. Fifty eyes of 25 male patients were included in the study. RS1 mutation analysis was performed by DNA sequencing. Retrospective analysis of ocular examinations and SD-OCT scans were applied. The major mutation was c.422 G > A (p.Arg141His, exon 5) affecting 14 patients (56%) and c.531 T > G was the only non-sense mutation out of 7 pathogenic variants. At presentation; the mean age was 24.6 ± 16.2 (4–72) years, mean visual acuity (VA) was 0.61 ± 0.32 (logMAR, 0.10–1.30). Forty-six (92%) eyes had macular, 16 eyes (32%) had peripheral retinoschisis. None of the eyes had macular scar, whereas 7 eyes (14%) had macular atrophy. The most frequent location of schisis was inner nuclear layer (37.5%). The eyes with disruption of ellipsoid zone (EZ) or external limiting membrane (ELM) had worse VA (for EZ, 0.65 ± 0.25 versus 0.45 ± 0.34, logMAR, 31 versus 17 eyes, p =.013; for ELM, 0.66 ± 0.27 versus 0.45 ± 0.31, logMAR, 30 versus 18 eyes, p =.008). Seven different pathogenic variants in the RS1 gene were identified; with c.422 G > A (p.Arg141His) as the most frequent variant and c.531 T > G as only non-sense mutation. Having EZ or ELM disruption were the significant factors affecting VA. [ABSTRACT FROM AUTHOR]

Purpose: To determine factors significantly correlated with the failure of macular reattachment by pars plana vitrectomy (PPV) without laser photocoagulation of the optic disc margin to treat optic disc pit (ODP) maculopathy. Design: Retrospective, interventional case series. Methods: We reviewed the medical records of 35 consecutive patients with ODP maculopathy who underwent PPV without laser photocoagulation. PPV with the creation of a posterior vitreous detachment (PVD) was performed in 34 eyes. An epiretinal membrane and internal limiting membrane present in the other eye with a PVD were removed. Patients were followed for 12–193 months (mean 58 months) after surgery. The main outcome measures were the postoperative rate of retinal reattachment and best-corrected visual acuity. The preoperative clinical characteristics of the successful cases were compared to those of the unsuccessful cases. Results: A complete retinal reattachment was attained in 31 of 35 eyes and it required about one year. The 4 other eyes that did not achieve a macular reattachment after the primary PPV underwent additional therapies. The factors that were significantly associated with a failure of a retinal reattachment after primary PPV were the presence of a retinal detachment connected to the optic disc (P < 0.001) and the presence of preoperative headaches (P = 0.030). Conclusions: Clinicians should be aware that the presence of a preoperative macular detachment connected to the optic disc margin and preoperative headaches are indicators for an unsuccessful outcome of PPV without laser photocoagulation in eyes with ODP maculopathy. [ABSTRACT FROM AUTHOR]

Keywords: Refractory macular edema; retinoschisis; subfoveal plaque EN Refractory macular edema retinoschisis subfoveal plaque 2706 2708 3 07/15/22 20220701 NES 220701 X-linked retinoschisis (XLRS) is an inheritable juvenile retinal dystrophy.[[1]] The prevalence ranges from 1:5,000 to 1:20,000, making it one of the most common juvenile-onset retinal degeneration in males involving the macula.[[2]] The pathognomic feature is foveal schisis (98-100% cases) with some displaying typical bicycle-wheel patterns of radial streaks extending from the fovea. The boy was presumed to have XLRS on the basis of fundus features and multi-modal imaging was suggested to investigate the cause of macular edema in RE.{Figure 1} Optical coherence tomography (OCT) revealed retinoschisis involving multiple layers of macula BE, with predominant involvement of the outer plexiform-inner nuclear layer complex. Rao et al.[[4]] reported the largest series yet of the exudative variant with 11 eyes in 18 patients of XLRS that showed signs of subretinal exudation. [Extracted from the article]

Purpose: Until now, the diagnosis of optic nerves hemorrhages in abusive head trauma (AHT) has been obtained only in the postmortem setting. The aim of the IRB-approved study was to assess the presence of optic nerves hemorrhages in AHT patients using 3D-SWI. Methods: Thirteen children with a final confirmed multidisciplinary diagnosis of AHT underwent coronal and axial 3D-SWI imaging of the orbits. The presence of optic nerve sheath (ONS) hemorrhages was defined by thickening and marked 3D-SWI hypointensity of the ONS, resulting in mass effect upon the CSF space. Optic nerve (ON) hemorrhages were defined by areas of susceptibility artifacts in the ON parenchyma. Superficial siderosis was defined by susceptibility artifact coating the ON. Furthermore, data about post-traumatic deformity of the ONS at the head of the optic nerve were collected. Results: The average age of the population was 7.9 ± 5.9 months old. The average GCS was 11.8 ± 4.5. The male to female ratio was 7:6. ONS hemorrhages were identified in 69.2% of cases. Superficial siderosis and ON hemorrhages were identified in 38.5 and 76.9% of cases, respectively. 3D-SWI also depicted traumatic deformity of the ONS at the level of the optic nerve head in 10 cases (76.9%). No statistical correlations were identified between RetCam findings and 3D-SWI findings or GCS and ON hemorrhages. Conclusion: This research shows that dedicated MRI with volumetric SWI of the orbits can depict hemorrhages in the ON, ONS, and ONS injury, in AHT victims. [ABSTRACT FROM AUTHOR]

