Search

Purpose: To investigate the prevalence, features, and risk factors of macular retinoschisis (MRS) in highly myopic eyes and their morphological features in a Chinese population., Design: Population-based, cross-sectional study. From the Beijing Eye Study 2011, a total of 213 highly myopic eyes from 129 participants were included., Methods: All participants underwent spectral-domain optical coherence tomography with a macula cube scan of 30°×30°centered in the fovea. High myopia was defined as a refractive error ≤-6 diopters or an axial length ≥26.0 mm. MRS presence and its subtypes were assessed based on location, and affected retinal layers were evaluated. Prevalence, features, and associated factors of MRS and its subtypes in highly myopic population were assessed., Results: Of 213 highly myopic eyes (129 participants), MRS was observed in 48 eyes, with a prevalence of 22.5% (95% CI, 16.9-28.6) per eye, or 36 participants with 27.9% (95% CI, 20.5-35.7) per subject. In addition to well-documented factors such as older age and higher myopia, the prevalence of MRS was found to be related with a higher intraocular pressure (P = .013, odds ratio [OR], 1.25; 95% CI, 1.05-1.48), a thinner subfoveal choroidal thickness (P = .006, OR, 0.86; 95% CI, 0.77-0.96), a wider Gamma zone (P = .003, OR, 1.99; 95% CI, 1.05-3.11), the presence of glaucoma (P = .010, OR, 3.37; 95% CI, 1.34-8.48), and the presence of epiretinal membrane (P = .023, OR, 3.13; 95% CI, 1.17-8.36) after multivariate analysis. Eyes with advanced high myopia (P = .021) and wider gamma zone (P = .005) were more likely to develop foveal MRS. Eyes with glaucoma tended to have a higher prevalence of outer retinal MRS compared with inner retinal MRS (60.9% vs 36.0%), although the difference was not statistically significant (P = .06). MRS located in the foveal region or affecting the outer retina was related with a significantly worse best-corrected visual acuity (BCVA) compared with MRS that was perifoveally located or affected other regions (P < .05)., Conclusions: The prevalence of MRS was 27.9% among the elderly highly myopic population. MRS occurring in the foveal region or involving the outer retina demands increased vigilance due to its significant impact on BCVA. The findings contribute to a deeper understanding of MRS, offering insights into its mechanisms and vision prognosis., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

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., (© 2022 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)

Purpose: To provides the clinical and genetic characteristics of a series of Chinese patients with X-linked juvenile retinoschisis (XLRS) through multimodal imaging and next-generation sequencing., Methods: Thirty patients (60 eyes) from 29 unrelated families of Chinese origin with XLRS were screened using multigene panel testing, and underwent a complete clinical evaluation. All variants identified in this study and reported in the Human Gene Mutation Database were analysed., Results: Twenty-five distinct variants in the retinoschisin gene were identified, of which eight were novel, and one was de novo. Missense mutations were the most prevalent type, and mutation hot spot was localized in the discoidin domain. The mean Snellen best-corrected visual acuity was 0.28 ± 0.17. Of all eyes presenting with schisis, 92.86% had lamellar schisis and 62.5% had peripheral schisis. Schisis changes mostly involved inner and outer nuclear layers. X-linked juvenile retinoschisis (XLRS) patients had a high incidence of complications, and peripheral schisis was a risk factor for it. No obvious genotype-phenotype association was observed., Conclusion: This study provides comprehensive analyses of the genetic and clinical characteristics of XLRS in a cohort of Chinese patients. The fourth de novo mutation in RS1 was identified. And we show that XLRS has a wide spectrum of clinical characteristics; hence, molecular diagnosis is crucial for its diagnosis, differential diagnosis and genetic counselling. Peripheral schisis is a risk factor for the high incidence of complications, and no clear genotype-phenotype correlations were found., (© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Purpose: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio ≤1 in the scotopic flash ERG response, indicates relative inner retinal dysfunction. Causes vary depending upon the study population. In the Arabian Gulf, where inherited retinal disease is relatively prevalent, common diagnoses associated with electronegative ERGs have not been described. In this study, we report the frequency and causes of electronegative ERGs in a cohort of Emirati patients with inherited retinal disease., Methods: A retrospective review was performed of all full-field ERGs done for Emirati patients in the Ocular Genetics Service of Cleveland Clinic Abu Dhabi from January 2017 to December 2019. Those who had an electronegative ERG in at least one eye were included in the study., Results: Out of 137 patients, 9 probands (6.6%) had an electronegative ERG. The mean age at presentation was 24 years (range 5-48 years), and five patients (55.6%) were male. The final clinical diagnoses were congenital stationary night blindness (CSNB) (two TRPM1 -related and one Oguchi disease), X-linked retinoschisis (XLRS) (one genetically confirmed and two not genetically tested), cone-rod dystrophy (one CRX -related and one not genetically tested), and enhanced S-cone syndrome (ESCS) (one NRL -related). The one patient who did not have bilateral electronegative ERGs was a male with XLRS whose fellow eye had an unrecordable ERG., Conclusions: In this series of Emirati patients, an electronegative ERG was most commonly associated with the inherited retinal diseases recessive CSNB and XLRS. An electronegative ERG was noted in a case of NRL -related ESCS., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Middle East African Journal of Ophthalmology.)

