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Central areolar pigment epithelial dystrophy.

V M Hermsen, G F Judisch

    Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde
    |January 1, 1984
    PubMed
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    Central areolar pigment epithelial dystrophy, an autosomal dominant disorder, presents with variable macular changes and visual acuity. Metabolic screening revealed no abnormalities in affected individuals.

    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Central areolar pigment epithelial dystrophy is a rare inherited retinal disorder.
    • Autosomal dominant inheritance patterns are observed in some families.

    Purpose of the Study:

    • To characterize the clinical presentation and inheritance pattern of central areolar pigment epithelial dystrophy in a multi-generational family.
    • To investigate potential metabolic links to the condition.

    Main Methods:

    • Pedigree analysis of 7 affected and 4 normal individuals across three generations.
    • Ophthalmic examination including visual acuity assessment and funduscopy.
    • Urinary and plasma metabolic screening, including amino acid levels.

    Main Results:

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  • The family pedigree suggested autosomal dominant inheritance with variable expressivity.
  • Macular changes ranged from drusen-like defects to coloboma-like lesions.
  • Visual acuities varied widely, with some individuals having excellent acuity but small central scotomas.
  • Metabolic screening, including urinary and plasma amino acid levels, was normal.

    • Conclusions:

    • Central areolar pigment epithelial dystrophy exhibits autosomal dominant inheritance with significant clinical variability.
    • The observed macular phenotypes are diverse.
    • No metabolic abnormalities were identified as a cause or correlate of the condition in this family.