X-linked juvenile retinoschisis is a hereditary eye disease that belongs to the group of retinal dystrophy. This study presents the results of the search for mutations in the RS1 gene in 48 unrelated men diagnosed with X-linked juvenile retinoschisis. Molecular genetic diagnosis was found in 77% of the probands. Revealed were 27 different pathogenic variants, including eight novel, previously not described. The spectrum of mutations in the RS1 gene in a Russian cohort of patients is characterized by high diversity and the absence of major mutations. [ABSTRACT FROM AUTHOR]

Purpose: To determine the efficacy of displacing a prepapillary membrane during vitrectomy assisted by intraoperative optical coherence tomography (OCT) to treat eyes with optic disc pit maculopathy. Method: Pars plana vitrectomy was performed with 27-gauge instruments on 4 eyes of 4 consecutive patients for optic disc pit maculopathy with retinoschisis and foveal detachment. After creating a posterior vitreous detachment, the prepapillary membrane was made visible by brilliant blue G staining. The membrane was peeled from the central retinal vessel and inverted and placed over intraretinal clefts or stuffed into the optic disc pit. These procedures were guided by intraoperative OCT. A gas tamponade and peripapillary laser was not used. The preoperative and postoperative OCT images and surgical outcomes were evaluated. Result: Intraretinal clefts connected to an inner retinoschisis were detected at the edge of the optic disc pit in 3 eyes with intraoperative OCT and 2 eyes with preoperative OCT. The foveal detachment and retinoschisis were resolved completely in all 4 eyes at postoperative 13 to 15 months. The postoperative vision improved from 20/25 to 20/18 at the final examination in all eyes. Conclusion: Intraoperative OCT can detect intraretinal clefts at the edge of the optic disc pit, and the OCT images are helpful in guiding the peeling and placement of the prepapillary membrane to achieve anatomical and visual recovery. [ABSTRACT FROM AUTHOR]

In abusive head trauma victims, optic nerves and optic sheath hemorrhages are commonly associated with retinal hemorrhages. Until now, optic nerve and optic nerve sheath hemorrhages related to abusive head trauma have been identified by exenteration and soft-tissue sectioning during postmortem examination. In 2013, we proposed the use of tailored high-resolution susceptibility-weighted imaging (SWI) MRI sequences to depict retinal hemorrhages in lieu of the gold standard dilated fundus exam, in select patients, and in 2017 we showed how the same high-resolution sequences used in the coronal plane can depict ruptured bridging veins in abusive head trauma. This paper describes the new potential diagnostic application of high-resolution axial and coronal SWI in the diagnosis of optic nerve and optic sheath hemorrhages. [ABSTRACT FROM AUTHOR]

Abusive head trauma (AHT) is frequently accompanied by dense/extensive retinal hemorrhages to the periphery with or without retinoschisis (complex retinal hemorrhages, cRH). cRH are uncommon without AHT or major trauma. The study objectives were to determine whether cRH are associated with inertial vs. contact mechanisms and are primary vs. secondary injuries. This retrospective study utilized a de-identified PediBIRN database of 701 children <3-years-old presenting to intensive care for head trauma. Children with motor vehicle related trauma and preexisting brain abnormalities were excluded. All had imaging showing head injury and a dedicated ophthalmology examination. Contact injuries included craniofacial soft tissue injuries, skull fractures and epidural hematoma. Inertial injuries included acute impairment or loss of consciousness and/or bilateral and/or interhemispheric subdural hemorrhage. Abuse was defined in two ways, by 1) predetermined criteria and 2) caretaking physicians/multidisciplinary team's diagnostic consensus. PediBIRN subjects with cRH frequently experienced inertial injury (99.4 % (308/310, OR = 53.74 (16.91–170.77)) but infrequently isolated contact trauma (0.6 % (2/310), OR = 0.02 (0.0004–0.06)). Inertial injuries predominated over contact trauma among children with cRH sorted AHT by predetermined criteria (99.1 % (237/239), OR = 20.20 (6.09—67.01) vs 0.5 % (2/339), OR = 0.04 (0.01–0.17)). Fifty-nine percent of patients with cRH, <24 h altered consciousness, and inertial injuries lacked imaging evidence of brain hypoxia, ischemia, or swelling. cRH are significantly associated with inertial angular acceleration forces. They can occur without brain hypoxia, ischemia or swelling suggesting they are not secondary injuries. [ABSTRACT FROM AUTHOR]

Purpose: Retinoschisis (RS), rhegmatogenous retinal detachment (RRD) and combined RS retinal detachment (RSRD) may resemble clinically and pose a diagnostic challenge. This study investigates the role of the fundus autofluorescence (AF) in differentiating RS, RRD and RSRD. Methods: Fundus AF changes of 34 eyes diagnosed with RRD, 30 eyes with RS and 12 eyes with RSRD were retrospectively analysed. Ultra‐widefield AF (UW‐AF) image intensities obtained with the Optomap 200Tx were interpreted as hypo‐, hyper‐ and isoautofluorescent or a mixed pattern with hypo‐ and hyperautofluorescence over and at the posterior margin (PM) of RRD, RS and RSRD. Results: All RS eyes revealed isoautofluorescence over the area of RS, and nine eyes (30%) showed hypoautofluorescent PM. Among RRD, acute (≤2 weeks) and chronic (>2 weeks) RRD demonstrated distinct AF characteristics. Sixty‐two per cent of RRD eyes had acute RRD. From those, 16 eyes (76%) demonstrated hypoautofluorescence over the detached area and 19 (90%) eyes with hyperautofluorescent PM. Sixty‐two per cent of chronic RRD eyes demonstrated isoautofluorecence over the detached area. Eight RSRD eyes (67%) revealed hyperautofluorescence in the detached area. The positive predictive value (PPV) for hypoautofluorescence over the area of subretinal fluid (SRF) in RRD was 95%. The PPV for hyperautofluorescence over the area of SRF in RSRD was 100% and for isoautofluorescence for schitic area in RSRD and RS was 76%. Conclusion: The UW‐AF can be a useful non‐invasive adjuvant tool to distinguish between RRD, RS and RSRD. Hypo‐ or hyperautofluorescence over the area of interest and hyperautofluorescent PM indicates the presence of SRF. [ABSTRACT FROM AUTHOR]

Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. Physical and complete ophthalmic examination, molecular diagnosis. Over nine years of follow-up, the subject manifested progressive signs and symptoms of KSS, including external ophthalmoplegia/strabismus, ptosis, pigmentary retinopathy, corneal edema, Type I diabetes mellitus, gut dysmotility, sensorineural deafness and heart block. At age 21 he was incidentally found to have retinoschisis on optical coherence tomography that remained stable over three years follow-up. Sequencing of the RS1 gene revealed no pathogenic variants, effectively ruling out co-existing X-linked retinoschisis. These findings suggest retinoschisis may be a rare manifestation of KSS. A trial of a carbonic anhydrase inhibitor was frustrated by coexisting corneal edema associated with the condition. [ABSTRACT FROM AUTHOR]

X-linked retinoschisis (XLRS) is an inherited retinal condition that leads to schisis of the retina. In the past, treatment trials for XLRS have generally used OCT monitoring of the schitic cavities as the primary structural outcome measure and best corrected visual acuity as the primary functional outcome. Here, we report two cases of genetically confirmed XLRS with marked fluctuations in OCT morphology in the absence of treatment. Given this demonstration of spontaneous fluctuation in retinal structure on OCT in XLRS we suggest that alternative measures of retinal function should be used in future therapeutic trials in XLRS. [ABSTRACT FROM AUTHOR]

Retinoschisis can be found in the fovea or the retinal periphery, either of which may be present in isolation, or in conjunction with each other. Foveal schisis may be congenital, acquired, or secondary to an associated ocular pathology such as optic pit, glaucoma, or pathological myopia. The visual acuity is dependent on the cause of the schisis and appropriate treatment is variable based on likelihood for progression and visual impact. There are many useful considerations and tools for evaluation and monitoring that can be used to determine the aetiology and prognosis of these retinal findings. Retinoschisis is a diagnosis of exclusion, and pathology must be ruled out to accurately make the diagnosis. A review of two cases and following discussion summarises the various types, manifestations, presentations, and complications of retinoschisis and their evaluation, management, and appropriate monitoring or treatment. These cases lead a dialogue on the presentation and aetiology of retinoschisis, important considerations for differential diagnoses, and appropriate management. [ABSTRACT FROM AUTHOR]

Purpose: Uncorrected refractive errors are the first cause of vision impairment worldwide. High myopia is a frequent cause of sight‐threatening chorioretinal complications. The aim of this study was to evaluate the prevalence of macular complications, visual impairment and blindness in patients with myopia. Methods: A cross‐sectional multicenter study carried out in French eye clinics mainly dedicated to refractive errors. Myopia severity was defined as mild (−0.5 to −3 D), moderate (−3 to −6 D), high (−6 to −10 D) and very high (more than −10 D). Macular complications related to myopia included lacquer cracks, myopic choroidal neovascularization, chorioretinal atrophy and retinoschisis. The prevalences of macular complications, blindness and vision impairment were estimated with respect to degree of myopia and age. Eligibility criteria were myopia on the left eye of −0.5 D or more. Exclusion criteria included any missing data related to subjective refractive error, age, gender and any history of cataract or refractive surgery. Results: Data files from 198 641 myopic individuals with a mean age of 34 years (SD: 15 years) were analysed. The prevalence of mild, moderate, high and very high myopia was, respectively, 65.95%, 26.14%, 6.72% and 1.19%. The prevalence of macular complications in the high and very high myopia groups was 0.5% [0.39–0.64] and 4.27% [3.49–5.17]. The prevalence of blindness or vision impairment was observed in 10.10% [8.91–11.39%] of the very high myopic group. At 60 years old or over, the prevalences of blindness or vision impairment were, respectively, 9.75% [7.91–11.85%] and 25.71% [21.00–30.87%] in the high and very high myopia groups. Conclusions: This multicenter cross‐sectional study provides new insights in terms of prevalence of macular complications related to myopia. To our knowledge, this is one of the largest European studies focusing on individuals with myopia, particularly on the macular complications and the functional consequences in relation to myopia. [ABSTRACT FROM AUTHOR]

Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis. Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or peripheral retinoschisis as assessed by optical coherence tomography (OCT), wide-field fluorescein angiography, clinical ophthalmoscopy, and color fundus photography. Results: The eyes of the three JXLRS patients with peripheral retinoschisis had no macular schisis or atrophy on OCT. ERG was available in one patient and showed no reduced b-waves on scotopic combined rod-cone response. Conclusions: RS1 mutations can cause a macular-sparing JXLRS phenotype. The diagnosis of JXLRS should be considered for young males presenting with peripheral retinoschisis even if there is no evidence of macular schisis. [ABSTRACT FROM AUTHOR]

