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Outer Retinal Abnormalities in a Patient with Danon Disease
Ayaka Hasegawa1, Kousuke Noda1, Akio Fujiya1
1Departments of Ophthalmology; and.
Retinal Cases & Brief Reports
|September 5, 2020
Summary
High-resolution imaging revealed outer retinal abnormalities in Danon disease, suggesting early photoreceptor changes due to lysosomal associated membrane protein 2 dysfunction.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Danon disease is a rare genetic disorder caused by mutations in the LAMP2 gene, leading to lysosomal dysfunction and accumulation of autophagosomes.
- Lysosomal associated membrane protein 2 (LAMP2) is crucial for autophagy, a cellular process involved in degrading damaged components.
Observation:
- A 26-year-old female with genetically confirmed Danon disease presented with peripheral retinal pigmentary changes.
- High-resolution imaging, including spectral-domain optical coherence tomography (SD-OCT) and adaptive optics retinal camera (AORC), was utilized for ocular evaluation.
Findings:
- SD-OCT revealed disruptions in the ellipsoid and interdigitation zones, retinal pigment epithelium irregularity, and outer nuclear layer hyperreflectivity.
- AORC demonstrated an ambiguous macular cone mosaic pattern, indicating potential photoreceptor abnormalities.
Implications:
- These findings may represent early outer retinal changes in Danon disease, linked to LAMP2 dysfunction and impaired autophagy in photoreceptors.
- Further research is needed to understand the long-term consequences of these early changes and their progression towards outer retinal degeneration.