Purpose: To investigate the microstructural characteristics of lattice degenerations before and after laser photocoagulation in myopic eyes by spectral-domain optical coherence tomography (SD-OCT)., Methods: Twenty-five eyes of 25 consecutive patients at the High Myopia Clinic of the National Taiwan University Hospital were retrospectively reviewed. Myopic eyes with peripheral lattice degeneration were enrolled in the study. Best-corrected visual acuity (BCVA), axial length measurement, color fundus photography was performed. SD-OCT analyses on the lattice degeneration were performed before and after prophylactic laser photocoagulation. All patients were followed for at least 6 months., Results: In total, 25 myopic eyes with peripheral lattice degenerations were studied. The mean refractive error was -9.92 ± 4.77 Diopters (D) with 21 (84%) of the eye being highly myopic (Over -6.0 D). The average axial length was 27.7 ± 1.86 mm. In these myopic eyes, retinal thinning was the most common finding (92%), followed by vitreoretinal traction (72%), retinoschisis (44%), vitreous membrane with deposits (36%), and retinal break with subretinal fluid (4%). A blunting effect of the vitreoretinal tractions was found after laser photocoagulation., Conclusion: To our knowledge we firstly investigated the pre- and post-laser photocoagulation microstructural changes using SD-OCT. It demonstrated a beneficial effect of retinoplasty, which released vitreoretinal tractions after laser photocoagulation. Combined with the findings of subtle microstructural retinal breaks and subretinal fluid, early prophylactic laser treatment warrants sincere consideration in these myopic eyes., (Copyright © 2018. Published by Elsevier B.V.)

