LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

PURPOSE: To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy. METHODS: Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings. RESULTS: 10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%). CONCLUSION: LEPREL1 -related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.

Evolution of macular hole in enhanced S-cone syndrome.

PURPOSE: 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). METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Late presentation of RPE65 retinopathy in three siblings.

PURPOSE: Gene therapy for RPE65 retinopathy has been recently approved. The purpose of this study was to assess retinal structure and function in 3 siblings presenting with late-stage RPE65 retinopathy and to assess the unmet need for such therapy in Saudi Arabia. METHODS: Search of the retinal dystrophy registry at King Khaled Eye Specialist Hospital and clinical examination including multimodal retinal imaging, full-field electroretinography (ERG), dark adapted full-field stimulus sensitivity thresholds, and molecular genetic testing in 3 patients. RESULTS: Nine (9) patients were identified with biallelic RPE65 mutations, corresponding to a prevalence rate of 9/187 = 5% among early onset retinal dystrophies. Of these, 3 siblings (2 male and 1 female) with RPE65 retinopathy were assessed in detail, because of an unusual, late presentation. They were all over 30 years old at the time of their most recent visits and had non-recordable ERGs. The 2 male siblings presented with poor vision and paracentral loss of the inner segment ellipsoid (ISe) and focal attenuation of the outer nuclear layer (ONL) in the macula. On the other hand, the female sibling presented with 20/100 vision with preserved foveal ISe and intact ONL throughout the macula and significantly lower light sensitivity thresholds compared to her male siblings. A homozygous missense p.Arg91Trp mutation in RPE65 was identified in all. All patients were eligible for gene therapy, demonstrating a central retinal thickness of more than 100 microns on repeated examinations. CONCLUSIONS: RPE65 retinopathy seems to be relatively common on the Arabian peninsula, and in addition it may be underdiagnosed. To the best of our knowledge, this is the first detailed presentation, including multimodal retinal imaging and electrophysiological assessment, of such patients from this region. Patients with late presentation of RPE65 retinopathy may be eligible for gene therapy, in terms of remaining retinal function and structural preservation. The therapeutic window of such therapy remains to be determined.

Proliferative retinopathy as a feature of Vogt Koyanagi Harada Disease: a report of two cases.

BACKGROUND: Proliferative retinopathy is an uncommon feature of Vogt Koyanagi Harada (VKH) disease which might indicate poor uveitis control in these patients. We aim to describe the clinical features and outcome of management of proliferative retinopathy in 2 patients with VKH. CASE PRESENTATION: 19 and 33 years old females with VKH presented with unilateral proliferative retinopathy. Both patients had neovascularization of the optic disc (NVDs) and one patient had neovascularizations elsewhere (NVEs) and preretinal hemorrhage. Both patients had exudative retinal detachments (ERD). Systemic steroids and immunomodulatory agents were successfully used to control inflammation and achieve regression. One patient developed fibrous tissue formation at the disc area as well as an epiretinal membrane formation, for which she had pars plana vitrectomy with membrane peeling. Both patients had controlled inflammation with stable vision. CONCLUSIONS: Proliferative retinopathy can present variably in VKH patients and indicates persistent inflammation which is incompletely controlled. Proper uveitis control is sufficient to achieve regression of retinal neovascularization.

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

Anterior segment migration of intravitreal dexamethasone implant in a patient with scleral fixation intraocular lens implant: a case report.

Corticosteroids are crucial for treating inflammatory ocular conditions. The development of dexamethasone revolutionized targeted ocular therapy. Ozurdex, a dexamethasone implant, effectively treats various eye conditions but carries risks such as implant migration. This is a case of anterior segment migration of intravitreal dexamethasone implant, Ozurdex, in a patient with scleral fixation intraocular lens implant in whom conservative management with supine positioning and pharmacologic pupil dilation can help retain the implant back in the vitreous. Patients at high risk of Ozurdex migration should avoid its use. Educate patients on the risk of implant migration and signs of migration to present immediately to an ophthalmology emergency department to avoid corneal damage. It is essential to identify high-risk patients before considering Ozurdex migration. In some cases, conservative management can be initiated while preparing for surgical removal.

FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.

BACKGROUND/PURPOSE: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype. METHODS: Retrospective case report. RESULTS: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of right-sided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C>A and c.1349A>G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy. CONCLUSION: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV.

Central Retinal Artery Occlusion in a Young Patient With a Hidden Unusual Sickle Cell Trait.