Goldmann-Favre syndrome (GFS) is a rare vitreoretinal degeneration related to retinal nuclear receptor mutation. GFS has a wide variety of clinical features, often misdiagnosed as retinitis pigmentosa, juvenile retinoschisis, cystoid macular edema or clumped pigment retinopathy. In this study, we presented a case of Goldman-Favre vitreoretinal degeneration in 30 year-old man who was wrongly diagnosed and treated as cystoid macular edema. [ABSTRACT FROM AUTHOR]

The aim of this study was to report the outcome of topical brinzolamide 1% treatment on macular cystoid lesions resembling retinoschisis in 4 patients diagnosed with posterior microphthalmia. The medical records of 4 patients with a clinical diagnosis of posterior microphthalmia who had started topical brinzolamide 1% treatment were reviewed. Visual acuity, central foveal thickness, and cystoid lesion area percentage were used to evaluate treatment response. In the follow-up, there was a decrease in central foveal thicknesses and cystoid lesion area percentages in both eyes of 3 of the patients. However, 1 patient showed increases in both parameters. Visual acuity remained stable in 5 eyes and increased in 3 eyes. Topical brinzolamide treatment may have some positive effects on macular cystoid lesions in selected cases. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the associations between macular complications and demographic, clinical, and optical coherence tomography characteristics (OCT) of highly myopic eyes with a dome-shaped macula (DSM). Methods: We retrospectively analyzed the findings of 90 patients (167 eyes) with DSM who had vertical and horizontal OCT scans between January 2011 and June 2018. Demographic data, clinical characteristics, and OCT-derived morphologic parameters were determined, and the associations of these parameters with macular complications were evaluated. Results: Among 167 eyes, the following patterns were observed: horizontally oriented DSM (71%), symmetric DSM (27%), and vertically oriented DSM (2%). Complications or abnormalities involving the macular area were detected by OCT in 63% (106/167) of the eyes. Specific complications were as follows: choroidal neovascularization (CNV) (37.1%), macular retinoschisis (9.0%), serous retinal detachment (RD) (7.8%), epiretinal membrane (4.2%), lamellar macular hole (3.0%), and macular hole (2.4%). The eyes with CNV had thinner choroid (P < 0.001) and lower macular bulge height (P = 0.04). The eyes with serous RD had thicker choroid (P < 0.001) and higher macular bulge height (P < 0.001). Serous RD was significantly more common when the macular height was greater than 250 μm (P = 0.001) and if the DSM pattern was vertical (P < 0.001). Conclusions: A greater bulge height and thicker choroid in highly myopic eyes with DSM may be protective against the development of myopic CNV. A thicker choroid, a higher macular bulge (> 250 μm), and a vertical DSM pattern are associated with a risk of developing serous RD. [ABSTRACT FROM AUTHOR]

Purpose: To describe the clinical characteristics and courses for eyes with retinoschisis associated with pachychoroid. Methods: A retrospective interventional case series study. Twenty-one eyes (18 patients) with pachychoroid that showed retinoschisis without evidence of neovascularization that had been followed for 1 year were included. Multimodal imaging, including fundus photography, spectral-domain optical coherence tomography (OCT) with an enhanced depth protocol, fluorescein angiography (FA), and indocyanine green angiography (ICGA), was provided and treatment outcomes were analyzed. Results: Focal RPE atrophy was present below or adjacent to the schisis in all eyes, and the mean atrophy area was 1.38 ± 1.37 mm2. Intraretinal fluids of the schisis originated from the atrophy area and involved the retinal layer which was correlated with the extent of outer retinal defect. Dilated Haller layer vessel and choroidal vascular hyperpermeability were observed under the area with atrophy in all eyes. After 1 year of treatment, 11 eyes (52%) still had fluid and 7 of them had fluid at the macula. Nonetheless, the mean central macular thickness decreased (144.4 to 121.8, P < 0.001), visual acuity improved (0.65 to 0.47, P = 0.026), and subfoveal choroidal thickness decreased (442.2 μm to 394.9 μm, P < 0.001). Conclusion: Atrophy of RPE can cause retinoschisis in eyes with pachychoroid. The intraretinal fluid that originated from underlying choroid and choroidal thickness decreased as intraretinal fluid diminished. [ABSTRACT FROM AUTHOR]

Background: Intraretinal cystoid spaces (IRCS) are fluid-filled spaces seen in some retinal dystrophies and often treated with carbonic anhydrase inhibitors. The purpose of this study is to report an unexpected bilateral improvement in the IRCS after discontinuation of therapy. Material and Methods: We identified from our records 23 patients with retinal dystrophy and IRCS who had been treated with topical and/or oral carbonic anhydrase inhibitors. All subjects had regular follow-up with OCT and previous genetic testing. Results: We identified four (17%) patients who experienced a bilateral and symmetrical paradoxical improvement in IRCS size and visual acuity after discontinuation of carbonic anhydrase inhibitors. Two were mutations in RS1, one in CLN3 and another in NR2E3. All patients were followed for at least three years (range 39–63 months). None had systemic abnormalities. Conclusions: Patients with IRCS may exhibit a paradoxical response after discontinuation of carbonic anhydrase inhibitors. Although the pathophysiology of these phenomena is unclear, stopping treatment may be an option in patients who cease to improve or get worse on treatment. [ABSTRACT FROM AUTHOR]

