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Case Reports
. 2019;13(3):251-254.
doi: 10.1097/ICB.0000000000000583.

OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME

Tavish Nanda  1 , Jaclyn L Kovach  2
Affiliations
Case Reports

OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME

Tavish Nanda et al. Retin Cases Brief Rep. 2019.

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.

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Figures

Figure 1
Figure 1
A—Fundus photo OD showing intraretinal crystals in the macular region along with retinal pigmentary changes and atrophy. Several hyperpigmented spots of greater lipofuscin accumulation can be seen. B—Fundus Autoflouresence OD showing scattered hyperflouresence consistent with pigmented regions of the macula and areas of increased lipofuscin accumulation, and patchy hypoflouresence indicative of RPE atrophy. C— SDOCT with crystals (yellow arrow) noted in the OPL, IPL, and nerve fiber layer OD. Additional regions of EZ and RPE disruption with subretinal lipofuscin accumulation is appreciated. Foveal pseudocystic atrophy is also appreciated. D—Subretinal (presumably lipofuscin) deposit.
Figure 2
Figure 2
A—Fundus photo OD with milder crystalline deposition and RPE atrophy than Patient 1. A single nidus of dark pigmentation secondary to lipofuscin accumulation is noted in the superotemporal region of the macula (arrow). B—FAF with hyperflouresence from lipofuscin accumulation. C—SDOCT OD shows crystalline maculopathy and pseudocystic atrophy with significant retinal thinning.
Figure 3
Figure 3
A—Fundus photo OD with prominent pigmentary changes and retinal atrophy, and diffuse fundus hypopigmentation. B—FAF shows foveal hyperflouresence and a ring of hypoflouresence. C—SDOCT reveals fewer crystals relative to the patient’s siblings. There is prominent EZ and RPE disruption, and subretinal (presumably) lipofuscin accumulation.
See this image and copyright information in PMC

References

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