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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.

Background/purpose: To report characteristics and treatment outcome of choroidal neovascularization (CNV) secondary to laser photocoagulation and photodynamic therapy (PDT) in central serous chorioretinopathy., Methods: Retrospective analysis of 12 eyes of 12 patients, who were diagnosed to have CNV secondary to laser photocoagulation or PDT for central serous chorioretinopathy. Collected data included demographic details, history of presenting illness, clinical examination details including visual acuity at presentation, and follow-up with imaging and treatment details. Main outcome measures were resolution of CNV activity at the last follow-up. Secondary outcomes included change in visual acuity at final follow-up from baseline, number of injections, treatment-free interval, and adverse events., Results: This study included 12 eyes of CNV secondary to laser photocoagulation (8 eyes) and PDT (4 eyes). Mean age of study subjects was 47.6 ± 15.4 years (range 33-82) with 8 men and 4 women. Mean interval between laser photocoagulation/PDT and diagnosis of CNV was 23.9 ± 54.5 months. All subjects had unilateral CNV with classic CNV on fluorescein angiography. Eight eyes had extrafoveal CNV, and four eyes had juxtafoveal CNV. Baseline best-corrected visual acuity was 0.56 ± 0.51 (Snellen equivalent 20/60) logMAR, and final best-corrected visual acuity was 0.53 ± 0.51 (Snellen equivalent 20/60) logMAR with no significant difference (P = 0.84). All four eyes that presented with the CNV secondary to PDT group required additional PDT treatment because of poor response to antivascular endothelial growth factor therapy. At the last follow-up, only one patient in the laser group had active CNV; the remaining patients of both groups had scarred CNV. Mean follow-up duration was 22.4 ± 23.1 months. Mean number of injections was 3.16 ± 2.62. Longest treatment-free interval was 8.29 ± 11.4 months., Conclusion: Antivascular endothelial growth factor therapy appears to be safe and efficacious in CNVs secondary to laser photocoagulation and PDT. Choroidal neovascularizations secondary to PDT appear to be more resistant to antivascular endothelial growth factor therapy than those because of laser photocoagulation and required additional PDT.

Purpose: To study intraocular pressure (IOP) trends and risk factors of IOP elevation after intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema., Methods: A retrospective review of 760 eyes treated with intravitreal anti-vascular endothelial growth factor injections for diabetic macular edema was performed. The rate and risk factors of IOP elevation were assessed. Intraocular pressure elevation was defined as an increase above baseline IOP by ≥ 6 mmHg, increase above baseline by > 20%, or IOP elevation to > 24 mmHg on 2 or more consecutive visits after treatment. When more than one pretreatment IOP reading was available, baseline IOP was calculated as the mean of the available pretreatment IOP readings (up to a maximum of three last IOP readings). Intraocular pressure elevation was considered transient unless it was maintained throughout the follow-up or required treatment (persistent elevation)., Results: Over a mean follow-up of 18 months, persistent and transient IOP elevation occurred in 44 (5.8%) and 53 (7%) eyes, respectively. The majority of eyes with persistent IOP elevation (70.4%) showed IOP elevation of > 20% from baseline. Only 13 eyes (1.71%) met the more strict criteria (> 6 mmHg from baseline or an IOP elevation > 24 mmHg). Final IOP was higher in the persistent IOP elevation group than the rest of the eyes (P < 0.001). Only the number of injections was associated with IOP elevation (P < 0.001)., Conclusion: Persistent IOP elevation after intravitreal anti-vascular endothelial growth factor injections for diabetic macular edema is uncommon but may be associated with a higher number of injections.

The morphology of optic disc dysplasia is the most consistent finding in the papillorenal syndrome, an autosomal-dominant syndrome of eye and kidney maldevelopment often associated with the PAX2 mutation. In the absence of a recognized family history, the diagnosis is typically not made until renal disease is evident. We report an infant whose characteristic fundus findings led to the early diagnosis of the papillorenal syndrome before the potential development of renal dysfunction.