Purpose: To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age., Design: Retrospective, observational study., Participants: Data from 52 consecutive male patients with molecularly confirmed XLRS were collected retrospectively., Methods: Complete clinical evaluation included best-corrected visual acuity, full-field electroretinography, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine full thickness of the retina and tomographic structural changes., Main Outcome Measures: Relationships between age, OCT, and visual acuity were assessed., Results: One hundred four eyes of 52 patients were included. The mean age at inclusion was 24±15 years (range, 3-57 years). The best-corrected visual acuity ranged from no light perception to 0.1 logarithm of the minimum angle of resolution (mean, 0.6±0.38 logarithm of the minimum angle of resolution). Macular schisis was found in 88% of eyes and macular atrophy was found in 11% of eyes, whereas peripheral schisis was present in 30% of eyes. A spoke-wheel pattern of high and low intensity was the most frequently observed fundus autofluorescence abnormality (51/94 eyes [54%]). The b-to-a amplitude ratio on bright-flash dark-adapted electroretinography was reduced significantly in 45 of 64 eyes (70%). Spectral-domain OCT was available for 97 eyes and showed foveoschisis in 76 of 97 eyes (78%), parafoveal schisis in 10 of 97 eyes (10%), and foveal atrophy in 11 of 97 eyes (11%). Mean central macular thickness (CMT) was of 373.6±140 μm. Cystoid changes were localized mainly in the inner nuclear layer (85/97 eyes [88%]). Qualitative defects in photoreceptor structures were found in most eyes (79/97 eyes [81%]), and the most frequent abnormality was an interruption of the photoreceptor cell outer segment tips (79/79 eyes [100%]). Older age correlated well with lower CMT (correlation coefficient [CC], -0.44; P < 0.001) and with lower photoreceptor outer segment (PROS) length (CC, -0.42; P < 0.001). Lower visual acuity correlated strongly with lower PROS length (CC, -0.53; P < 0.001)., Conclusions: This study underlined the wide variety of clinical features of XLRS. It highlighted the correlation between visual acuity, patient age, and OCT features, emphasizing the relevance of the latter as potential outcome measure in clinical trials., (Copyright © 2018 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Aim: To determine the incidence, presentation and outcomes of progressive sight-threatening retinal detachment (RD) complicating degenerative retinoschisis., Methods: We conducted the first prospective population-based epidemiological study of progressive schisis detachment over a 1-year period (2014-2015) in the UK. Case ascertainment was via monthly British Ophthalmological Surveillance Unit reporting cards sent to all ophthalmologists in the UK. For each reported case, data were collected using incident and 6 months follow-up questionnaires gathering information including demographic, presenting symptoms, retinal findings, primary management, primary outcome, secondary management and secondary outcome., Results: Fifty-five cases of progressive schisis RD were identified with similar age distribution to conventional rhegmatogenous RD (mean age 64.0 years, range 20-88), and male-to-female ratio of 2.3:1. The locations of schisis detachments were predominantly supratemporal (46.7%) and infratemporal (35.6%). At least 70% of schisis RD were associated with posterior vitreous detachment (PVD) at presentation and 21% with grade B-C proliferative vitreoretinopathy. Primary management consisted of pars plana vitrectomy (82%), scleral buckle (9%), observation (4%), laser (2%) and combined vitrectomy-buckle (2%). Primary reattachment rate was 70%. Final reattachment rate was 87% with mean best-corrected visual acuity of 0.49 Decimal (SD 0.34) for fovea-on and 0.42 Decimal (SD 0.29) for fovea-off schisis detachments at mean follow-up of 8.7 months (SE 1.0)., Conclusions: The estimated annual incidence of progressive schisis RD was 0.85 per million population (95% CI 0.64 to 1.11), equivalent to around 0.66% of all rhegmatogenous RD. PVD may play a key pathogenic role in the development of progressive schisis detachments. Surgical outcomes are inferior to those of conventional rhegmatogenous RD., Competing Interests: Competing interests: None declared., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

Objective: Apparent life-threatening events (ALTEs), often accompanied by choking, have been hypothesized to cause subdural hemorrhages (SDH), retinal hemorrhages, and brain injury. If the choking/ALTE hypothesis were true, children who present with ALTE and SDH would have fewer extracranial injuries suspicious for abuse than those with SDH and no ALTE. We aimed to compare the prevalence of suspicious extracranial injuries in children who have ALTE-associated SDH to those with non-ALTE SDH., Methods: We performed a 5-year retrospective case-control study of children <2 years of age with SDH evaluated by the Child Abuse Pediatrics program at a children's hospital. Subjects were classified as ALTE-associated SDH and non-ALTE SDH on the basis of ALTE definitions as proposed by the authors of the choking/ALTE hypothesis. The 2 groups were compared for the prevalence of suspicious extracranial injuries., Results: Of 170 study subjects, 64 had an ALTE-associated SDH and 106 had non-ALTE SDH. ALTE-associated SDH subjects were nearly 5 times more likely to have at least one suspicious extracranial injury (odds ratio [OR] 4.8, 95% confidence interval [CI] 1.9-12.1) and were more likely to have individual types of suspicious extracranial injuries, including retinoschisis (OR 4.1, 95% CI 1.6-10.2), high-specificity bruising (OR 2.6, 95% CI 1.3-4.9), and internal abdominal injury (3.5, 95% CI 1.2-9.9). Subjects with ALTE-associated SDH were also significantly more likely to die or have persistent neurologic impairment. All 10 subjects with a dysphagic-choking type ALTE had at least 1 suspicious extracranial injury., Conclusions: ALTEs are not supported as causative mechanisms for findings concerning abusive head trauma., (Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.)

Purpose: On clinical examination, it can be challenging to differentiate retinoschisis with outer retinal hole from schisis-detachment. This study examined the role of outer retinal hole spectral domain optical coherence tomography (SD-OCT) imaging in conjunction with imaging of the posterior schisis cavity edge in differentiating between these conditions., Methods: This is a retrospective case series. Out of 500 subjects with ICD-9 diagnoses of senile retinoschisis (361.10, 361.11, 361.12, 361.19) from January 2004 to December 2014, 62 had evidence of retinoschisis on fundus photography or optical coherence tomography (OCT). Six eyes of five patients had outer retinal holes documented by fundus photography (Optos, Marlborough, Massachusetts, USA) and SD-OCT (Carl Zeiss Meditec, Dublin, California, USA). The OCT morphology of outer retinal holes, subjects' symptomology, visual acuity, fundus examination, diagnosis and progression of the disease were analysed., Results: All five patients were women; the mean age was 67.4 years. The correct diagnosis was recorded in the chart in 50% of cases. All, but one, were asymptomatic with visual acuity ranging from 20/20 to 20/200. Three types of outer retinal hole OCT morphology in conjunction with imaging of the posterior schisis cavity edge were established. (1) Outer retinal hole with both edges down and attached to retinal pigment epithelium (RPE) and the edge of the cavity showing a split in neurosensory retina corresponded to isolated retinoschisis. The outer retinal hole with (2) one or (3) both edges detached from the RPE and the edge of the cavity showing complete separation of retina from RPE corresponded to schisis-detachment. One patient underwent scleral buckle surgery for schisis-detachment. Otherwise, no treatment was performed and no progression was noted with the longest OCT-documented follow-up of 26 months., Conclusions: The OCT morphology of outer retinal holes in conjunction with imaging of the posterior schisis cavity edge aids in the diagnosis of retinoschisis and schisis-detachment., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

To review the literature on epidemiology, clinical features, diagnostic imaging, natural history, management, therapeutic approaches, and prognosis of myopic foveoschisis. A systematic Pubmed search was conducted using search terms: myopia, myopic, staphyloma, foveoschisis, and myopic foveoschisis. The evidence base for each section was organised and reviewed. Where possible an authors' interpretation or conclusion is provided for each section. The term myopic foveoschisis was first coined in 1999. It is associated with posterior staphyloma in high myopia, and is often asymptomatic initially but progresses slowly, leading to loss of central vision from foveal detachment or macular hole formation. Optical coherence tomography is used to diagnose the splitting of the neural retina into a thicker inner layer and a thinner outer layer, but compound variants of the splits have been identified. Vitrectomy with an internal limiting membrane peel and gas tamponade is the preferred approach for eyes with vision decline. There has been a surge of new information on myopic foveoschisis. Advances in optical coherence tomography will continually improve our understanding of the pathogenesis of retinal splitting, and the mechanisms that lead to macular damage and visual loss. Currently, there is a good level of consensus that surgical intervention should be considered when there is progressive visual decline from myopic foveoschisis.

Purpose: To determine risk factors associated with retinal hemorrhage (RH) in pediatric abusive head trauma (AHT) suspects., Methods: Records of children aged 0-3 years hospitalized for suspected AHT from January 2007 to November 2011 were retrospectively reviewed in this case-control study. Children were classified into case and control groups based on RH presence. Medical history, presenting symptoms, reasons, and characteristics of injury were recorded. Logistic regression analysis was performed to identify risk factors., Results: A total of 168 children (104 males) were included. Of these, 103 were classified as cases and 65 as controls. The mean age (with standard deviation) was 9.3 ± 8.3 months (range, 1 day-36 months). Of the 103 cases, 22 (21%) had subretinal hemorrhage, 9 (9%) had retinoschisis, and 1 (1%) had vitreous hemorrhage. Children presenting with lethargy or altered mental status (P < 0.0001), subdural hemorrhage (P < 0.0001), and other radiologic findings (eg, cerebral ischemia, diffuse axonal injury, hydrocephalus, or solid organ injury; P = 0.01546) were likely to have RH. All 23 children with skull or nonskull fracture without intracranial hemorrhage did not have RH (P < 0.0001 both categories)., Conclusions: Retinal hemorrhages were almost never found in the absence of intracranial hemorrhage and not found in the setting of fracture without intracranial hemorrhage., (Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Purpose: To investigate the factors linked to foveoschisis in high myopia., Methods: Retrospective study of 113 patients (200 eyes) with high myopia was conducted between January 2010 and June 2012. Subjects underwent a complete ophthalmic examination, spectral domain optical coherence tomography (OCT TOPCON 2000) and ocular echography., Results: Of the 200 eyes, 22 (11%) had foveoschisis on OCT examination. On the basis of univariate analysis, five variables were associated with the pathologic changes, including spherical equivalent over 10 diopters (P=0.044), axial length over 30 mm (P=0.0028), macular chorioretinal atrophy (P=0.0009), posterior staphyloma (P=0.0007) and vitreoretinal interface factors (P=0.0002). In the multivariate analysis, three factors were independently associated with foveoschisis in high myopia: axial length (adjusted OR, 16.7; IC 95% 1.4-219.7, P=0.036), macular chorioretinal atrophy (adjusted OR, 13.2; IC 95%, 1.3-133.1, P=0.044), and vitreoretinal interface factors (adjusted OR, 36.1; IC 95%, 3.5-376.9, P=0.002)., Conclusions: In our study, axial length, macular chorioretinal atrophy, and vitreoretinal interface factors were independently associated foveoschisis in highly myopic eyes., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Degenerative lesions of the peripheral retina are present from teenage years onwards and increase with age. These abnormabilities are frequent, some of them being benign while others predispose to retinal tears and detachment. In the latter case, the lesions are rhegmatogenous and may justify prophylactic treatment by laser photocoagulation. We distinguish congenital lesions of the peripheral retina and intraretinal, chorioretinal and vitreoretinal degenerations. The holes and tears observed in 2% of the population consist of round atrophic holes, "horseshoe" tears, oral dialyses and giant tears., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Background and Objective: Macular anatomic abnormalities in high myopia are more frequent in the presence of posterior staphyloma. The objective was to determine the prevalence of foveoschisis, foveal detachment, vascular traction, epiretinal membrane (ERM), and macular hole (MH) in eyes with high myopia by spectral-domain optical coherence tomography., Patients and Methods: Prospective, observational study. Eyes with myopia greater than 8 diopters (D) were included. Results were analyzed using chi-square and Student's t tests., Results: The study included 116 eyes of 72 patients. Mean spherical equivalent: -15.04 ± 5.33 D. Mean axial length: 28.88 ± 2.31 mm. Foveoschisis was observed in 17 eyes (14.65%), vascular traction in 17 (14.65%), ERM in 13 (11.2%), lamellar MH in two (1.72%), and posterior staphyloma in 41 (35.34%). Presence of foveoschisis, vascular traction, and ERM was more frequent in eyes with posterior staphyloma (P = .0001)., Conclusion: Macular anatomic abnormalities were observed in 22.41% of eyes with high myopia and in 53.65% of eyes with posterior staphyloma., (Copyright 2013, SLACK Incorporated.)

