Crystalline maculopathy as a clue to a neurocutaneous syndrome.

Authors

Tina Tang, Brian Ballios

Published in

Ophthalmic genetics. Pages 1-2. Sep 22, 2026. Epub Sep 22, 2026.

Abstract

To describe crystalline maculopathy as a diagnostic clue to Sjögren-Larsson syndrome (SLS) and highlight characteristic multimodal imaging findings.
Case Review.
Using multimodal imaging, including OCT and fundus autofluorescence, we provide detailed structural correlates of crystalline deposits of a 21-year-old female with later genetically confirmed homozygous ALDH3A2 mutations.
This case emphasizes the critical role of ophthalmologists in raising early suspicion for systemic genetic syndromes and contributing to multidisciplinary management.

PMID:
42768951
Bibliographic data and abstract were imported from PubMed on 22 Sep 2026.

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