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Homozygous protein C deficiency is a rare hypercoagulability disorder. This study describes the ocular manifestations and the genetic background in a family with two affected children. This is a retrospective review of ophthalmic examinations, investigations, genetic testing, and blood work-up of two children with homozygous protein C deficiency from a single family. A family with a positive history of consanguineous marriage was found to have two affected children with homozygous protein C deficiency. Abnormal visual behavior was the presenting symptom. Both children had bilateral total tractional retinal detachments at presentation. Skin manifestations included episodes of discoloration and bruising. Laboratory work-up revealed absent protein C activity. Genetic testing confirmed the presence of a homozygous pathogenic mutation in protein C gene (NM_000312.3: c.1297G>A: p.Gly433Ser). Homozygous protein C deficiency should be considered in the differential diagnosis of early-onset tractional retinal detachment in infancy. Although rare, the ophthalmologist may be the first to encounter the condition, and treatment with protein C replacement or anticoagulants may be life-saving. Examination under anesthesia with fluorescein angiography and laser treatment early in life may be warranted to preserve vision. [ Ophthalmic Surg Lasers Imaging Retina . 2022;53:293–296. ]

Lojain AlBathi,1 Noura Abouammoh,2 Nayef AlSwaina,3 Hani B AlBalawi,4 Abdullah A Al Qahtani,5 Mohammed Talea,6 Sulaiman M AlSulaiman,7 Marwan A Abouammoh1 1Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 2Department of Community and Family Medicine, King Saud University, Riyadh, Saudi Arabia; 3Department of Ophthalmology, College of Medicine, Qassim University, Buraidah, Saudi Arabia; 4Department of Ophthalmology, College of Medicine, Tabuk University, Tabuk, Saudi Arabia; 5Department of Ophthalmology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; 6Department of Ophthalmology, Asir Central Hospital, Abha, Saudi Arabia; 7King Khaled Eye Specialist Hospital, Vitreoretinal and Uveitis Divisions, Riyadh, Saudi ArabiaCorrespondence: Marwan A AbouammohDepartment of Ophthalmology, College of Medicine, King Saud University, P. O. Box 245, Riyadh, 11411, Saudi ArabiaEmail dr.abouammoh@gmail.comPurpose: To identify the pitfalls in retinopathy of prematurity (ROP) screening leading to advanced disease at Ministry of Health (MOH) hospitals in Saudi Arabia.Methods: A qualitative deductive content analysis was used to study the phenomena of defects in ROP screening. A retrospective review of medical records of newborns presenting to two tertiary eye care centers with advanced ROP (stage 4 and 5) from January 2012 to June 2019 was completed. An extensive review of the original files at the referring hospitals was conducted, including the general condition and findings of ophthalmic examination and the sequence of follow-up until the infant was discharged/referred. Data analysis was completed using pre-structured categorization matrix.Results: Records of 29 infants with advanced stage ROP were identified. Only 13 medical records were available and obtained. The pitfalls in screening found in the study were failure to refer by the neonatologist, delayed follow-up by the ophthalmologist, failure to follow-up by the ophthalmologist, failure to diagnose by the ophthalmologist, poor documentation in patient files, unavailability of ophthalmologist, family negligence, lack of treatment and delayed referral to a higher center, and progression despite timely screening and management.Conclusion: Although clear ROP screening guidelines are available, implementations of these guidelines are suboptimal. This study showed that the most common defect in screening is physician’s inadequacy and unavailability. A proper network of competent ROP screening physicians in all neonatal intensive care units should be established. Centers for advanced ROP surgery should be allocated to deliver a timely surgical care if needed.Keywords: retinopathy of prematurity screening, pitfalls, content analysis

The Saudi Arabian Retinopathy of Prematurity National Telemedicine programme (SAROP) is a product of the National Committee for Retinopathy of Prematurity (ROP). The program includes ROP telescreening, diagnosis, and management of cases requiring treatment. Digital retinal images and filled ROP software requests were uploaded from 20 level-3 neonatal intensive care units (NICU) in the Kingdom of Saudi Arabia (KSA) to the King Khaled Eye Specialist Hospital server and the ROP telemedicine website. The data were accessed and reported by qualified retinal and pediatric ophthalmologists. Currently, retinal wide-angle digital cameras are available in 20 of the 31 level-3 NICUs of the Ministry of Health, Kingdom of KSA. This telemedicine approach is practical and effective in detecting and managing ROP cases. In the first 2.5 years, encouraging results were noticed with no unfavorable outcomes in the participating NICUs. Technical challenges were resolved promptly to ensure that the program ran smoothly. Therefore, this ideal state-of-the-art ROP telemedicine program could be also applied to similar and neighboring countries.

BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome. PATIENTS AND METHODS: A retrospective chart review of nine patients diagnosed with Pierson syndrome was ascertained. Details of ophthalmic history, ocular examination, retinal imaging, and surgical interventions were obtained during a median duration of 17 months of follow-up (range: 6 to 60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair. RESULTS: Sixteen eyes of nine patients were included. The axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm. Highly myopic features including tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes (100%), whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Surgical repair was performed in five out of seven eyes with rhegmatogenous retinal detachment (RRD). Recurrence was observed in all eyes, which required two to three procedures to achieve final reattachment. CONCLUSIONS: Combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization. [ Ophthalmic Surg Lasers Imaging Retina . 2020;51:618–627.]

To report a case of initial-onset acute Vogt-Koyanagi-Harada (VKH) presenting with internal limiting membrane (ILM) folds as the initial clinical sign.This is a retrospective case review.A 36-year-old woman with a recent history of periorbital injection of cosmetic filler who presented with sudden blurred vision in the right eye of a few hours duration. Initial fundus examination revealed only ILM folds in the right eye. Next day, the patient developed the full ophthalmic clinical picture of initial-onset acute VKH disease. Multimodal imaging showed features of ILM undulations and acute VKH disease. Uveitis was treated successfully with systemic corticosteroids combined with mycophenolate mofetil. The patient had complete resolution of posterior segment inflammation and exudative retinal detachment.ILM folds/undulations can be one of the early signs in acute VKH disease, and may serve as an important early clinical clue for this diagnosis.

A 37-year-old otherwise healthy male presented with paracentral scotoma in his right eye for 1 day with a history of having unprotected sex with multiple partners. The patient was diagnosed to have acute syphilitic posterior placoid chorioretinitis with multimodal imaging including spectral-domain optical coherence tomography and fundus fluorescein angiography. His condition improved after 2 weeks course of intravenous benzyl penicillin 1.2 g every 4 h in collaboration with infectious disease physician.

To describe the stages of development and natural course of a full-thickness macular hole (FTMH) in a patient with enhanced S-cone syndrome (ESCS). This study reported the serial ophthalmologic examinations and macular spectral-domain optical coherence tomography (SD-OCT) imaging over a period of 6 years in a 29-year-old man with ESCS confirmed by electroretinography (ERG) and NR2E3 molecular genetic analysis. At presentation, patient had night blindness and visual acuity (VA) of 20/300 in the right eye (OD) and 20/100 in the left eye (OS). Examination showed bilateral retinal midperipheral pigmentary deposits and a macular schisis in OD. Electroretinography and NR2E3 genetic analysis confirmed ESCS. A year later, a lamellar MH (LMH) appeared at the fovea in OD. SD-OCT confirmed it as inner retinal layer LMH with outer retinal preservation and displayed, on the temporal side of the LMH, prominent splitting between the inner and outer retinal layers. At 2 years, a focal defect in the ellipsoid zone appeared on SD-OCT, followed by split in the outer retinal layer creating a progressively expanding outer LMH. The latter had rolled edges which then fused with the inner LMH margins creating a single full-thickness FTMH. Over the next 4 years, enlargement of the FTMH with increased adjacent retinal splitting continued. No visible vitreous abnormalities or vitreoretinal traction forces were identified at any stage during follow-up. VA OD remained unchanged. This case illustrates that the clinical evolution of FTMH in ESCS may be progressive and likely involves degeneration and intraretinal, rather than vitreoretinal, traction. This should be kept in mind when considering surgical intervention in these cases.

