Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp)

TL;DR

A new type of inherited eye disease linked to a PRPH2 gene variant causes distinct macular damage in both eyes.

Contribution

Bilateral sector macular dystrophy is identified as a novel clinical phenotype associated with a PRPH2 variant.

Findings

A 30-year-old female presented with bilateral paracentral macular lesions and no other known causes.

A heterozygous PRPH2 variant c.623G>A (p.Gly208Asp) was found to be associated with this new macular dystrophy.

This is the first report of bilateral sector macular dystrophy in inherited retinal dystrophies.

Abstract

Objective: The clinical presentation of inherited retinal dystrophies associated with pathogenic variants in PRPH2 is highly variable. Here we present bilateral sector macular dystrophy as a novel clinical phenotype. Methods and analysis: Ophthalmologic examination, detailed retinal imaging with optical coherence tomography (OCT), OCT-angiography, fundus and near-infrared autofluorescence and molecular genetic testing were performed on a 30-year-old female. Results: The patient reported the onset of subjective visual disturbances 4.5 months prior to our first examination. Clinical examination and retinal imaging revealed bilateral sharply demarcated paracentral lesions in the temporal lower macula and otherwise normal retinal findings. Patient history revealed no medication or other possible causes for these unusual retinal lesions. Molecular genetic testing revealed a heterozygous c.623G>A variation (p.(Gly208Asp)) in the PRPH2 gene. Conclusions: Bilateral sectoral macular dystrophy has not been reported previously in any inherited retinal dystrophy. This feature adds to the wide spectrum of PRPH2-associated clinical presentations.

Figures