To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families. Four of the ten mutations were novel, including c:176G>A (p:Cys59Tyr) in exon 3, c:531T>G (p:Tyr177X), c:607C>G (p:Pro203Ala) and c:668G>A (p:Cys223Tyr) in exon 6. These four novel mutations were not present in 176 normal individuals. The remaining six were recurrent mutations, including c:214G>A (p:Glu72Lys), c:304C>T (p:Arg102Trp), c:436G>A (p:Glu146Lys), c:544C>T (p:Arg182Cys), c:599G>A (p:Arg200His) and c:644A>T (p:Glu215Val). Our study expanded the mutation spectrum of RS1 and enriches our understanding of the molecular basis of XLRS.

Objective: To investigate the morphologic alterations at or around the blood vessels of the retinal vascular arcade by optical coherence tomography (OCT) in highly myopic eyes., Design: Observational case series., Participants: Two hundred eighty-seven eyes of 149 patients with high myopia (refractive error >/=-8.00 diopters [D] or axial length >26.5 mm) were studied. Fifty-six emmetropic (+1.00 to -1.00 D) eyes and 44 eyes with low (<-6.00 D) myopia were examined as controls., Methods: The participants had a complete ophthalmologic examination, including stereoscopic fundus observations and OCT examinations. Multiple OCT scans were made along the entire extent of the posterior vascular arcade and across the fovea in each patient., Main Outcome Measures: The incidence of paravascular retinal cysts, vascular microfolds, and paravascular retinal holes was determined. Retinoschisis at the retinal vessels and a macular retinoschisis were also evaluated., Results: In 287 eyes with high myopia, paravascular retinal cysts were detected in 142 eyes (49.5%), vascular microfolds in 128 eyes (44.6%), and paravascular retinal holes in 77 eyes (26.8%) by OCT. The paravascular retinal holes were partial-thickness lamellar holes in all of the patients; full-thickness holes were never detected. Vascular microfolds and paravascular lamellar holes were always accompanied by paravascular retinal cysts. Optical coherence tomography examinations revealed the presence of vitreoretinal traction on the inner walls of retinal cysts in sections adjacent to the retinal holes. In the 77 eyes with paravascular lamellar holes, 34 eyes (44.2%) were associated with internal limiting membrane (ILM) detachments and 15 eyes (19.5%) were associated with a macular retinoschisis. In fact, 15 of 18 eyes (83.3%) with a macular retinoschisis had paravascular lamellar holes. None of the 100 control eyes had these paravascular abnormalities., Conclusions: These findings indicate that different types of paravascular abnormalities are relatively common in highly myopic eyes. Our findings suggest that paravascular lamellar holes form when the inner wall of paravascular retinal cysts is avulsed by vitreous traction. The presence of paravascular lamellar holes might enhance the proliferative response of the ILM, and this might be an important causative factor for the development of a macular retinoschisis in highly myopic eyes.

Background: We undertook this study to demonstrate the incidence of vitreoretinal dystrophies in a Mexican population., Methods: This was a retrospective, observational, descriptive, transverse study. We analyzed the files of patients treated at the Retina Department of a medical center for state employees (ISSSTE) from January 1991 to December 2006 to obtain the incidence of vitreoretinal dystrophies., Results: We studied 36,300 patient files. We found an incidence of 0.008% for familial exudative vitreoretinal dystrophy, 0.008% for X-linked juvenile retinoschisis, 0.005% for Wagner disease and 0.005% for Goldmann-Favre disease. We present here a representative case of each type of dystrophy., Conclusions: Vitreoretinal dystrophies are uncommon diseases and are difficult to diagnose. Even though their incidence is low, the poor evolution to blindness requires identification of early signs in order to offer timely and opportune treatment.

X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secretory retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in cell-cell interactions and cell adhesion perhaps by interacting with beta2 laminin. Mutations cause loss of retinoschisin function by one of the three mechanisms: by interfering with protein secretion, by preventing its octamerisation or by reducing function in the secreted octamerised protein. The development of retinoschisis mouse models have provided a model system that closely resembles the human disease. Recent reports of RS1 gene transfer to these models and the sustained restoration of some retinal function and morphology suggest gene replacement may be a possible future therapy for patients.