To determine the practice pattern for treating giant retinal tear (GRT) related detachments, and their anatomic and visual outcomes with pars plana vitrectomy (PPV) with or without scleral buckling (SB).Retrospective cohort study.Eyes with GRT detachments repaired from 2008 to 2020 with at least 6 months of follow-up from 7 institutions in North and South America, Europe, and Asia.Eyes repaired using PPV versus PPV/SB were compared.Anatomic and functional outcomes.A comparable number of eyes underwent PPV (n = 101) and PPV/SB (n = 99). Except for history of developmental abnormalities, prior intraocular surgery, and lens status, no differences in baseline demographics, ocular characteristics, or intraoperative surgical adjuncts were observed. The overall single surgery anatomic success (SSAS) at 6 months and 1 year were similar between the groups (82.2% and 77.2% of PPV, and 87.9% and 85.7% of PPV/SB). When stratified by age, the 1-year SSAS rate was higher for PPV/SB (88.5%) than PPV (56.3%) (P = 0.03) for children18 years. For both children and adults, the mean best-corrected visual acuity (BCVA) at baseline did not differ between the PPV and PPV/SB groups. However, for children, mean BCVA at 1 year was better in the PPV/SB than PPV groups (P = 0.001) while for adults, no difference was found between the 2 groups. The mean time to the first redetachment was 7.9 months in the PPV group and 5.5 months in the PPV/SB group (P = 0.8). Proliferative vitreoretinopathy was the most common cause for redetachment (70.4% of PPV and 93.8% of PPV/SB in redetached eyes; P = 0.1). Postoperative complications were also similar between the 2 groups, including ocular hypertension, epiretinal membrane, and cataract formation.PPV and PPV/SB are equally popular among surgeons globally for managing GRT detachments and have comparable anatomic and visual outcomes in adults. In children, PPV/SB is superior to PPV for anatomic and functional success at 1 year. In adults, the relief of traction by the GRT may reduce peripheral traction and obviate the need for an SB. However, in children, a supplemental SB can be beneficial as complete vitreous shaving and posterior hyaloid detachment, and postoperative positioning, are difficult in this group.

Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery. Methods: Retrospective case report. Results: A 17-year old monocular female ...

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.

Purpose: To report acute photoreceptor layers loss in Behcet's disease and its anatomical recovery after treatment with systemic steroids, mycophenolate mofetil, and adalimumab. Methods: Case report. Results: A 16-year-old male who presented with an acute attack of Behcet's panuveitis along with loss of the ellipsoid zone (EZ) and interdigitation zone (IZ) on optical coherence tomography (OCT). Treatment resulted in complete recovery of photoreceptors and improvement in vision. Conclusion: Acute photoreceptor layers loss could be a manifestation of Behcet's uveitis and anatomical recovery may be achieved with aggressive and timely treatment.

Background In recent years, there was a rise in ocular injuries secondary to cosmetic laser-assisted hair removal. Purpose To assess the level of adherence to optical safety guidelines during laser-assisted hair removal performed by nurses or physicians in private practice. Methods A cross-sectional study was conducted at thirty-one private laser-assisted hair removal clinics. An electronic random number generator using a cluster random sampling technique was used to select the clinics. The Alexlazr™ (Candela Corp.) device operator's manual checklist was modified to collect data from laser device operators and patients by surveying the laser rooms, interviewing the patients, and observing the treatments. Results Ninety-four patients treated by different service providers were included from 31 private centers. All treatment sessions were delivered by trained nurses. Only 9.5% had acceptable adherence to optical safety guidelines during hair removal treatment, while the majority (90.5%) of service providers were poorly adherent. None of the providers achieved excellent adherence to optical safety guidelines. The item with the least adherence was the lack of non-reflective floors inside laser rooms in 72.3% of centers. All service providers were familiar with the laser system controls and emergency shutdown (100% adherence). Conclusion There is a significant deficiency in the safety precautions at laser-assisted hair removal centers that can result in devastating ophthalmic injuries. Companies providing laser-assisted hair removal machines should be involved in aiding these centers to implement safety procedures.

To report the outcomes, advantages and disadvantages of a heads-up three-dimensional (3D) visualization system compared to the conventional microscope in pediatric tractional retinal detachment (TRD) surgery secondary to advanced stage retinopathy of prematurity (ROP). Medical records of patients with ROP stage 4 or 5 who underwent surgery for tractional retinal detachment at King Khaled Eye Specialist Hospital between September 2017 and July 2019 were identified and reviewed. Eyes were divided into 2 groups, eyes that underwent surgery with a 3D heads-up platform (3D group) and eyes that underwent surgery with a conventional microscope (conventional group). Data were collected on neonatal history, visual acuity, intraoperative complications and success rates between groups.Eighteen eyes of 14 patients who underwent surgical repair of TRD related to ROP. Postoperative outcomes were compared between 10 eyes (7 patients) in the 3D group and 8 eyes (7 patients) in the conventional group There was no statistically significant difference in success rate between both groups (75% conventional group vs 70% 3D group). Partial or complete reattachment was achieved in 7 eyes in 3D group compared to 6 eyes in conventional group. Lower postmenstrual age at the time of the first surgery and presence of retinal breaks were associated with poorer surgical outcome. Heads up 3D visualization system is feasible in tractional retinal detachment related to ROP with similar success rate and no increased risk of complications when compared to conventional microscope. This system may be advantageous in advanced pediatric tractional retinal detachment surgeries.

