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The retinal features of Bardet–Biedl syndrome (BBS) are insufficiently characterized in Arab populations. This retrospective study investigated the retinal features and genotypes of BBS in Saudi patients managed at a single tertiary eye care center. Data analysis of the identified 46 individuals from 31 families included visual acuity (VA), systemic manifestations, multimodal retinal imaging, electroretinography (ERG), family pedigrees, and genotypes. Patients were classified to have cone–rod, rod–cone, or generalized photoreceptor dystrophy based on the pattern of macular involvement on the retinal imaging. Results showed that nyctalopia and subnormal VA were the most common symptoms with 76% having VA ≤ 20/200 at the last visit (age: 5–35). Systemic features included obesity 91%, polydactyly 56.5%, and severe cognitive impairment 33%. The predominant retinal phenotype was cone–rod dystrophy 75%, 10% had rod–cone dystrophy and 15% had generalized photoreceptor dystrophy. ERGs were undetectable in 95% of patients. Among the 31 probands, 61% had biallelic variants in BBSome complex genes, 32% in chaperonin complex genes, and 6% had biallelic variants in ARL6; including six previously unreported variants. Interfamilial and intrafamilial variabilities were noted, without a clear genotype–phenotype correlation. Most BBS patients had advanced retinopathy and were legally blind by early adulthood, indicating a narrow therapeutic window for rescue strategies. [ABSTRACT FROM AUTHOR]

Supplemental Digital Content is Available in the Text. A 24-year-old woman presented with hearing loss, neck pain, combined exudative and traction retinal detachment in one eye, and peripheral retinal nonperfusion in the fellow eye evoking familial exudative vitreoretinopathy. Genetic analysis unveiled variants in COL9A1, a gene associated with Stickler syndrome IV. Stickler syndrome IV can present familial exudative vitreoretinopathy–like features. 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. [ABSTRACT FROM AUTHOR]

Background: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic lesions, early cataract, progressive visual loss and hyperornithinemia. Only three cases of GA associated with rhegmatogenous retinal detachments (RRD) have been reported. The genotype-phenotype correlation of RRD in GA is limited by lack of genetic information in the previously reported cases. Here we report two young sisters with a characteristic GA phenotype associated with a novel variant in the ornithine aminotransferase gene (OAT), in whom one developed unilateral RRD at the age of 9 years. Materials and Methods: Retrospective report of two cases including genetic analysis and multimodal retinal imaging. Results: A 9-year-old Saudi girl presented with a funnel-shaped RRD, extensive proliferative vitreoretinopathy, peripheral choroidal detachment and neovascular glaucoma in her right eye. Fundus examination of her left eye showed an attached retina with sharply-demarcated peripheral chorioretinal atrophic patches suggestive of GA. Whole exome sequencing confirmed GA by revealing a homozygous c.980 C > G (p. Pro327Arg) variant in exon 8 of OAT. The RRD was inoperable. The chorioretinal lesions in the left eye enlarged slowly over 3 years of follow up. Examination of the proband's older sister revealed a similar but more advanced GA phenotype in both eyes. Conclusions: A characteristic GA phenotype associated with a novel variant in OAT is reported. This variant might be associated with childhood-onset RRD in the proband. [ABSTRACT FROM AUTHOR]

Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP). Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification of patients included searching a retinal dystrophy registry of 798 patients. Results: Ten eyes of six patients with arRP (4 males, 2 females, mean age 33 years) demonstrated Coats-like features, namely inferotemporal peripheral retinal telangiectasis combined with unilateral inferotemporal vasoproliferative tumor (VPT) in 4 eyes. Exudative retinal detachment (ERD) developed in five eyes of which four had VPT. Ablation of the vasculopathy using retinal laser photocoagulation and/or cryotherapy in eight eyes, allowed ERD and/or lipid exudation to decrease in seven eyes despite incomplete vasculopathy regression. Additional intravitreal triamcinolone acetonide injection in one eye failed to regress the ERD and associated VPT. Observation in one eye caused increased exudation. Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1. Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery. In addition to their classic association with CRB1 mutations, other genes are implicated. To the best of our knowledge, this is the first report describing CNGB1 mutations in Coats-like RP. Awareness of the vasculopathy spectrum is important, and timely ablation of the vasculopathy with long-term monitoring is recommended to prevent additional visual loss in RP patients. [ABSTRACT FROM AUTHOR]

