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Photoreceptor dysfunction in central areolar choroidal dystrophy
1Retina & Vitreous Consultants, Saint Louis, MO 63117.
Annals of Ophthalmology
|January 1, 1994
Summary
Central areolar choroidal dystrophy (CACD) is a rare genetic eye disease. Research suggests generalized photoreceptor dysfunction may be linked to this condition.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Central areolar choroidal dystrophy (CACD) is a rare, autosomal dominant macular dystrophy.
- It is characterized by progressive geographic atrophy of the macula.
Observation:
- Funduscopic, angiographic, and electrophysiologic findings were studied in three generations of a family with CACD.
- Early signs include symmetric retinal pigment epithelium mottling, often in a bull's-eye pattern.
Findings:
- The oldest patient exhibited generalized photoreceptor dysfunction.
- This dysfunction was evidenced by delayed electroretinographic implicit timing.
Implications:
- Age-related generalized photoreceptor abnormality is hypothesized as a factor in CACD.
- Understanding these mechanisms can aid in diagnosing and managing macular dystrophies.