Relatively preserved retinal function in RPE65-associated retinopathy: a case report

Area of Science:

• Ophthalmology
• Genetics
• Retinal Dystrophies

Background:

• RPE65-associated retinopathy is a rare inherited retinal dystrophy.
• It is caused by variants in the RPE65 gene, crucial for visual pigment regeneration.

Purpose of the Study:

• To describe a case of RPE65-associated retinopathy in a pediatric patient.
• To characterize the clinical and genetic findings, highlighting a milder phenotype.

Main Methods:

• Ophthalmic examinations including fundus photography, autofluorescence, optical coherence tomography, and full-field electroretinography (ERG).
• Whole exome sequencing for genetic analysis to identify RPE65 gene variants.
• Clinical assessment of a 9-year-old male with suspected inherited retinal dystrophy.

Main Results:

• Identified compound heterozygous variants in the RPE65 gene: a known (p.Arg515Trp) and a novel (p.Lys154Asn) variant.
• Fundus examination showed normal posterior pole with midperipheral white dots; autofluorescence was decreased.
• ERG showed reduced amplitudes in both eyes, with some recovery in the right eye, and preserved outer retinal layers on OCT.

Conclusions:

• RPE65-associated retinopathy can present with a milder phenotype, even with preserved retinal structure.
• Consider RPE65 variants in the differential diagnosis of inherited retinal dystrophies, particularly when ERG abnormalities are present with seemingly normal retinal structure.