# A case with bilateral C-shaped autofluorescence in retinal degeneration

## TL;DR

A 19-year-old male with a rare genetic condition showed a unique double C-shaped pattern in eye imaging, helping diagnose Optic Atrophy-13.

## Contribution

The paper identifies a novel double C-shaped autofluorescent ring as a potential diagnostic marker for OPA13.

## Key findings

- A de novo SSBP1 missense variant was found in a patient with Optic Atrophy-13.
- Bilateral double C-shaped hyper-autofluorescent rings were observed in fundus autofluorescence imaging.
- Genetic testing confirmed the diagnosis and ruled out inherited causes.

## Abstract

To report a case of a 19-year-old male with Optic Atrophy-13 (OPA13) associated with a de novo heterozygous missense variant in the single-strand DNA-binding protein 1 (SSBP1) gene, characterized by a bilateral double C-shaped hyper-autofluorescent ring on fundus autofluorescence (FAF).

A 19-year-old male exhibited poor visual acuity, pale optic discs, vessel attenuation, and peripheral pigmentary changes. FAF imaging revealed a bilateral double C-shaped hyper-autofluorescent ring, which was not frequently observed. Optical coherence tomography (OCT) showed retinal thinning and ellipsoid zone disruption, while electroretinography (ERG) indicated cone-rod dystrophy. Genetic testing identified a pathogenic SSBP1 missense variant, confirming the diagnosis of OPA13. Parental genetic analysis excluded the variant, establishing it as a de novo one.

This report highlights a novel retinal feature—a double C-shaped autofluorescent ring—associated with OPA13, potentially serving as a diagnostic marker for the disease. The findings emphasize the role of genetic testing in diagnosing OPA13 and distinguishing it from other retinal and optic neuropathies. Recognition of this feature could enhance early diagnosis and management strategies for patients with suspected OPA13.