Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
DOI: 10.7759/cureus.79257
Institution: University of Miami Health System
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4407683469