Abstract
PURPOSE: To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings. METHODS: Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging. RESULTS: Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings. DISCUSSION: In adults with Sjogren-Larsson Syndrome, crystalline retinopathy can progress to macular atrophy and the appearance of lipofuscin accumulation.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 251-254 |
| Number of pages | 4 |
| Journal | Retinal cases & brief reports |
| Volume | 13 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 1 2019 |
ASJC Scopus subject areas
- Ophthalmology
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Nanda, T., & Kovach, J. L. (2019). OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. Retinal cases & brief reports, 13(3), 251-254. https://doi.org/10.1097/ICB.0000000000000583