Purpose: To identify the pitfalls in retinopathy of prematurity (ROP) screening leading to advanced disease at Ministry of Health (MOH) hospitals in Saudi Arabia. Methods: A qualitative deductive content analysis was used to study the phenomena of defects in ROP screening. A retrospective review of medical records of newborns presenting to two tertiary eye care centers with advanced ROP (Stage 4 and 5) from January 2012 to June 2019 was completed. An extensive review of the original files at the referring hospitals was conducted, including the general condition and findings of ophthalmic examination and the sequence of follow-up until the infant was discharged/referred. Data analysis was completed using pre-structured categorization matrix. Results: Records of 29 infants with advanced stage ROP were identified. Only 13 medical records were available and obtained. The pitfalls in screening found in the study were failure to refer by the neonatologist, delayed follow-up by the ophthalmologist, failure to follow-up by the ophthalmologist, failure to diagnose by the ophthalmologist, poor documentation in patient files, unavailability of ophthalmologist, family negligence, lack of treatment and delayed referral to a higher center, and progression despite timely screening and management.Conclusion: Although clear ROP screening guidelines are available, implementations of these guidelines are suboptimal. This study showed the most common defect in screening is physician’s inadequacy and unavailability. A proper network of competent ROP screening physicians in all neonatal intensive care units should be established. Centers for advanced ROP surgery should be allocated to deliver a timely surgical care if needed.

Budoor Albabtain,1,2,* Marco Mura,3,4 Patrik Schatz,3,5 Sulaiman M Alsulaiman,3 Wael A Alsakran,3 Valmore A Semidey3,* 1Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; 2Department of Ophthalmology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia; 3Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; 4Department of Translational Medicine, University of Ferrara, Ferrara, Italy; 5Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University, Lund, Sweden*These authors contributed equally to this workCorrespondence: Valmore A SemideyVitreoretinal Division, Department of Ophthalmology, King Khaled Eye Specialist Hospital, P.O. Box 7191, Riyadh, 11462, Saudi ArabiaTel +966-11-482-1234 ext.2655Fax +966 11 4821234 ext.3773Email asemidey@hotmail.comPurpose: To compare the specificity of diagnosing posterior vitreous detachment (PVD) using preoperative optical coherence tomography (OCT) versus intraoperative triamcinolone acetonide (TA) staining in patients undergoing vitrectomy.Patients and Methods: This retrospective cohort study included patients undergoing pars plana vitrectomy for diverse retinal pathologies. Intraoperatively, surgeons evaluated the posterior hyaloid status with TA staining and compared it with preoperative OCT findings.Results: One hundred six patients underwent intraoperative assessments of posterior hyaloid status, with 72% (76/106) of the eyes showing positive staining. Sixty-two patients had also undergone preoperative OCT. Of the patients diagnosed with PVD on preoperative OCT, 50% (15/30) showed positive TA staining intraoperatively. The sensitivity of preoperative OCT assessment was 83.3%, and its specificity was 65.9%.Conclusion: Preoperative OCT imaging is associated with lower sensitivity and specificity for diagnosing PVD when compared to intraoperative TA staining.Keywords: optical coherence tomography, posterior hyaloid, posterior vitreous detachment, vitrectomy, vitreoschisis, triamcinolone acetonide

To study the natural history, anatomical and functional outcomes of persistent subretinal fluid (SRF) after pars plana vitrectomy (PPV) for diabetic tractional retinal detachment (TRD) and combined traction-rhegmatogenous retinal detachment (TRRD). Retrospective interventional case series of 43 patients (46 eyes) with persistent SRF following PPV for diabetic TRD or combined TRRD from January 2010 to December 2017 at single tertiary institution. Primary outcomes included best corrected visual acuity (BCVA) and central foveal thickness (CFT). Thirty-one eyes (67.4%) had macula-off TRD, 5 (10.9%) had fovea-threatening TRD and 10 (21.7%) had combined TRRD. The mean (± SD) duration of decreased vision was 48.0 ± 58.2 weeks. The mean follow-up duration was 21 ± 13.2 months. Residual macular SRF was detected by optical coherence tomography in all eyes at 3 months and in 10 eyes (23.8%) at 12 months after surgery. Only 3 eyes (6.5%) had persistent SRF at final follow up. The mean time to resolution was 10.6 ± 4.1 months [range 6.0–23.0]. Thirteen eyes received additional intervention to address SRF. The mean CFT gradually improved until final follow-up (P-value

Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in theTo report a novel homozygous variant in theCase report.We report a case of a 4-month-old male who presented with microcephaly, global developmental delay, truncal hypotonia, and limb reduction defects. Ophthalmic examination revealed bilateral nystagmus and retinal detachment with mild cataractous changes in addition to retrolental plaque in the left eye. Next generation sequencing analysis identified a novel homozygous frameshift likely pathogenic variant (c.1269_1285dup (p.Arg429Glnfs*32)) in theThe discovery of this new likely pathogenic variant enriches the genotypic spectrum of

A 9-year-old boy with the diagnosis of Sturge-Weber Syndrome, and port-wine stain involving the right side of the face, presented with acute visual loss of the right eye. Examination revealed a high intraocular pressure and a combined cilioretinal artery and inferior hemi-retinal vein occlusion in the right eye. Systemic work-up was negative. After controlling the intraocular pressure, gradual improvement of vision was noticed with simultaneous disappearance of signs of vascular occlusion. Keywords: Retinal artery occlusion, Retinal vein occlusion, Sturge-Weber syndrome, Glaucoma

Purpose: To report a blue laser-induced full thickness macular hole (FTMH) with delayed spontaneous closure without surgical intervention. Observations: A 14-year old male developed full thickness macular hole after momentary exposure to a high-power handheld blue laser device. The macular hole closed spontaneously over a long period of observation. Conclusion: Despite an initial enlargement in size, small FTMH caused by blue lasers may close spontaneously over an extended period of observation. Keywords: Blue laser, Full thickness macular hole, Spontaneous closure

Purpose The aim of this study was to describe the clinical manifestations and outcomes of 4 patients who had sustained eye injury during alexandrite laser-assisted hair removal. Methods This was a retrospective case series of 4 patients who presented to 2 tertiary eye care hospitals over 2 years. Data on ophthalmic examination, spectral domain optical coherence tomography (Heidelberg Engineering, Heidelberg, Germany), and fundus fluorescein angiography were collected. Results Four female patients sustained injuries during alexandrite laser hair removal. One patient presented with acute anterior uveitis, 2 patients with subfoveal choroidal neovascularization, and 1 patient with intraretinal foveal hemorrhage. Visual acuity at last follow-up (range 3–6 months) was 20/15 to 20/20. Conclusions Ocular injuries can occur as a result of incorrect use of laser-assisted hair removal devices. Ophthalmologists should be aware of ocular damage caused by these devices.

Purpose To describe the findings and the management of macular hole (MH)–related retinal detachment (RD) in children with Knobloch syndrome. Design Retrospective interventional case series. Participants Patients with Knobloch syndrome who presented with MH-related RD. Methods Retrospective chart review of patients with Knobloch syndrome who presented with MH-related RD from January 2012 to December 2018. Interventions included pars plana vitrectomy and silicone oil tamponade with or without scleral buckle, drainage retinotomy, or relaxing retinectomy. Main outcome measures MH characteristics and surgical anatomical outcome. Results The study included 9 eyes of 5 patients (age range 2 months to 5 years; median age 5.5 months). Presenting symptoms were poor fixation and nystagmus. The fellow eye of 1 patient had RD due to peripheral breaks. The MH was clinically visible in 8 eyes and detected only by OCT in 1 eye. The RD was shallow and extended to the anterior equator in 7 eyes and localized to a punched-out atrophic lesion in 1 eye. Seven eyes underwent surgical repair. At the last follow-up examination (follow-up range 11 to 42 months; mean 24 months, standard deviation 11.8 months), retinal reattachment with MH closure was achieved in 5 eyes along with marked improvement in fixation. Conclusion Patients with Knobloch syndrome may develop MH-related RD as early as infancy. The condition may be easily overlooked in children but should be suspected in the setting of high myopia, vitreoretinal degeneration, and encephalocele.

