Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous <i>ABCA4</i> Variants: A Case Report and Diagnostic Challenge.

ABSTRACT: Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration. Retinitis Pigmentosa (RP) is a less common but recognized ABCA4-associated phenotype, typically involving severe, pan-retinal degeneration. A 25-year-old male presented with a 5-year history of nyctalopia and progressive peripheral visual field loss. Best-corrected visual acuity was 1/20 in the right eye and 20/20 in the left eye. Fundus examination revealed pale optic discs, attenuated retinal arteries, and peripheral bone spicule-like pigment deposits, with notable sparing of the macula. Genetic analysis identified compound h

SUBMITTER: Li N 

PROVIDER: S-EPMC12740048 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature