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Variable expressivity in fundus albipunctatus.

S Margolis1, I M Siegel, H Ripps

  • 1New York Eye and Ear Infirmary, New York.

Ophthalmology
|November 1, 1987
PubMed
Summary
This summary is machine-generated.

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Fundus albipunctatus is a rare retinal disorder characterized by yellowish lesions and impaired night vision. This case highlights a milder form with unique photopigment kinetics, aiding in differential diagnosis.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Retinal Diseases

Background:

  • Fundus albipunctatus is an inherited retinal disorder.
  • Characterized by yellowish spots (lesions) in the fundus and impaired night vision (nyctalopia).
  • Typically presents with significant delays in dark adaptation and abnormal electroretinogram (ERG) findings.

Observation:

  • A 14-year-old girl with nyctalopia and fundus lesions.
  • Dark adaptometry revealed prolonged cone and rod function recovery and delayed cone-rod transition.
  • Scotopic ERG showed delayed but normal b-wave amplitudes after dark adaptation.

Findings:

  • Rhodopsin regeneration half-time was 16 minutes, four times longer than normal.
  • Fundus reflectometry indicated rhodopsin density at the lower limit of normal.

Related Experiment Videos

  • Photopigment kinetics were faster than previously reported fundus albipunctatus cases, suggesting a spectrum of disease severity.

    • Implications:

    • This case suggests a broader spectrum of functional and funduscopic abnormalities in fundus albipunctatus.
    • Fundus appearance, dark adaptation, and rhodopsin kinetics are key for distinguishing it from other retinal fleck diseases.
    • Understanding these variations aids in accurate diagnosis and management of inherited retinal disorders.