Purpose: To describe a new form of childhood-onset rhegmatogenous retinal detachment (RRD) in autosomal recessive high myopia associated with mutations in LRPAP1. Design: Retrospective cohort study. Participants: A total of 12 children (24 eyes) with recessive LRPAP1 mutations and associated high myopia. Methods: Serial ophthalmological examination and retinal imaging during 4.6±1.9 (mean ± standard deviation) years. Retinal interventions included prophylactic laser and surgical retinal repair. Main Outcome Measures: Incidence and recurrence rate of RRD and retinal break formation. Association between LRPAP1 genotypes and RRD characteristics. Results: Some 42% of children (5 children [6 eyes]) developed RRD at the age of 10.43±0.97 years. Four of the children who developed RRD were male (80%), and 1 was female (20%). Visual acuity was significantly reduced in eyes with RRD at presentation and at the most recent visit compared with eyes with no RRD (P < 0.001 for both). Two eyes had inoperable RRD. Four eyes for which primary retinal repair was done had redetachment (100% of operated eyes) due to variable degrees of proliferative vitreoretinopathy (PVR). Reattachment after surgical repair, which was maintained at least during 6 months of follow-up, was achieved in 3 eyes (75%), with final visual acuities of 20/300 in 2 eyes and 20/400 in 1 eye. Conclusions: This is the first description of a nonsyndromic, high myopia-related, recessive RRD without any signs of vitreoretinal degeneration. Recessive LRPAP1 gene mutations confer a high risk of childhood-onset RRD and PVR. Proliferative vitreoretinopathy in turn increases the risk of recurrent RRD and may lead to blindness. Recognizing the LRPAP1-related high myopia phenotype is important, and early childhood examination with additional close follow-up and prophylactic retinal laser should be considered. (Less)

Purpose: There has been a recent increase in accidental retinal injuries due to the careless use of handheld laser devices. The scenarios under which these incidents occur suggest a lack of awareness of the sight-threatening hazards of some handheld lasers. This study aimed to assess knowledge of the population to plan awareness programs and establish protective health policies. Methods: This observational cross-sectional study used a newly-developed, validated, and pilot-tested questionnaire to survey attendees of football matches in Saudi Arabia between September to October 2018. Results: Five-hundred and sixty-nine attendees were surveyed, and 76% of respondents knew laser pointers were harmful and could damage the eye. However, 73% of respondents did not think that the blue laser was dangerous, indicating poor awareness regarding this particular laser. Only 38% knew which ocular structure is most commonly damaged, and 15.6% did not realize that brief exposure can cause vision loss. Females had better knowledge compared to males. Respondents between 25 and 40 years old, females, and married individuals had the highest levels of a positive attitude. There was no statistically significant difference in the mean knowledge score between those in the medical field and other fields (P = 0.5). Conclusion: There is an inadequate knowledge of protective measures against handheld lasers. However, there's an overall positive attitude towards spreading awareness about this issue. Yet, targeted awareness campaigns are still needed in addition to more strict government laws to prevent importing or using high-powered handheld laser pointers.

Ocular involvement in pemphigus vulgaris (PV) is relatively rare. The conjunctiva and eyelids are considered the most common affected sites in ocular pemphigus. Scleritis is rarely reported as a manifestation of PV. We present a case report of anterior scleritis as a manifestation of PV and its response to rituximab therapy.

Purpose: To report a case of severe anterior segment inflammation secondary to exposure to a high-power blue laser device.Methods: Case report.Results: A 14-year-old male presented with redness, pain and decreased vision in his left eye after exposure to blue laser. Examination indicated severe conjunctival injection associated with 4+ cells in the anterior chamber with fibrinous reaction. The posterior pole was normal.Conclusion: Blue laser devices are easily available through the Internet. These devices can cause devastating ocular injuries. National safety guidelines are required to regulate use.

BACKGROUND AND OBJECTIVE: Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT). PATIENTS AND METHODS: The authors report patients with Knobloch syndrome who received OCT testing during their care from 2011 to 2016. Diagnosis was based on high myopia, characteristic fundus, and occipital scalp or skull abnormalities with/without featureless irides and/or ectopia lentis. When available, diagnosis was confirmed by the detection of COL18A1 mutations. RESULTS: The authors studied eight eyes from five patients. Two eyes were excluded due to chronic retinal detachment. OCT findings included epiretinal membrane, peripapillary vitreoretinal traction with retinoschisis, absent or rudimentary foveal pits, mean macular thickness of 113.4 μm, poor lamination, retinal pigment epithelium (RPE) atrophy, photoreceptor depletion, and mean choroidal thickness of 168.5 μm with enlarged choroidal vessels. CONCLUSION: OCT findings in Knobloch syndrome include abnormal vitreoretinal traction, poor foveal differentiation, poor retinal lamination, retinal thinning, RPE attenuation, myopic choroidal thinning, and pachychoroid. [ Ophthalmic Surg Lasers Imaging Retina . 2019;50:e203–e210.]