A 11‐year‐old neutered male Labrador retriever‐cross dog was presented to the University of Missouri‐Columbia Veterinary Ophthalmology Service for subtle visual deficits. Indirect ophthalmoscopy revealed a smooth, bullous elevation in the superior‐temporal retina OU. Optical coherence tomography (OCT) performed OU showed inner retinal separation consistent with retinoschisis. Electroretinography (ERG) revealed markedly reduced b‐wave amplitudes in the more severely affected eye (OD) compared with the less severely affected eye (OS). The most notable reductions were in the rod response and 30‐Hz flicker b‐waves OD which were approximately 50% of the corresponding amplitudes OS. Implicit times, particularly the a‐wave implicit times, were noticeably longer OD compared with OS. Lesions remained unchanged over 4 months at which time the dog was humanely euthanized for reasons unrelated to the ocular disease. Significant light microscopic ocular findings were bilateral superior temporal peripheral retinoschisis. The separation of the retinal tissue was similar between eyes and effectively divided the outer plexiform layer. In addition, thinning of the surrounding retinal layers was present. To the authors' knowledge, this is the first case of canine retinoschisis diagnosed with OCT, evaluated with electroretinography, and confirmed with light microscopic examination. History, clinical, and diagnostic findings, with the absence of disease progression over time, are analogous with cases of acquired senile retinoschisis in humans. [ABSTRACT FROM AUTHOR]

Although X-linked retinoschisis is a common retinal degeneration condition, the presence of a large retinal cyst obscuring the visual axis in an infant is a rare presentation. Herein, we describe such a case of a child who presented to us with the diagnosis of retinal detachment in both the eyes. However, following multimodal imaging and electrophysiology, the child was found to have bilateral juvenile retinoschisis with a large retinoschisis cyst involving the visual axis seen intraoperatively in the left eye. A limbal approach followed by lensectomy was used to excise the inner retinal layer of the cyst. The intracystic fluid was then drained and the stretched retinal vessels were endocauterized and severed without causing any iatrogenic outer retinal breaks and retinal detachment. The correct diagnosis and meticulous preoperative planning of the surgical procedure helped us manage this challenging case with a favorable anatomical and functional outcome. [ABSTRACT FROM AUTHOR]

An 81-year-old man with bilateral progressively blurry vision and optic disc swelling was referred for evaluation. Examination and ancillary testing confirmed a diagnosis of bilateral vitreopapillary traction accompanied by unilateral tractional retinoschisis in the right eye. Pars plana vitrectomy was performed to release the traction in both the eyes. Visual acuity improved in the right eye and stabilized in the left eye. Retinoschisis in the right eye resolved. The visual field improved in both the eyes although the left eye demonstrated a persistent hemifield defect likely attributable to a prior optic neuropathy. Distinguishing vitreopapillary traction optic neuropathy from nonarteritic anterior ischemic optic neuropathy is discussed. [ABSTRACT FROM AUTHOR]

Background: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT). Methods: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p.m., and 4 p.m. within 24 h. Results: All patients demonstrated increased measures of central foveal thickness in the morning with gradual decrease through the day (9-43%). Major changes were observed between 9 a.m. and 1 p.m. in the central foveal thickness. Conclusion: The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the retinal features and distribution of paravascular abnormalities (PVAs) and their relationship with retinoschisis in eyes with high myopia. Methods: One hundred and fifty‐two eyes of 88 patients with high myopia [refractive error greater than −6 dioptres (D) or axial length (AL) ≥26.5 mm] who had undergone comprehensive ophthalmic examinations were evaluated in this cross‐sectional study. Multiple optical coherence tomography (OCT) scans were performed to study the microstructural alterations adjacent to the retinal vascular arcades and the entire macular area. The presence and distribution patterns of various PVAs, retinoschisis and the association between these parameters were analysed. Results: Of the 152 highly myopic eyes, PVAs were detected by OCT in 126 eyes (82.9%), including paravascular microfolds in all 126 eyes, paravascular cysts in 109 eyes (71.7%) and paravascular lamellar holes in 44 eyes (28.9%). All three types of PVAs were observed more frequently along the temporal vascular arcades than along the nasal vascular arcades (p < 0.005). Seventy‐eight eyes (51.3%) were identified with retinoschisis at retinal vascular arcades, most frequently in the inner plexiform layer (IPL) and along temporal arcades. Eyes with all three types of PVAs (microfolds, cysts and lamellar holes) had the highest incidence of retinoschisis at vascular arcades (p < 0.001). Multivariate analysis indicated that age, the AL, presence of paravascular microfolds and cysts, and simultaneously existence of all three types of PVAs were associated with an increased risk for retinoschisis at vascular arcades. Macular retinoschisis was detected in 25 eyes (19.8%) and presented with splitting of the outer retina in all cases. All seven eyes with entire macular area retinoschisis (S4 grade) were accompanied by retinoschisis at vascular arcades within multiple layers, including outer retinoschisis, IPL schisis and inner limiting membrane (ILM) detachment. Conclusion: Our findings indicated that all three types of PVAs and different types of retinoschisis were most frequently observed along the temporal vascular arcades. Eyes with paravascular microfolds and cysts, and those with all three paravascular lesions may in risk of developing retinoschisis at vascular arcades. [ABSTRACT FROM AUTHOR]

Purpose: To describe early structural and functional retinal changes in a patient with Cohen syndrome. Methods: A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome. She underwent a complete ophthalmic examination, full-field flash electroretinography and retinal imaging with spectral domain optical coherence tomography. Results: Central vision was central, steady, and maintained. There was bilateral myopic astigmatic refractive error. Fundus exam was notable for dark foveolar pigmentation, but no obvious abnormalities of either eye. Spectral domain optical coherence tomography cross sections through the fovea revealed a normal appearing photoreceptor outer nuclear layer but loss of the interdigitation signal between the photoreceptor outer segments and the apical retinal pigment epithelium. Retinoschisis involving the inner nuclear layer of both eyes and possible ganglion cell layer thinning were also noted. There was a detectable electroretinogram with similarly reduced amplitudes of rod- (white, 0.01 cd.s.m−2) and cone-mediated (3 cd.s.m−2, 30 Hz) responses. Conclusion: Photoreceptor outer segment abnormalities and retinoschisis may represent the earliest structural retinal change detected by spectral domain optical coherence tomography in patients with Cohen syndrome, suggesting a complex pathophysiology with primary involvement of the photoreceptor cilium and disorganization of the structural integrity of the inner retina. [ABSTRACT FROM AUTHOR]