Purpose: To describe a specific cone–rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. Methods: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included nextgeneration sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis. Results: Three affected male siblings (26, 16, and 8 years old) were diagnosed with cone–rod dystrophy, featuring bilateral macular hypoautofluorescent lesions. In addition, the eldest brother was found to have retinal vascular leakage throughout the retina without telangiectasia. Uveitis laboratory workup was unremarkable. The homozygous c.1429G>A; p.Gly477Arg mutation in CRB1 was found to segregate with disease in this family. Conclusion: To the best of our knowledge, diffuse vascular leakage without telangiectasia or exudation, with bull’s eye maculopathy, has not been reported previously in CRB1cone rod dystrophy. This expands the phenotype complexity associated with CRB1 mutations and confirms that dystrophies associated with mutations in this gene may appear with features of uveitis. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The presence of retinal capillary hemangioblastoma and cerebellar hemangioblastoma in the context of Von Hippel-Lindau syndrome (VHL) is not characteristically associated with other ophthalmologic conditions. Here, we report the case of a 22-yearold female with a history of bilateral primary congenital glaucoma who presented with a right juxtapapillary retinal capillary hemangioblastoma and an old hemiretinal vein occlusion in which the retinal capillary hemangioblastoma was likely the contributing factor. Her systemic work up was positive for VHL syndrome and revealed the presence of a fatal large brainstem hemangioblastoma. To our knowledge, the association of VHL and congenital glaucoma and/or retinal venous occlusion has not been reported. [ABSTRACT FROM AUTHOR]

Purpose: To report novel retinal findings in Kearns--Sayre syndrome and correlate degree of retinopathy with other clinical findings. Methods: Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation. Results: The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally. Muscle biopsy in two of the cases revealed mitochondrial myopathy. All three had abnormal findings on neuroimaging and modestly reduced visual acuity in both eyes with a variable pigmentary retinopathy. One of the patients had bilateral subretinal fibrosis with a full-thickness macular hole in the right eye. All three patients had single, large-scale mitochondrial DNA (mtDNA) deletions (5.0-7.6 kb in size) with blood mtDNA heteroplasmy levels ranging from below 20% to 57%. Severity of pigmentary retinopathy did not correlate with severity of progressive external ophthalmoplegia, but did correspond grossly with electroretinographic abnormalities, just as the degree of ocular motility restriction and ptosis in each patient correlated with the size of their extraocular muscles on neuroimaging. In addition, the size of the single, large-scale mtDNA deletion and level of mtDNA heteroplasmy corresponded with degree of ocular motility restriction but not with severity of retinopathy. Conclusion: Subretinal fibrosis and macular hole are novel retinal observations which expand clinical profile in Kearns--Sayre syndrome. Genetic testing for mtDNA deletions and heteroplasmy in blood, muscle biopsy, careful ocular and retinal examination including electroretinography, and imaging are indispensable tests for this condition. [ABSTRACT FROM AUTHOR]

Abstract: An 18year-old male with no antecedent of trauma, systemic syndrome or myopia was referred for surgical treatment of a full thickness macular hole in the left eye. A more careful inspection revealed discrete foveal cystic changes in the fellow eye and subtle peripheral depigmented retinal pigment epithelial changes in both eyes. A spectral-domain optical coherence tomography (SD-OCT) scan confirmed, in addition to the full thickness macular hole in the left eye, microcystic spaces in the nuclear layers of both retinae. The diagnosis of X-linked retinoschisis was confirmed with a full field electroretinogram displaying the typical negative ERG. Macular holes are uncommon in the young and those complicating X-linked retinoschisis are rare. This report highlights the importance of investigating the presence of a macular hole in a young patient and illustrates the clinical and SD-OCT clues beyond the foveal center which led to the correct diagnosis of X-linked juvenile retinoschisis. [Copyright &y& Elsevier]