Purpose To study the outcomes of management of rhegmatogenous retinal detachment in eyes with chorioretinal colobomas. Methods A retrospective review of 119 patients (119 eyes) with chorioretinal colobomas who underwent surgical repair for rhegmatogenous retinal detachment was performed. Data were collected on the site of the retinal break, type of surgery, anatomical success, and complications. Results The most common location of the primary retinal break was the intercalary membrane in 58.8% of eyes. The most common surgical intervention was vitrectomy with endolaser and silicone oil tamponade (77.3% of eyes). Final anatomical success was achieved in 87.4% of eyes. Anatomical success was significantly higher in eyes that received long-acting tamponade (P = 0.006). Cryotherapy was significantly associated with failure of primary vitrectomy (P = 0.028). Placement of an encircling band did not affect anatomical outcomes (P = 0.75). Most of the eyes (60%) with recurrent retinal detachment after primary vitrectomy had a primary break within the normal retina. Conclusion The optimal option for managing retinal detachment in eyes with chorioretinal colobomas is pars plana vitrectomy with long-acting tamponade (silicone oil or octafluoropropane) and retinopexy to the edge of the coloboma and the primary breaks. Cryotherapy is associated with poor anatomical outcomes. An encircling band does not seem to affect the final anatomical outcome.

Purpose.To determine the functional and anatomic outcomes of rhegmatogenous retinal detachment (RRD) surgery in patients with Down syndrome.Methods.A retrospective chart review was performed of patients with Down syndrome who had undergone surgery for RRD at King Khalid Eye Specialist Hospital between 1995 and 2014.Results.A total of 245 patients with Down syndrome were evaluated during the study period. Eighteen eyes of 15 patients (6.1%) with RRD were identified. Three out of 15 patients (20%) presented with bilateral retinal detachment. All eyes presented with macula off retinal detachment. The retina was successfully reattached in 16/18 (88.8%) eyes after a mean follow-up of 48 months. The final postoperative visual acuity ranged from light perception to 20/125 (median: hand motion) (11/18 eyes).Conclusions.The anatomic success rate of retinal reattachment surgery in patients with Down syndrome is comparable to the general population. Patients with Down syndrome should undergo regular ophthalmic examinations for early diagnosis. Despite late diagnosis and the presence of proliferative vitreoretinopathy (PVR) in some patients, favorable anatomical outcomes can be achieved.

To compare the functional and anatomic outcomes of pars plana vitrectomy (PPV) with juxtapapillary laser photocoagulation (JLP) versus vitrectomy without JLP in optic disc pit maculopathy.This was a multicentre, retrospective study of 46 consecutive patients with optic disc pit maculopathy presenting at tertiary eye centres between 1992 and 2012. Indications for surgery included distorted or decreased vision. Surgical intervention included PPV, posterior vitreous detachment, with or without gas tamponade. Twenty-four patients received laser photocoagulation at the temporal edge of the optic disc pit (group A) and 22 patients had no laser (group B). Postoperative best-corrected visual acuity (BCVA) and optical coherence tomography findings were the main outcome measures.Mean follow-up was 44 months (range 12-98 months). BCVA in group A improved significantly from 0.7 logMAR (20/100) preoperatively to 0.5 logMAR (20/60) postoperatively (p=0.017). In group B, BCVA improved from 0.7 logMAR (20/100) preoperatively to 0.4 logMAR (20/40) postoperatively (p=0.014). The difference in final BCVA between groups was not statistically significant (p=0.693). The mean central macular thickness (CMT) in group A improved significantly from 750 μm preoperatively to 309 μm at last follow-up (p0.0001). The mean CMT in group B improved from 616 μm preoperatively to 291 μm at last follow-up (p=0.028). The difference in final CMT between groups was not statistically significant (p=0.747).PPV with JLP for optic disc pit maculopathy had similar functional and anatomic outcomes compared with vitrectomy without JLP.