The purpose of this report is to describe the case and management of an unexplained vitreous haemorrhage that occurred after repeated roller-coaster riding. The authors inadvertently demonstrate the value of observation over immediate surgery in certain situations and review the literature on vitreoretinal and other ocular complications after roller-coaster riding. A 26-year-old male presented 12 h after riding high-velocity roller-coasters with a left vitreous haemorrhage. A hazy view of the retina and B-scan revealed a bullous area of superior-temporal retinal lifting. A diagnosis of a presumed macula-on retinal detachment was made and the patient was listed for a pars plana vitrectomy retinal detachment repair. An abnormal clotting result, which was subsequently found out to be erroneous, ultimately delayed the procedure. During this delay the vision and retinal view improved to an extent whereby the diagnosis of a retinoschisis with an intraretinal cyst was made and surgery was avoided. The patient regained 6/6 vision, without the need to undergo surgery. Historically the management of an unexplained vitreous haemorrhage was observation with serial B-scans. The current evidence and practice for treating unexplained vitreous haemorrhage have since moved towards early surgical intervention. The authors highlight that despite the current trend, a place remains for conservative management for selected cases. [ABSTRACT FROM AUTHOR]

Purpose: To report the clinical characteristics of abusive head trauma (AHT) in Taiwan and identify the risk factors associated with mortality of these patients.Methods: Children with clinically diagnosed AHT from January 1, 2000, to October 31, 2015 were reviewed. The demographic data, clinical features, and associated retinal and radiologic findings were analyzed. The multivariable logistic regression model analysis was performed to identify the risk factors associated with in-hospital mortality.Results: A total of 75 children were included. The mean age was 7.31 ± 6.57 months (range, 1-36 months). Retinal hemorrhages were detected in 69 children with AHT (92%). The majority of retinal hemorrhages were characterized by hemorrhagic numbers higher than ten (74.7%), multi-layered (54.7%), and extension beyond the posterior pole to the peripheral retina (73.3%). Twenty children (26.7%) had macular retinoschisis. As a direct result of AHT, ten children died in the hospital (13.3%). Logistic regression showed that respiratory distress or apnea (adjusted odds ratio [OR] = 22.46; 95% confidence interval [CI], 2.24-225.33; P = .0082), vomiting (adjusted OR = 11.94; 95% CI, 1.31-108.403; P = .0276), retinal finding of macular retinoschisis (adjusted OR = 8.9; 95% CI, 1.01-78.65; P = .0493), and the presence of subarachnoid hemorrhage (SAH) (adjusted OR = 15.17; 95% CI, 1.40-64.84; P = .0255) were independently associated with mortality.Conclusions: Respiratory distress or apnea, vomiting, SAH, and macular retinoschisis are independently associated with mortality in abusive head trauma. A complete ophthalmologic examination with the immediate visualization of intraocular injury should be performed to clarify the likelihood of child abuse and predict a potential poor neurologic outcome. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the clinical outcomes of vitrectomy with induction of posterior vitreous detachment for the treatment of optic disc pit maculopathy.Methods: We retrospectively evaluated medical records and imaging studies of 11 consecutive patients with optic disc pit maculopathy who underwent vitrectomy at Sacco University Hospital, Milan, Italy, between October 2008 and December 2015. Induction of a posterior vitreous detachment (PVD) was the aim of our surgery. Intravitreal injection of ocriplasmin (Jetrea, Thrombogenics USA, Alcon/Novartis EU) was performed before surgery in three eyes of very young patients. Gas tamponade (sulfur hexafluoride (SF6) 20%) was used only in the first five cases. Main outcome measures were anatomic results as determined by optical coherence tomography and postoperative best-corrected visual acuity (BCVA).Results: Before surgery, a macular detachment was present in 10 eyes and a lamellar hole of the outer retina was detected in 9 eyes. Intraoperatively, two iatrogenic paramacular holes developed in two patients during posterior hyaloid dissection. Time to PVD induction appeared to be greatly reduced in the three patients injected with ocriplasmin before surgery. Patients were followed up for a mean of 38 months (range, 18-84) after surgery. Postoperatively, one patient (9%) developed a retinal detachment that was repaired with one additional vitrectomy. Complete resolution of fluid in and under the fovea was achieved in 8 of the remaining 10 eyes (80%) without additional treatment. Reduction of the inner retinal fluid always preceded the decrease of outer retinal fluid, which in turn anticipated the absorption of macular detachment. The macular detachment resolved in a mean of 14 months after surgery. Postoperative BCVA (mean, 0.63) improved significantly compared with preoperative BCVA (mean, 0.27) (P = 0.005). Nine eyes (82%) had a postoperative BCVA of 0.5 or better.Conclusion: Vitrectomy with induction of PVD is a safe and successful therapeutic option for the treatment of optic disc pit maculopathy. The adjunct of ocriplasmin might facilitate the induction of PVD and reduce the risk of iatrogenic retinal holes. [ABSTRACT FROM AUTHOR]

