# Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants

## TL;DR

A 10-month-old child with compound USH2A gene variants was found to have an optic nerve coloboma, a first in nonsyndromic retinitis pigmentosa cases.

## Contribution

This is the first reported case linking optic nerve coloboma with USH2A-related nonsyndromic retinitis pigmentosa.

## Key findings

- The child had compound heterozygous USH2A variants and optic nerve coloboma.
- No other dysmorphic features or ocular anomalies were present.
- This case expands the phenotypic spectrum of USH2A-related disorders.

## Abstract

We present a case of an optic nerve coloboma in a 10-month-old girl found to have compound heterozygous USH2A variants. There were no other dysmorphic features or ocular developmental anomalies. To our knowledge, this is the first report in literature of a concomitant optic nerve coloboma in a case of nonsyndromic retinitis pigmentosa related to USH2A variants.