Sickle cell trait is considered a benign condition. Ophthalmic manifestations are infrequent but can result in significant visual deterioration. We present a case of a 33-year-old male, not known to have any medical illnesses, who presented to the ophthalmological emergency room complaining of a sudden onset of painless and profound left eye vision loss for 12 hours. The patient denied any medication use, past eye trauma, or surgery. On detailed ophthalmologic examination, the best-corrected visual acuity (BCVA) was 20/20 in the right eye and hand movement in the left eye. Dilated fundus examination of the left eye showed a central retinal artery occlusion (CRAO) with pale, white retinal swelling and a macular cherry-red spot. Fundus fluorescein angiography showed delayed arterial filling with persistently reduced macular perfusion. CRAO was diagnosed in an otherwise healthy young male. Systemic workup was negative except for protein electrophoresis, which showed sickle cell trait, and HbA1C was 7.8%. Later, atrophic macular changes with a pale optic disc were observed, and BCVA was reduced to light perception. CRAO in young patients amounts to diverse causes, which require extensive systemic workup. In addition, the concurrence of the sickle cell trait with diabetes mellitus might have a role in CRAO development.

Cone dystrophy associated with autoimmune polyglandular syndrome type 1.

To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families.

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.

Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.

Retinal periphlebitis associated with branch retinal vein occlusion and complicated by subfoveal hemorrhage: a case report.

Retinal periphlebitis is a subtype of retinal vasculitis affecting the retinal veins. We report a case of bilateral branch retinal vein occlusion (BRVO) associated with idiopathic retinal periphlebitis and complicated by subfoveal hemorrhage (SFH). An 18-year-old woman presented with best-corrected visual acuity of 20/20 in the right eye and 20/30 in the left eye. Examination revealed bilateral retinal vascular sheathing predominantly involving the retinal veins and bilateral BRVO. Fundus fluorescein angiography revealed localized vascular leakage in the right eye and diffuse vascular leakage in the left eye. Spectral-domain optical coherence tomography showed mild nasal thickening with subfoveal fluid in the left eye. Oral steroids were started on a tapering dosage as well as oral methotrexate. A year later, she presented with regressed vascular sheathing in both eyes with 5/200 vision and SFH in the left eye. Pars plana vitrectomy, subretinal tissue plasminogen activator, intravitreal ranibizumab, laser photocoagulation, and gas injection were performed. The SFH resolved and the visual acuity improved to 20/100. Good vision was preserved in both eyes with no active inflammation. Timely management of SFH in idiopathic retinal periphlebitis can achieve a favorable visual outcome.

Uveitic Granulomas Masquerading as Ocular Tumors.

Introduction: Solitary uveal lesions confer a diagnostic challenge to ophthalmologists. Uveitic lesions most abundantly appear amelanotic and commonly involve the choroid. Most amelanotic choroidal lesions are either neoplastic or inflammatory in origin. In our study, we aimed to describe six uveitic granuloma cases, which were referred to a tertiary ophthalmology center as intraocular tumors. Methods: Retrospective chart review of 6 patients (7 eyes) who had uveitic granulomas and were referred to a tertiary ophthalmology center as having intraocular tumors. Results: Mean age on presentation was 47 ± 12.5 years. One lesion was involving the ciliary body only, five lesions had pure choroidal involvement, and one had ciliochoroidal involvement. Mean visual acuity on presentation was 1.7 ± 0.75 (Snellen = 20/1,000) and ranged from 20/80 to light perception. Mean basal diameter of all lesions was 7.7 ± 1.8 mm. Three lesions had moderate echogenicity, two lesions were low to moderate echoic, and one lesion had moderate to high echogenicity on ultrasonography. Three lesions were associated with retinal detachments. Five eyes showed an early hypofluorescence with late hyperfluorescence. Leakage of fluorescein at borders was noticed in 3 lesions. Final diagnosis was presumed intraocular tuberculosis in 4 patients, probable ocular sarcoidosis in 1 patient, and idiopathic solitary uveitic granulomas in 1 patient. Upon treatment, the vision improved to 0.3 ± 0.27 (Snellen = 20/40) and ranged from 20/20 to 20/100 after 4.7 ± 2.9 years of follow-up. Conclusions: Uveitic granulomas can demonstrate features of ocular tumors. Proper uveitis management leads to a favorable visual outcome and ocular preservation.

Hydrogel (Miragel®) scleral explant, late orbital complication.