Purpose: Our purpose was to determine the effectiveness of vitrectomy in resolving the macular retinoschisis in an eye with glaucomatous optic neuropathy and also to determine the natural course of macular retinoschisis.Methods: This was a retrospective case series of patients who were diagnosed with macular retinoschisis and glaucomatous optic neuropathy. Fourteen eyes of 13 patients were studied. Patients with high myopia, vitreomacular traction syndrome, and the pit macular syndrome were excluded.Results: There were three men and ten women, and 12 had unilateral and one had bilateral macular retinoschisis. Vitrectomy was performed for a serous retinal detachment, macular hole, or severe visual loss in five eyes. The mean follow-up time was 68.8 months in these five eyes, and the macular retinoschisis was resolved and the best-corrected visual acuity (BCVA) at the final visit was significantly improved in all eyes (P = 0.007). However, two of these fiv e eyes developed a macular hole and required a second vitrectomy. Of the nine eyes without treatment with a mean follow-up time of 29.0 months, the BCVA at the final visit remained unchanged from the baseline BCVA in all eyes. The macular retinoschisis was resolved or reduced in three eyes without treatment.Conclusions: Vitrectomy was effective for the resolution of macular retinoschisis in eyes with glaucomatous optic neuropathy and serous retinal detachment or macular hole or severe reduction of the BCVA. Macular retinoschisis can be resolved without a reduction of the BCVA in some cases without treatment. [ABSTRACT FROM AUTHOR]

Purpose To differentiate retinoschisis ( RS) from non-acute retinal detachment (na RD) in clinical routine using optical coherence tomography ( OCT), describe unique morphological OCT characteristics and monitor disease progression. Methods This prospective, observational study included 64 eyes of 44 patients with either RS or na RD. Patients were examined clinically and using Heidelberg Spectralis OCT®, Topcon DRI OCT® and Cirrus HRA- OCT® over 2 years with follow-up at 1, 3, 6, 12 and 24 months. Main outcomes were typical morphologic findings of RS and na RD described in OCT. Progression was monitored using Spectralis OCT® follow-up mapping and an eye-tracking method. Results Forty-seven eyes were diagnosed with RS and 17 with na RD. Optical coherence tomography (OCT) provided a definite diagnosis in four eyes diagnosed clinically as uncertain. Seventy-seven percentage of eyes with RS were atrophic in the inner leaf (IL), whereas 41% with na RD showed cystoid alteration. A discontinuation of the IL clinically observed as an inner-layer break ( ILB) could be imaged. We described a tissue retraction within the outer leaf ( OL), which corresponded to outer-layer breaks ( OLBs) in clinical examinations in nine eyes (19%). Conclusion Optical coherence tomography (OCT) is a reliable method to differentiate and monitor RS from na RD. Morphological characteristics, including ILB and OLB, could be accurately illustrated in RS. [ABSTRACT FROM AUTHOR]

Purpose: To describe the course of retinoschisis in patients with pars planitis (PP).Methods: Chart review of PP patients seen July 2012-September 2014 at a single institution.Results: Included were 34 patients (68 eyes). Uveitis was bilateral in all cases. Thirteen eyes (19%) developed retinoschisis. In six patients (86%), the schisis was bilateral. The average follow-up of patients with schisis was 7 years; the average best-corrected visual acuity (BCVA) was 20/22 at last follow-up. Schisis was noted to develop or progress in patients with both active and inactive inflammation. Five eyes of five patients underwent vitrectomy; three for disease control, with scleral buckle to reduce residual traction. Two eyes required vitrectomy for retinal detachment with progressive schisis, despite inactive uveitis. Seven eyes remained stable without intervention.Conclusions: Retinoschisis is a common complication in patients with PP. It is typically bilateral, and may develop or progress, despite control of uveitis. [ABSTRACT FROM AUTHOR]

The combination of subdural hemorrhage (SDH), retinal hemorrhage (RH), and encephalopathy, or the presence of severe retinal hemorrhages alone in infants, is often attributed to and has been stated to be pathognomonic for abusive head trauma (AHT) or shaken baby syndrome. These beliefs have been challenged, because the same constellation of findings has been identified in accidental head injuries and natural diseases, and most if not all of the studies that support the concept of diagnostic specificity have serious flaws in their methodology. Presented here are two cases of severe retinal hemorrhages with retinoschisis associated with subdural hemorrhage in a natural disease and with severe cerebral edema in an accidental head injury. These cases challenge the dogma that severe retinal hemorrhages with retinoschisis are pathognomonic for AHT. [ABSTRACT FROM AUTHOR]

Background: In this study, we present a juvenile retinoschisis patient with developmental delay, sensorineural hearing loss, and reduced axial tone. X-linked juvenile retinoschisis (XLRS) is a retinal dystrophy, most often not associated with systemic anomalies and also not showing any locus heterogeneity. Therefore it was of interest to understand the genetic basis of the condition in this patient. Materials and methods: RS1 gene screening for XLRS was performed by Sanger sequencing. Whole genome SNP 6.0 array analysis was carried out to investigate gross chromosomal aberrations that could result in systemic phenotype. In addition, targeted next generation sequencing (NGS) was employed to determine any possible involvement of X-linked syndromic and non-syndromic mental retardation genes. This NGS panel consisted of 550 genes implicated in several other rare inherited diseases. Results: RS1 gene screening revealed a pathogenic hemizygous splice site mutation (c.78+1G>T), inherited from the mother. SNP 6.0 array analysis did not indicate any significant chromosomal aberrations that could be disease-associated. Targeted resequencing did not identify any mutations in the X-linked mental retardation genes. However, variations in three other genes (NSD1, LARGE, and POLG) were detected, which were all inherited from the patient's unaffected father. Conclusions: Taken together, RS1 mutation was found to segregate with retinoschisis phenotype while none of the other identified variations were co-segregating with the systemic defects. Hereby, we infer that the multisystemic defects harbored by the patient are a rare coexistence of XLRS, developmental delay, sensorineural hearing loss, and reduced axial tone reported for the first time in the literature. [ABSTRACT FROM AUTHOR]