Purpose: To report and analyze the spectral-domain optical coherence tomography (SD-OCT) features of the posterior pole and papillomacular fold (PMF) in posterior microphthalmos (PM) in relation to axial length of the globe and corneal power. Design: Comparative case series. Participants: Forty eyes of 20 PM patients and 70 eyes of 35 age-matched controls. Methods: All PM and control eyes underwent a full biometric evaluation, including axial length and corneal power measurements, and macular SD-OCT. In addition, a novel SD-OCT marker of the posterior pole curvature, termed the posterior pole curvature index (PPCI), was measured along both the vertical and horizontal meridians. The OCT characteristics of the PMF were analyzed and the PPCIs were compared and correlated with the axial length and corneal power in both groups of eyes, and with the PMF severity in PM eyes. Main Outcome Measures: We considered the SD-OCT features of the PMF, the PPCI in PM eyes and controls, and the correlations between PPCI and PMF severity and axial length. Results: All PMFs were predominantly horizontal and partial thickness, sparing the outer retina except the outer plexiform layer. The PPCI in PM eyes (mean ± standard deviation, 145±40.3 microns; median, 144) was significantly larger than that of controls (14±12.8 microns; median, 14; P<0.0001). In addition, the vertical PPCI in PM eyes, but not in controls, was notably larger than the horizontal PPCI (mean difference, 55±30.4 microns; P<0.0001). In PM eyes, the PPCI strongly correlated with PMF height (R = 0.68; P<0.0001), inverse axial length (R = –0.71; P<0.0001), and corneal power (R = 0.49; P = 0.002), and the PMF height correlated strongly and inversely with the axial length (R = –0.62; P<0.0001). Conclusions: The PMF in PM eyes has characteristic morphologic SD-OCT features. The increased posterior pole curvature in PM and its significant correlation with the axial length, the PMF severity and keratometry established in this study suggest that PM eyes are not only shorter than normal, but seem to be abnormally shaped posteriorly, particularly along the vertical meridian. This factor may play a role in the pathogenesis and morphology of the PMF. Financial Disclosure(s): The authors have no proprietary or commercial interest in any of the materials discussed in this article. [ABSTRACT FROM AUTHOR]

Idiopathic juxtafoveolar retinal telangiectasis (IJFT), also known as parafoveal telangiectasis or idiopathic macular telangiectasia, refers to a heterogeneous group of well-recognized clinical entities characterized by telangiectatic alterations of the juxtafoveolar capillary network of one or both eyes, but which differ in appearance, presumed pathogenesis, and management strategies. Classically, three groups of IJFT are identified. Group I is unilateral easily visible telangiectasis occurring predominantly in males, and causing visual loss as a result of macular edema. Group II, the most common, is bilateral occurring in both middle-aged men and women, and presenting with telangiectasis that is more difficult to detect on biomicroscopy, but with characteristic and diagnostic angiographic and optical coherence tomography features. Vision loss is due to retinal atrophy, not exudation, and subretinal neovascularization is common. Group III is very rare characterized predominantly by progressive obliteration of the perifoveal capillary network, occurring usually in association with a medical or neurologic disease. This paper presents a current review of juxtafoveolar retinal telangiectasis, reviewing the classification of these entities and focusing primarily on the two most common types encountered in clinical practice, i.e., groups I and II, describing their clinical features, histopathology, natural history, complications, latest results from imaging modalities and functional studies, differential diagnosis, and treatment modalities. [ABSTRACT FROM AUTHOR]

Objective and Design: A retrospective review study was designed to describe five cases of optic disc melanocytomas with tumor-related visual impairment. Participants: Five patients with optic disc melanocytoma presented with visual complaints to a tertiary eye hospital in Saudi Arabia. Materials and Methods: Demographic and clinical data were analyzed, including the results of ocular examination, lesion laterality, best-corrected Snellen visual acuity, pupillary reflex, visual field testing, color fundus photography, fundus fluorescein angiography, and ophthalmic ultrasound. Results: Visual dysfunction secondary to optic disc melanocytoma was identified. Case 1 had macular star edema with mild tumor enlargement, Case 2 had optic atrophy, Case 3 had juxtapapillary choroidal neovascular membrane with macular involvement, Case 4 had optic disc swelling with an enlarged blind spot, and Case 5 had a large altitudinal visual field defect. Conclusion: Although melanocytomas of the optic disc tend to have a benign behavior with slow evolution and stable vision, they may adversely affect visual function through a variety of mechanisms. [ABSTRACT FROM AUTHOR]

