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.
Three adult siblings with Sjogren–Larsson Syndrome underwent ophthalmic examination and imaging.
Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings.
In adults with Sjogren–Larsson Syndrome, crystalline retinopathy can progress to macular atrophy and the appearance of lipofuscin accumulation.
The authors present the first reported spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) documentation of lipofuscin accumulation and retinal pigment epithelium atrophy, which are advanced macular findings associated with Sjogren–Larsson Syndrome in three nonconsanguineous white adult siblings.
*Harkness Eye Institute, Columbia University Medical Center; and
†Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida.
Reprint requests: Jaclyn L. Kovach, MD, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 3880 Tamiami Trail N, Naples, FL 34103; e-mail: email@example.com
Funding was provided by NIH center grant P30-EY014801 and by an unrestricted grant to the University of Miami from Research to Prevent Blindness, New York, NY. The sponsor or funding organization had no role in the design or conduct of this research.
None of the authors has any financial/conflicting interests to disclose.
This article was completed at Bascom Palmer Eye Institute Miller School of Medicine at the University of Miami.