Genotype-Specific Patterns and Clinical Implications of Ocular Morbidity in Sickle Cell Disease Patients: Insights from a Tertiary Healthcare Center in India

• Anirudh Patra*

Abstract

ABSTRACT Background: Sickle cell disease (SCD) is a prevalent genetic disorder marked by chronic hemolysis and vaso-occlusive events, leading to multiorgan complications, including significant ocular morbidity. This study aims to elucidate genotype-specific patterns and clinical implications of ocular morbidity in SCD patients at a tertiary healthcare center in western Odisha, India. Methods: A cross-sectional study was conducted at Veer Surendra Sai Institute of Medical Sciences and Research (VSSIMSAR), Burla, Sambalpur, Odisha, from November 2018 to October 2020. A total of 103 SCD patients were enrolled using convenience sampling. Detailed ocular examinations, including visual acuity assessment, anterior segment evaluation, fundoscopy, and additional imaging, were performed. Data were analyzed using SPSS to identify genotype-specific patterns of ocular morbidity. Results: Of the 103 patients, 60 had HbSS and 43 had HbSC genotype. The overall prevalence of ocular manifestations was 76.6%, with HbSC patients showing a slightly higher prevalence (81.4%) compared to HbSS patients (73.3%). Conjunctival corkscrew vessels were significantly more prevalent in HbSC patients (p=0.041). No significant differences were found between genotypes for other anterior segment signs or non-proliferative and proliferative fundus signs. Conclusion: Our study reveals a high prevalence of ocular morbidity in SCD patients, with notable genotype-specific patterns. HbSC patients are more prone to certain ocular manifestations, underscoring the need for genotype-specific screening and management strategies. Early detection and targeted interventions can mitigate vision loss and improve patient outcomes.

Keywords

Sickle Cell Disease (SCD), Ocular Morbidity, Genotype-Specific Patterns, HbSS Genotype, HbSC Genotype, Proliferative Sickle Retinopathy (PSR), Anterior Segment Signs, Fundoscopy, Tertiary Healthcare Center, Early Detection and Intervention