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Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy.
Pippa Staps1, Anita de Breuk2, Johannes R M Cruysberg2
1Department of Pediatric Neurology, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Case Reports in Ophthalmology
|June 15, 2022
Summary
Sjögren-Larsson syndrome (SLS) maculopathy involves reduced foveal capillary density and an enlarged foveal avascular zone. Optical coherence tomography angiography revealed these vascular abnormalities in SLS patients.
Area of Science:
- Ophthalmology
- Neurology
- Genetics
Background:
- Sjögren-Larsson syndrome (SLS) is a rare inherited neurometabolic disorder.
- SLS is characterized by intellectual disability, spasticity, and a distinctive crystalline maculopathy.
- The role of vascular abnormalities in SLS maculopathy pathogenesis remains unclear.
Observation:
- A cross-sectional study utilized optical coherence tomography angiography (OCT-A) to investigate vascular changes in the macula of SLS patients.
- Four patients with varying stages of SLS maculopathy underwent comprehensive ophthalmological examinations, including OCT-A and spectral domain OCT.
- OCT-A imaging was compared with data from eight eyes of four healthy controls.
Findings:
- All SLS patients exhibited reduced capillary density around the fovea.
- The foveal avascular zone (FAZ) was significantly enlarged in SLS patients (mean 0.70 mm²) compared to controls (mean 0.34 mm²).
- Two SLS patients presented with telangiectatic vessels in the deep capillary layer.
Implications:
- OCT-A demonstrates significant capillary paucity and morphological vascular abnormalities in SLS maculopathy.
- These findings suggest that vascular dysfunction may contribute to the pathogenesis of SLS-related retinal changes.
- Further research into SLS vascular abnormalities could inform potential therapeutic strategies.
