# Amblyopia in a Young Child With an Atypical Response to Treatment: A Case Report

## TL;DR

A young child with amblyopia showed an atypical response to treatment, leading to the diagnosis of ocular albinism through OCT and genetic testing.

## Contribution

The case demonstrates the importance of OCT and genetic testing in diagnosing atypical amblyopia cases.

## Key findings

- OCT revealed abnormal foveal contour and fundus pigmentation in a child with amblyopia.
- Genetic testing confirmed pathogenic variants in the TYR gene, diagnosing ocular albinism.

## Abstract

Amblyopia is a prevalent and treatable cause of visual impairment in children, often responding well to timely intervention. Clinicians should investigate potential subtle structural abnormalities when expected improvements are not achieved. We present the case of a three-year-old blonde male with decreased vision and high astigmatism, identified during routine screening. Initial visual gains with spectacle correction suggested isometropic amblyopia; however, limited improvement over time led to further investigation. Optical coherence tomography (OCT) revealed abnormal foveal contour, and light fundus pigmentation raised suspicion of ocular albinism (OA), a diagnosis later confirmed by identifying pathogenic variants in the TYR gene. This case highlights the value of OCT and genetic testing in diagnosing OA, allowing clinicians to provide targeted support for improved visual function and quality of life.