First case of peripheral retinal avascularity reported in patient with SLOS

Doctors have reported the first case of peripheral avascularity of the retina in a patient diagnosed with Smith-Lemli-Opitz syndrome (SLOS), in the Journal of American Association for Pediatric Ophthalmology. This finding underscores the importance of early referral and continuous ophthalmologic follow-up in patients with this rare autosomal recessive disorder.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase (DHCR7) gene, situated on the chromosomal region 11q13. These mutations result in reduced cholesterol levels and increased 7-dehydrocholesterol (7DHC) levels, leading to various complications affecting multiple organs.

Although ophthalmic abnormalities related to SLOS can vary, the most commonly observed abnormality is blepharoptosis. However, the recent case report highlights a previously unidentified ocular manifestation of the syndrome, specifically peripheral retinal avascularity.

This finding suggests that SLOS can have a broader phenotypic expression than previously recognized.

Reference
López-Cañizares A, Al-Khersan H, Fernandez MP, et al. Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up. J AAPOS. 2023;27(2):100-102. doi: 10.1016/j.jaapos.2022.11.007. Epub 2022 Dec 21. PMID: 36563894.