Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

PURPOSE: To characterize the retinal phenotype in RNU4ATAC-associated Roifman syndrome. METHODS: Ten patients (including 8 males) with molecularly confirmed Roifman syndrome underwent detailed ophthalmologic evaluation including fundus imaging, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), and electroretinography (ERG). Six patients had follow-up eye exams. All patients also underwent comprehensive examination for features of extra-retinal Roifman syndrome. RESULTS: All patients had biallelic RNU4ATAC variants. Nyctalopia was common (7/10). Visual acuity at presentation ranged from 20/20 to 20/200 (Age Range: 5-41 years). Retinal exam revealed features of generalized retinopathy with mid-peripheral pigment epithelial changes. A para or peri-foveal ring of hyper-autofluorescence was the commonest FAF abnormality noted (6/8). The SD-OCT demonstrated relative preservation of the foveal ellipsoid zone in six cases; associated features included cystoid changes (5/10) and posterior staphyloma (3/10). The ERG was abnormal in all patients; nine showed generalized rod-cone dystrophy, whilst one patient with sectoral retinal involvement only had isolated rod dystrophy (20 years old). On follow-up examination (Mean duration: 8.16 years), progressive loss of visual acuity (2/6), mid-peripheral retinal atrophy (3/6) or shortening of ellipsoid zone width (1/6) were observed. CONCLUSION: This study has characterized the retinal phenotype in RNU4ATAC-associated Roifman syndrome. Retinal involvement is universal, early-onset, and overall, the retinal and FAF features are consistent with rod-cone degeneration that is slowly progressive over time. The sub-foveal retinal ultrastructure is relatively preserved in majority of patients. Phenotypic variability independent of age exists, and more study of allelic- and sex-based determinants of disease severity are necessary.

Effects of Early Treatment of Retinopathy of Prematurity at a Tertiary Care Hospital in Saudi Arabia: A Retrospective Study.

PURPOSE: To estimate the prevalence of retinopathy of prematurity (ROP) among high-risk neonates and to illuminate the benefits of early treatment in type 2 ROP (zone II, stage 3 without plus) and ROP milder than type 1 with pre-plus disease (zone III, stage 3). METHODS: This retrospective cross-sectional study was conducted among 307 high-risk neonates (614 eyes) with a gestational age of 32 weeks or younger at birth and a birth weight of 1,500 g or less, from 2011 to 2016. Treatment was initiated for neonates with low-risk type 2 ROP and ROP milder than type 1 with pre-plus disease, whenever retinopathy was evident for 3 clock hours with or without vitreous hemorrhage. Post-treatment progression was recorded. RESULTS: The prevalence of ROP in the current study was 33.71%. Two hundred seven eyes had ROP; 47.34% had mild retinopathy that did not require treatment, and 52.66% received laser treatment, including the early treated group. Of the 207 eyes with ROP, 46.86% had low-risk type 2 ROP disease and ROP milder than type 1 with pre-plus disease, and underwent photocoagulation therapy. After treatment, 15.38% and 10.71% eyes were stable, 84.62% and 88.10% eyes had regressed retinopathy, and 0% and 1.19% progressed in both groups, respectively. CONCLUSIONS: Early treatment of type 2 ROP and ROP milder than type 1 with pre-plus disease in certain cases significantly decreased the rate of progression to more advanced stages and resulted in good clinical outcomes. [J Pediatr Ophthalmol Strabismus. 2021;58(4):240-245.].

Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities.

INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth. At 6 months, ophthalmic examination revealed that both twins were unable to blink in response to light, or to fixate and follow a moving object. Both twins had prominent horizontal nystagmus. Slit-lamp examination demonstrated varying degrees of central leukoma (corneal opacity) associated with iridocorneal adhesion, which is characteristic of type I Peters anomaly. No cataractous changes were observed. Normal intraocular pressure and disorganized retina were observed. Pupillary abnormalities included bilaterally underdeveloped pupils and bilateral absence of pupils was noted. Ocular MRI showed bilateral microphthalmia and optic nerve hypoplasia, with a small optic chiasm in both twins. At this age, the diagnosis of Peters anomaly was made. At 16 months of age, both twins developed deep venous thrombosis and purpuric skin lesions. Investigations revealed a hereditary thrombophilia secondary to a homozygous mutation causing protein C deficiency, which is a rare thrombotic condition. Ocular ultrasonography revealed bilateral vitreous hemorrhaging linked to altered coagulation. One twin developed bilateral inguinal hernia and cryptorchidism. CONCLUSION: The novel concordance of Peters anomaly in these monozygotic twins sharing a mutation in PROC gene provides further evidence that this anomaly has a genetic basis. Hypoplasia of the optic nerves and optic chiasm, along with severe protein C deficiency and bilateral absence of the pupils, are associated comorbidities that have not previously been reported with this anomaly.