INTRODUCTION: The hydrogel Scleral Buckle is a soft and pliable subtype of buckles which has been used to repair retinal breaks and detachments externally. This case represents an unusual late orbital complication of the implant. CASE REPORT: A 70 years old male patient presented with drooping right upper lid and eye misalignment, associated with foreign body sensation and discomfort. The patient underwent scleral buckle surgery for a rhegmatogenous retinal detachment 32 years before his presentation using a hydrogel MIRAgel® explant. Orbital imaging showed a large cystic lesion in the superolateral quadrant of the orbit indicating a fluid-filled explant. DISCUSSION: In patients who were treated with hydrogel MIRAgel® explant for retinal breaks or detachments, detailed ophthalmic history, particular past eye surgery history, and examination, orbital imaging, and good clinical documentation. Serious orbital and neurological conditions need to be ruled out carefully. CONCLUSION: Late orbital complications of hydrogel MIRAgel® explant might develop late after surgery and might represent a diagnostic challenge for ophthalmologists.

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.

The manifestation of intermediate uveitis (IU) in patients with retinitis pigmentosa (RP) is uncommon and poses diagnostic and management challenges. In this case, we describe the clinical features and management outcomes in an RP patient with a novel homozygous splice site mutation in PRPF8. A 21-year-old male presented with unilateral decrease of vision in the right eye for 1 week. Retinal dystrophy features were present in the left eye. After 2 weeks of topical steroid therapy, near-total resolution of IU was achieved and vision improved to 20/30. Signs of (RP) were present bilaterally, with the right eye more affected than the left. Genetic testing indicated a novel homozygous c. 3061-6_3061-3del mutation in the PRPF8 gene. IU in young patients with RP can be effectively treated with a short course of topical steroids, sparing the need for systemic immunosuppressives. After the improvement in IU, the right eye showed more advanced RP changes.

Epidemiological Characteristics and Outcome of Open Globe Injuries in Tabuk City, Kingdom of Saudi Arabia: Retrospective Cohort Study.

INTRODUCTION: The objective of this study was to assess the epidemiological characteristics, clinical features and visual outcomes of open globe eye injury (OGI) in Tabuk, Saudi Arabia. METHODS: A retrospective chart review of OGI patients who had undergone operative repair of their injuries in Tabuk, Saudi Arabia. The collected data included patients' demographics, duration between trauma and presentation and the mechanism of trauma, wound location, extent of injury, presence of intraocular foreign body, and initial and final visual acuity data. RESULTS: Sixty-three eyes of 63 patients who were admitted for traumatic globe rupture were included; 84.1% were males and 39.7% were of pediatric age. Delay in seeking medical care for > 24 h was recorded in 4.8% of patients. The most common (42.9%) mechanism was blunt trauma followed by sharp trauma (38.1%) and projectile trauma (9.5%); 55.6% had the injury in zone 1. Intraocular foreign body was reported in 9.5% of patients. Intraocular foreign bodies were significantly more common in adults (p = 0.018) compared to children. Poor visual acuity was noted in 77.8% of patients upon presentation and 60.3% on last visit. CONCLUSION: The incidence of OGI was more common in males. The most common cause of OGI was blunt injury, and half of the injuries were in zone 1. Visual outcomes are guarded for most patients with OGIs.

Retinopathy of Prematurity as Multidisciplinary Approach, a Pediatricians Standpoint, and Practice.

PURPOSE: This study aims to measure the knowledge levels toward retinopathy of prematurity (ROP) among pediatricians covering neonatal intensive care units (NICUs) in the major hospitals in Tabuk, Saudi Arabia. To our knowledge, this is the first report to assess the awareness level of ROP in the NICU pediatricians in the region. PATIENTS AND METHODS: This is a quantitative, non-experimental, cross-sectional, descriptive study using self-administered electronic questionnaires to assess the knowledge level among NICU pediatricians at the main hospitals of Tabuk city. We used a self-administer online validated knowledge, attitude, and practice (KAP) questionnaire. A scoring system was implemented in the data analysis, depending on the correct chosen answers on the KAP questionnaire, to present the ROP knowledge level in the participants. RESULTS: The study included 41 NICU pediatricians. Most of the participants' age exceeded 40 years (51.2%). The majority were recruited from either King Salman Military hospital (34.1%) or King Khalid hospital (31.7%). The average frequency of preterm infants seen per month exceeded 15 infants among 41.4% of the respondents. Most pediatricians recognized the important treatment modalities available for ROP (92.7%); however, only 24.4% of them could recognize that 32 weeks or less is the gestational age of the screening criteria for ROP. The overall knowledge score ranged between 4 and 10, out of a possible maximum of 12 with a mean ± SD of (6.68±1.47). The majority (75.6%) believe that the ROP treatment can successfully prevent blindness. CONCLUSION: Our study demonstrated that the NICU pediatricians have good knowledge about the treatment modalities of ROP. However, their knowledge about the inclusion criteria of ROP screening was insufficient. Thus, we highlighted the necessity of raising the awareness level and the strict application of the clinical guidelines among NICU pediatricians and healthcare workers involved in managing ROP.

Diabetic Retinopathy and Eye Screening: Diabetic Patients Standpoint, Their Practice, and Barriers; A Cross-Sectional Study.

Diabetes mellites (DM) is one of the most common systemic disorders in Saudi Arabia and worldwide. Diabetic retinopathy (DR) is a potentially blinding ophthalmic consequence of uncontrolled DM. The early detection of DR leads to an earlier intervention, which might be sight-saving. Our aim in this cross-sectional study is to assess patients' knowledge and practices regarding DR, and to detect the barriers for eye screening and receiving a check-up from an ophthalmologist. The study included 386 diabetic patients. One hundred and thirty-one patients (33.9%) had T1DM and 188 (48.7%) had T2DM. Most of the diabetic patients (73.3%) know that they must have an eye check-up regardless of their blood sugar level. DM was agreed to affect the retina in 80.3% of the patients, 56% of patients agree that DM complications are always symptomatic, and 84.5% know that DM could affect their eyes. The fact that blindness is a complication of diabetic retinopathy was known by 65% of the diabetic patients. A better knowledge was detected among patients older than 50 years of age (54.9%) compared to those aged less than 35 years (40.9%), which was statistically significant (p = 0.030). Additionally, 61.2% of diabetic patients who were university graduates had a significantly better knowledge in comparison to 33.3% of illiterate patients (p = 0.006). Considering the barriers to not getting one's eyes screened earlier, a lack of knowledge was reported by 38.3% of the patients, followed by lack of access to eye care (24.4%). In conclusion, there is a remarkable increase in the awareness of DR among the Saudi population. This awareness might lead to an earlier detection and management of DR.

Long term keratits treatment with topical cyclosporin a in autoimmune polyglandular syndrome type 1.

PURPOSE: To report long term results of two cases treated with topical cyclosporin A 1% for keratitis associated with autoimmune polyglandular syndrome (APS1). OBSERVATIONS: A 25-year-old male and a 17-year-old female were referred from endocrinology as APS1-related autoimmune keratitis. Extended-duration treatment with topical cyclosporin A (CsA) 1% was used for 24 and 18 months, respectively. The first patient had improved best-corrected visual acuity (BCVA) from 20/200 and 20/300 in right and left eye to 20/60 in both eyes with markedly improved corneal opacification, while the second patient had improved BCVA from 20/400 and 20/300 in right and left eye to 20/160 in both eyes with persistent central stromal scarring in the right eye and discrete areas of stromal scarring in the left eye. CONCLUSIONS AND IMPORTANCE: Long-term topical CsA 1% offers a valuable option for treatment of APS1-related autoimmune keratitis.

Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.

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 presented with sudden onset of pain and decreased vision in the right eye. On examination, she had intraocular pressure (IOP) of 50 mmHg, aggressive iris neovascularization (NVI) and 3-piece IOL. Fundus examination revealed pale disc with tessellated fundus and parapapillary atrophy. Vascular arcades were vertically stretched with avascular ischemic retina starting from the near periphery. Macula appeared thin and atrophic. An intravitreal injection of 0.05 mg/0.1 ml bevacizumab was given to the right eye followed by Ahmed glaucoma valve (AGV) implantation. Assessment of her brother revealed similar posterior segment changes. A subsequent urine analysis showed proteinuria and high albumin to creatinine ratio. Next-generation sequencing for LAMB2 gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.Conclusion: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. Close monitoring after intraocular surgery is recommended to look for the development of NVG.

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. The inheritance is often recessive and as such, CSNB may be more common among populations with a high degree of consanguinity. Here, we present a topic update and a review of the clinical and molecular genetic spectrum of CSNB in Saudi Arabia. Since a major review article on CSNB in 2015, which described 17 genes underlying CSNB, an additional four genes have been incriminated in autosomal recessive CSNB: RIMS2, GNB3, GUCY2D and ABCA4. These have been associated with syndromic cone-rod synaptic disease, ON bipolar cell dysfunction with reduced cone sensitivity, CSNB with dysfunction of the phototransduction (Riggs type) and CSNB with cone-rod dystrophy, respectively. In Saudi Arabia, a total of 24 patients with CSNB were identified, using a combination of literature search and retrospective study of previously unpublished cases. Recessive mutations in TRPM1 and CABP4 accounted for the majority of cases (5 and 13 for each gene, respectively). These genes were associated with complete (cCSNB) and incomplete (icCSNB), respectively, and were associated with high myopia in the former and hyperopia in the latter. Four novel mutations were identified. For the first time, we describe the fundus albipunctatus in two patients from Saudi Arabia, caused by recessive mutation in RDH5 and RPE65, where the former in addition featured findings compatible with cone dystrophy. No cases were identified with any dominantly inherited CSNB.