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Published on: October 13, 2023
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME
Tavish Nanda1, Jaclyn L Kovach2
1Harkness Eye Institute, Columbia University Medical Center.
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.
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