Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Inherited retinal dystrophies (IRDs) are a group of rare diseases involving more than 340 genes and a variety of clinical phenotypes that lead to significant visual impairment. The aim of this study is to evaluate the rates and genetic characteristics of IRDs in the southeastern region of the United States (US). A retrospective chart review was performed on 325 patients with a clinical diagnosis of retinal dystrophy. Data including presenting symptoms, visual acuity, retinal exam findings, imaging findings, and genetic test results were compiled and compared to national and international IRD cohorts. The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystrophies identified clinically were non-syndromic retinitis pigmentosa (29.8%), Stargardt disease (8.3%), Usher syndrome (8.3%), cone-rod dystrophy (8.0%), cone dystrophy (4.9%), and Leber congenital amaurosis (4.3%). Of the 101 patients (31.1%) with genetic testing, 54 (53.5%) had causative genetic variants identified. The most common pathogenic genetic variants were USH2A (n = 11), ABCA4 (n = 8), CLN3 (n = 7), and CEP290 (n = 3). Our study provides initial information characterizing IRDs within the diverse population of the southeastern US, which differs from national and international genetic and diagnostic trends with a relatively high proportion of retinitis pigmentosa in our African American or Black population and a relatively high frequency of USH2A pathogenic variants.

Retinopathy of prematurity: screening and treatment in Costa Rica.

AIM: To determine the recent demographic data, risk factors and results of retinopathy of prematurity (ROP) screening and treatment in Costa Rica. METHODS: The medical records of all preterm infants meeting ROP screening criteria (≤34 weeks' gestational age (GA) or birth weight (BW) ≤1750g, and those determined at risk by neonatologists) in the national healthcare system, Costa Rica, January 2010-December 2014, were retrospectively reviewed. The numbers and percentages of infants with ROP, risk factors, percentage of patients treated and treatment outcomes were determined. Comparison is made with screening criteria and literature reports of ROP incidence in other countries. RESULTS: The study population included 3018 preterm infants. Overall, 585 patients (585/3018, 19.4%) were found to have ROP. Of these, 15.4% (90 patients) required laser treatment, and 53% of those requiring treatment had BW <1000g. Five babies requiring treatment were ≥32 weeks' GA but with BW ≤1750g. Aggressive posterior disease was found in nine patients, and two infants of those screened (2/3018, 0.07%) suffered severe visual impairment during the 5-year study period. CONCLUSION: We provide comprehensive data of ROP care in Costa Rica allowing assessment and comparison of screening criteria and protocol.