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Photoreceptor dysfunction in central areolar choroidal dystrophy

R J Rothman1

  • 1Retina & Vitreous Consultants, Saint Louis, MO 63117.

Annals of Ophthalmology
|January 1, 1994
PubMed
Summary
This summary is machine-generated.

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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.

Related Experiment Videos

  • Understanding these mechanisms can aid in diagnosing and managing macular dystrophies.