Crystalline maculopathy as a clue to a neurocutaneous syndrome

Abstract

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.