Purpose To report the natural history and management outcomes of full-thickness macular hole (MH) caused by momentary exposure to a high-power handheld blue laser device and highlight the dangers of such easily available devices. Design Retrospective consecutive case series. Methods A chart review of all patients presenting with full-thickness MH from exposure to blue-light high-powered lasers from January 2012 to May 2014 at 2 institutions was performed. Evaluation included a full ophthalmic examination, fundus photography, macular spectral-domain optical coherence tomography, and fundus fluorescein angiography. The main and secondary outcomes were MH closure and final visual acuity, respectively. Results There were 17 eyes of 17 patients with full-thickness MH. Best-corrected Snellen visual acuity (BCVA) at presentation ranged from 20/30 to 2/200 (mean: 20/210). The MH minimum diameter ranged from 168 μm to 620 μm (mean: 351 μm). Fourteen eyes underwent pars plana vitrectomy, internal limiting membrane peeling, and gas or silicone oil tamponade. Eleven of the 14 (78.6%) operated eyes had complete closure of the macular hole. Of the 3 unoperated eyes, only 1 eye with the smallest macular hole (minimum diameter: 168 μm) closed spontaneously with observation. Final BCVA in all cases had a mean of 20/62 (range: 20/20–4/200). Conclusion Full-thickness MH can result from momentary exposure to high-power handheld laser devices. While spontaneous closure may occur in rare cases, most cases require early surgical intervention. Vitrectomy may be successful in closing the macular hole with visual acuity improvement in most of the cases.

A 10-month-old infant with the diagnosis of retinal cavernous hemangioma involving the macula presented with an outward deviation of the right eye that has been noticed by her parents. Examination revealed a clearing vitreous hemorrhage, and grape-like clusters filled with blood in the posterior pole. After 4 cycles of intravenous infliximab over the period of 3 months, no evident change was noted on the size of the cavernous hemangioma.

To report various types of maculopathy caused by momentary exposure to a high-power handheld blue laser.Consecutive case series.Fourteen eyes of 14 patients.Patients with a history of eye exposure to a blue laser device (450 nm and a power range of 150-1200 mW) to a single institution were included. Evaluation included a full ophthalmic examination, fundus photography, macular spectral-domain optical coherence tomography, and fundus fluorescein angiography.Analysis of the types of maculopathy and vitreoretinal pathologic features.All patients were young males. The most common setting for injury was accidental at play. The types of maculopathies encountered were: a full-thickness macular hole (FTMH) in 4 eyes, a premacular subhyaloid hemorrhage in 5 eyes, premacular sub-internal limiting membrane hemorrhage in 2 eyes, an outer retinal disruption at the fovea in 1 eye, an epimacular membrane in 1 eye, and a schisis-like cavity in 1 eye. Best-corrected Snellen visual acuity at presentation ranged from 20/40 to 4/200 (mean, 20/290). Only 4 eyes (29%) improved spontaneously with increase in vision, whereas 10 eyes (71%) required intervention. The latter consisted of neodymium:yttrium-aluminum-garnet hyaloidotomy in the 5 eyes with subhyaloid hemorrhage and pars plana vitrectomy (PPV) for the eyes with FTMH and epimacular membrane. All 4 FTMH were closed successfully after PPV. Final mean best-corrected visual acuity in all cases was 20/35 (range, 20/15-20/300).Exposure to high-power handheld laser devices can cause a variety of maculopathies that can reduce central vision permanently. Although vision may improve spontaneously, most cases require intervention. Unrestricted access to commercially available high-power handheld laser devices is dangerous and public awareness should be encouraged.

Purpose: To report the incidence of endophthalmitis, the clinical and microbiological aspects, after intravitreal (IVT) injection of anti-vascular endothelial growth factor. Methods: A chart review was performed of patients diagnosed with endophthalmitis after receiving IVT injections of bevacizumab (Avastin) and ranibizumab (Lucentis) presenting to King Khaled Eye Specialist Hospital (KKESH) from May 2006 to December 2012. Endophthalmitis was diagnosed clinically as an intraocular infection with vitreous involvement that required treatment with IVT antibiotics or had undergone pars plana vitrectomy (PPV) to remove the suspected microorganism. Main outcome measures were the incidence of endophthalmitis and the clinical and microbiological features. Results: Seven cases of endophthalmitis were identified, there was 1 (0.004%) case of endophthalmitis of 22674 IVT injections performed at KKESH. All cases were after IVT bevacizumab. Three (42.85%) cases were culture-positive and caused by Staphylococcus epidermidis. The initial management was vitreous tap and IVT injection of antibiotics followed by PPV in 6 (85.7%) cases. One (14.3%) case underwent evisceration. Visual acuity improved at last visit in only 2 (28.6%) cases. The rate of endophthalmitis was 0.0004% for bevacizumab. Conclusions: The rate of endophthalmitis after IVT bevacizumab and ranibizumab was very low. We recommend following a standardized injection protocol, adherence to sterile techniques, and proper patient follow-up are determinant factors for low incidence rates. In addition, endophthalmitis after IVT bevacizumab and ranibizumab have poor visual outcomes despite prompt treatment.