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[Stargardt's disease and its intrafamilial variability].
N Lansel1, G Niemeyer, A Thölen
1Universitäts-Augenklinik, Zürich, Schweiz.
Klinische Monatsblatter Fur Augenheilkunde
|June 23, 2000
Summary
Stargardt's disease, a juvenile macular dystrophy, presents significant diagnostic challenges due to its varied symptoms and progression. Even within families, the disease course and visual prognosis for Stargardt's disease are highly unpredictable.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Stargardt's disease, a form of juvenile macular dystrophy, poses diagnostic challenges due to its diverse clinical presentations and potential for varied outcomes.
- The wide spectrum of phenotypic variation necessitates careful diagnostic consideration.
Observation:
- This study documents the diagnosis and variable course of Stargardt's disease in three siblings.
- Diagnostic methods included clinical examination, fluorescein angiography, and Ganzfeld-electroretinography (ERG) following the International Society for Clinical Electrophysiology of Vision (ISCEV) protocol.
Findings:
- All siblings exhibited retinal abnormalities consistent with Stargardt's disease.
- While the youngest sibling showed reduced visual acuity after 10 years, the older siblings maintained good central vision.
- Diagnostic confirmation was achieved through biomicroscopy, fluorescein angiography, and ERG findings.
Implications:
- The diagnosis of Stargardt's disease can be established even in later life, with cases identified in the 7th decade.
- Significant variability in disease progression and outcomes exists, even among affected family members.
- Visual prognosis for Stargardt's disease requires cautious assessment due to this inherent unpredictability.