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

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Inherited retinal dystrophies (IRDs) exhibit diverse clinical presentations.
• Pathogenic variants in the PRPH2 gene are known causes of IRDs.
• The clinical spectrum associated with PRPH2 variants is broad but may have uncharacterized phenotypes.

Purpose of the Study:

• To describe a novel clinical phenotype, bilateral sector macular dystrophy.
• To investigate the genetic basis of this new phenotype.
• To expand the understanding of PRPH2-associated inherited retinal dystrophies.

Main Methods:

• Comprehensive ophthalmologic examination.
• Advanced retinal imaging including optical coherence tomography (OCT) and OCT-angiography.
• Fundus and near-infrared autofluorescence.
• Molecular genetic testing for PRPH2 gene variants.

Main Results:

• A 30-year-old female presented with recent-onset visual disturbances.
• Retinal imaging revealed bilateral, sharply demarcated paracentral lesions in the temporal macula.
• Molecular testing identified a heterozygous c.623G>A (p.(Gly208Asp)) variant in the PRPH2 gene.

Conclusions:

• Bilateral sector macular dystrophy represents a previously unreported clinical presentation in inherited retinal dystrophies.
• This finding highlights the significant clinical variability associated with PRPH2 gene mutations.
• The study contributes to a more comprehensive understanding of PRPH2-related retinal disorders.