Background: Neovascular glaucoma (NVG) is a severe form of secondary glaucoma caused by the growth of newvessels over the trabecular meshwork. The principal causes are associated with retinal ischemia. Ablative treatmentof the retina can prevent, halt, and even reverse the growth of new vessels on the iris and angle. It is an essential partof the management in most cases. Aims: To determine the causes of NVG among Saudi patients, presented at the King Khaled Eye Specialist Hospital. Methods: A retrospective review of 337 Saudi patients with NVG was obtained. All cases were reviewed for theevidence and causes of the disease, and their basic demographic information. A subset of 100 diabetic patients withPDR was further studied in greater detail for clinical findings and treatment history. Results: The most common primary etiologic associations for NVG included diabetic retinopathy (DR) (56.06%), retinalvenous obstruction (26.40%), and chronic retinal detachment (03.56%). A history of diabetes mellitus was reported in65.04%, systemic arterial hypertension was noted in 61.00%, and evidence of renal impairment was documented in22.00%. Vision was markedly reduced in most eyes with NVG (median: hand motion). The median best visual acuity inthe fellow eye was 20/160. Among the 100 cases, with DR as a cause of NVG, 43 patients had bilateral neovascularizationof the iris (NVI) and 72 had bilateral PDR. Sixty-one patients had no previous laser treatment before the diagnosis of NVG. Among these, who received treatment, the median number of total laser spots was 1,003. Conclusions: Diabetes is a major cause of NVG presented to this tertiary eye care center in the Kingdom of Saudi Arabia followed by retinal venous obstruction. Close monitoring and full pan-retinal photocoagulation (PRP) were absent in most of the diabetic cases. It is important to recognize that the "unaffected" fellow eye, particularly in diabetic patients, may require fairly urgent treatment as well. [ABSTRACT FROM AUTHOR]

Purpose: Novel spectral-domain optical coherence tomography (SD-OCT) findings in posterior microphthalmos (PM) include cystoid changes in the papillomacular fold (PMF). These changes may be misdiagnosed as cystoid macular edema (CME) and may trigger unnecessary treatment including intravitreal injections. We report a case that underscores this scenario aiming to increase awareness of this entity among ophthalmologists. Method: A case report. Results: A 25-year-old male presented with a history of clear lens extraction in both eyes as a refractive procedure. Postoperatively, he was diagnosed with CME and received five intravitreal bevacizumab injections in each eye as well as oral diamox for persistent cystic spaces noted on OCT. He was referred to our institution with the diagnosis of non-responding CME. A complete ophthalmic evaluation, including ultrasonography and SD-OCT, confirmed the diagnosis of PM and PMF with cystic cavities in the PMF. A fluorescein angiogram disclosed absence of macular leakage or optic nerve head staining indicating that the cystic cavities seen on SD-OCT are not due to postoperative CME but are rather the intrinsic cystic changes commonly seen in eyes with PM and a PMF. These cystic cavities were incorrectly thought to represent postoperative CME, which triggered the unnecessary treatment and lack of response. Conclusion: Cystic-like cavities are a component of the PMF in PM eyes and may be misdiagnosed as CME, especially in a postoperative setting. This case underscores the importance of understanding the intrinsic features of the PMF in eyes with PM and may help increase awareness among ophthalmologists of such a potentially confusing scenario. [ABSTRACT FROM AUTHOR]

Many risk factors have been linked to retinal vein occlusions (RVOs) whether central or branch retinal vein occlusion. Ocular risk factors include glaucoma and hypermetropia. Controversy exists to whether short axial length is a risk factor for retinal vein occlusions. We report an extreme case that supports the latter hypothesis. A 33-year-old male presented with decreased visual acuity in the left eye. He turned out to have nanophthalmos with hemiretinal vein occlusion and macular edema with unremarkable systemic work up for retinal vein occlusion except for a glycated hemoglobin (HbA1c) level of 7%. To our knowledge this is the first case report of hemiretinal vein occlusion in the setting of nanophthalmos and suggests that short axial length may be a risk factor for retinal vein occlusion. [ABSTRACT FROM AUTHOR]

The article discusses the case of a 16-year-old boy who developed an acute total rhegmatogenous retinal detachment secondary to a temporal horseshoe tear years after sustaining a traumatic lens injury to his left eye. Subfoveal perfluorocarbon liquid (PFCL) was retained for ten years in the boy. A small amount of PFCL can be retained without major impact on central visual function.

The cover image is based on the Original Article Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome by Hisham Alkuraya et al., https://doi.org/10.1111/cge.13676. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: To report various types of maculopathy caused by momentary exposure to a high-power handheld blue laser. Design: Consecutive case series. Participants: Fourteen eyes of 14 patients. Methods: 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. Main Outcome Measures: Analysis of the types of maculopathy and vitreoretinal pathologic features. Results: 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). Conclusions: 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. [ABSTRACT FROM AUTHOR]