Purpose: To analyze the structures of schisis in eyes with hereditary juvenile retinoschisis using en-face optical coherence tomography (OCT) imaging. Methods: In this retrospective observational study, we reviewed the medical records of patients with hereditary juvenile retinoschisis who underwent comprehensive ophthalmic examinations including swept-source OCT. Results: OCT images were obtained from 16 eyes of nine boys (mean age ± standard deviation, 10.6 ± 4.0 years). The horizontal OCT images at the fovea showed inner nuclear layer (INL) schisis in one eye (6.3 %), ganglion cell layer (GCL) and INL schisis in 12 eyes (75.0 %), INL and outer plexiform layer (OPL) schisis in two eyes (12.5 %), and GCL, INL, and OPL schisis in one eye (6.3 %). En-face OCT images showed characteristic schisis patterns in each retinal layer, which were represented by multiple hyporeflective holes in the parafoveal region in the GCL, a spoke-like pattern in the foveal region, a reticular pattern in the parafoveal region in the INL, and multiple hyporeflective polygonal cavities with partitions in the OPL. Conclusions: Our results using en-face OCT imaging clarified different patterns of schisis formation among the GCL, INL, and OPL, which lead to further recognition of structure in hereditary juvenile retinoschisis. [ABSTRACT FROM AUTHOR]

We present the three-dimensional (3D) spectral-domain optical coherence tomography (SD-OCT) findings of schisis-like maculopathy associated with structural changes of the optic nerve (ON) head as well as the treatment outcomes of a case of advanced glaucoma. In addition to ophthalmological examination, B-scan and 3D-SD-OCT images of the ON head, peripapillary retina, and the macula were obtained. The B-scan images only detected typical retinoschisis findings. However, the 3D-SD-OCT images of the ON head revealed defects of various sizes, shapes, and depths at the outer wall of the prelaminar and laminar regions of the ON canal. The 3D images were able to establish that these defects were both adjacent to and interconnected with the retinal layers. The patient successfully received 3D-SD-OCT-guided thermal laser treatment that is used in congenital optic disc pits complicated with macular schisis. In brief, 3D-SD- OCT is very useful for demonstrating the ON head defects that can lead to schisis-like maculopathy in cases of advanced glaucoma. [ABSTRACT FROM AUTHOR]

Aims: X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions. Since transmission is X-linked, males are always affected and females are usually carriers. The identification of female carriers is always important and poses a technical challenge. Therefore, we sought to develop a multiplex ligation dependent probe amplification (MLPA)-based method to identify deletions or duplications in this gene. We then used our assay to study a large XLRS family. Methods: We designed six probes specific for each RS1 exon and then optimized and validated our method using control samples with known gene deletions. In the XLRS family, RS1 gene copy number variation was assessed by 'home-made' MLPA analysis and by single nucleotide polymorphism (SNP) array analysis using the CytoScan HD Array. Direct sequencing was used for deletion breakpoint mapping. Results: Our assay detected all deletions in control samples. All affected males of the family were positive for a deletion of exon 2 of the RS1 gene (RS1:NM_000330:c.53-?_78+?del). Carrier females were also identified. Conclusion: Our method is easily replicated, reliable, and inexpensive and allows female carriers to be detected. This is the first report of deep characterization of a whole exon deletion in the RS1 gene. [ABSTRACT FROM AUTHOR]

Besides cystoid macular edema due to a blood-retinal barrier breakdown, another type of macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be detected on optical coherence tomography but not on fluorescein angiography. Various causes may disrupt retinal cell cohesion or impair retinal pigment epithelium (RPE) and Müller cell functions in the maintenance of retinal dehydration, resulting in cystoid spaces formation. Tractional causes include vitreomacular traction, epiretinal membranes and myopic foveoschisis. Surgical treatment does not always allow cystoid space resorption. In inherited retinal dystrophies, cystoid spaces may be part of the disease as in X-linked retinoschisis or enhanced S-cone syndrome, or occur occasionally as in bestrophinopathies, retinitis pigmentosa and allied diseases, congenital microphthalmia, choroideremia, gyrate atrophy and Bietti crystalline dystrophy. In macular telangiectasia type 2, cystoid spaces and cavitations do not depend on the fluid leakage from telangiectasia. Various causes affecting RPE function may result in NVCM such as chronic central serous chorioretinopathy and paraneoplastic syndromes. Non-exudative age macular degeneration may also be complicated by intraretinal cystoid spaces in the absence of fluorescein leakage. In these diseases, cystoid spaces occur in a context of retinal cell loss. Various causes of optic atrophy, including open-angle glaucoma, result in microcystoid spaces in the inner nuclear layer due to a retrograde transsynaptic degeneration. Lastly, drug toxicity may also induce cystoid maculopathy. Identifying NVCM on multimodal imaging, including fluorescein angiography if needed, allows guiding the diagnosis of the causative disease and choosing adequate treatment when available. [ABSTRACT FROM AUTHOR]