Purpose: To characterize the prevalence and natural course of retinoschisis in a 14-year follow-up study., Design: Population-based cohort study., Participants: Nine hundred forty-six residents, aged 60 to 80 years, living in the Østerbro district of Copenhagen, participated in the prevalence study from 1986 to 1988. Excluding participants who died since baseline, 359 persons (97.3% of survivors) were reexamined after 14 years from 2000 to 2002. Of the 946 participants, 35 persons had prevalent retinoschisis in 1 or both eyes at baseline and 15 of these persons were alive at follow-up., Methods: Participants underwent an extensive ophthalmologic examination at Rigshospitalet, the National University Hospital of Copenhagen. Standardized protocols for the ophthalmologic examination included retinal evaluation by use of Goldmann's 3-mirror contact lens and ultrasonic B-scan of the retina. Data for the 20 persons who died were obtained from the National Patient Register and the National Central Person Register., Main Outcome Measures: The prevalence, presence, disappearance, and progression of peripheral retinoschisis over a period of 14 years., Results: The age-standardized prevalence of retinoschisis was 3.9% (95% confidence interval, 2.6-5.2) in persons aged 60 to 80 years. Gender and increasing age at baseline were not associated with the presence of retinoschisis. The retinal quadrant of maximal involvement was the inferior temporal (44.4%). One case of symptomatic progressive retinal detachment occurred during follow-up (2.2%). This was preceded by cataract surgery. Four persons developed retinoschisis in the contralateral eye during follow-up; therefore, the incidence of retinoschisis was 16% and bilaterality was 57.1% at follow-up. However, in 14 persons (73.7%) the retinoschisis remained unchanged. The disappearance rate was 8.8% (n = 4)., Conclusions: These findings indicate that senile retinoschisis primarily is bilateral, asymptomatic, and nonprogressive and should not be treated routinely. Cataract extraction is a possible risk factor for progressive retinal detachment.

Background: X-linked retinoschisis (XLRS), an X-linked recessive inherited degenerative retinopathy, is characterized by splitting in the nerve fibre layer and is caused by alterations in the RS1 gene. The aim of the present study was to review both the phenotypic features of XLRS and the mutation spectrum of the RS1 gene in an Australian cohort., Methods: Patients were recruited from ophthalmic and paediatric hospitals as well as private ophthalmic clinics across Australia. A cohort of 18 presumably unrelated families was identified. Twenty-two affected patients underwent clinical examination. Following DNA extraction all six exons of the RS1 gene were sequenced., Results: The median age at diagnosis was 8 years (range 1-43 years); the median age at review was 14 years (range 5-63 years). The median best-corrected visual acuity upon review was 6/24 (range 6/6-1/36). Typical foveal schisis was found in 90.1% eyes examined (39/43) while peripheral schisis was present in 30% of eyes (13/43). The scotopic blue b-wave amplitude ranged between 2% and 82% of the mean normal amplitude. Five novel mutations (61G-->T, Gly21X; 103C-->T, Gln35X; 327-329del, Cys110del; 527T-->C, Phe176Ser; 573Gdel, Pro192fs) and six previously identified missense mutations (304C-->T, Arg102Trp; 305G-->A, Arg102Gln; 336G-->C, Trp112Cys; 418G-->A, Gln140Arg; 598C-->T, Arg200Cys; 625C-->T, Arg209Cys) were found. The mutations present in codons 21 and 102 were each identified in two presumably unrelated pedigrees. One previously described point deletion (416Adel) was identified. Two pedigrees contained affected individuals where exons 2 or 3, respectively, were unable to be amplified, indicating the likely presence of a significant deletion. No mutation was found in the RS1 gene in two affected individuals from different pedigrees., Conclusion: Population genetic studies of XLRS have not previously been conducted in Australia. The phenotype associated with these mutations varied. The identification of each pedigree's specific mutation allows future determination of female carrier status for genetic counselling purposes. Further study into the refinement of the XLRS phenotype as well as the degree of intrafamilial phenotypic variation is required.