Characterization of Retinal Thickness in Individuals with Albinism: Baseline Data for a Black South African Population

Abstract

Introduction

The central retina is responsible for several visual functions and continues to develop postnatally. In albinism, which is a genetic disorder characterized by impaired melanin biosynthesis, the development of the central retina is prematurely arrested and results in foveal hypoplasia. Retinal thickness measurements can be determined non-invasively using optical coherence tomography systems. This article reports on the retinal thickness measurements of individuals with albinism in South Africa to aid in the assessment and management of affected individuals.

Methods

The study used a comparative research design and included 60 individuals (30 albinism and 30 controls) aged from 10 to 30 years who accessed the eye clinic at a tertiary institution in KwaZulu-Natal, South Africa. The Optovue iVue100 optical coherence tomographer was used to measure retinal thickness in the nine Early Treatment Diabetic Retinopathy Study (ETDRS) sectors including the central foveal, parafoveal and perifoveal regions. Study data were analysed using descriptive and inferential statistics.

Results

The mean central foveal thickness was significantly higher in individuals with albinism compared with controls (289 µm versus 239 µm, p < 0.001). In contrast, control participants showed thicker retinal thickness measurements in the other ETDRS sectors (p < 0.001). The nasal and temporal quadrants were thickest and thinnest, respectively, in the parafoveal and perifoveal regions for the albinism and control groups.

Conclusion

Individuals with albinism, aged from 10 to 30 years, have higher central foveal thickness but thinner retinal thickness measurements in the parafoveal and perifoveal regions. Optometric personnel should consider these measurements when assessing individuals with albinism with foveal retinal diseases.