Article
Genetics and optical coherence tomography features in a child with an achromatic retinal patch.
Ophthalmic genetics - 1 Feb 2022
Ashkenazy Noy, Yannuzzi Nicolas A, Berrocal Audina M
Abstract excerpt
BACKGROUND: Achromatic retinal patch is associated with tuberous sclerosis. Its role as a diagnostic feature is often overlooked. MATERIALS AND METHODS: A clinical case was retrospectively reviewed and reported. RESULTS: A 5-year-old male with a history of seizure disorder and a germline TSC2 variant was found to have a hypopigmented lesion in the nasal macula, most consistent with an achromatic retinal patch....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.