# Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

## TL;DR

A rare case of X-linked foveal hypoplasia is reported in two brothers, suggesting a genetic cause for their vision issues.

## Contribution

This is the first reported case of X-linked recessive inheritance of foveal hypoplasia in males.

## Key findings

- A five-year-old boy with bilateral foveal hypoplasia was diagnosed using OCT.
- A family history of similar cases in male relatives suggests X-linked recessive inheritance.
- Genetic testing is recommended to confirm the inheritance pattern and underlying cause.

## Abstract

Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several conditions such as albinism, aniridia, microphthalmos, congenital nystagmus, or other diseases. Genetic and non-genetic causes can play a role in foveal pit development. However, the exact mechanism that causes foveal pit absence has not been determined. This study reports a five-year-old boy who presented to the eye clinic with bilateral poor vision since birth. Optical coherence tomography (OCT) was performed and confirmed the absence of the foveal pit in both eyes. Diagnosis of foveal hypoplasia was made. The parents reported a positive family history of similar conditions, specifically, a paternal grandfather, a male paternal cousin, and a brother. To the best of our knowledge, this is the first reported case of foveal hypoplasia, with a positive family history in the male gender specifically. Thus, inheritance is presumed to be X-linked recessive. We acknowledge that further investigation by genetic testing would offer further insight into this case.