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Crystalline maculopathy as a clue to a neurocutaneous syndrome
1Department of Ophthalmology, University Health Network, Toronto, Ontario, Canada.
Purpose:
To describe crystalline maculopathy as a diagnostic clue to Sjögren-Larsson syndrome (SLS) and highlight characteristic multimodal imaging findings.
Methods:
Case Review.
Results:
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.
Conclusion:
This case emphasizes the critical role of ophthalmologists in raising early suspicion for systemic genetic syndromes and contributing to multidisciplinary management.
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