Crystalline maculopathy as a clue to a neurocutaneous syndrome.

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.