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Related Experiment Videos

Sporadic butterfly macular dystrophy

J R Mejia, R G Gieser

    Annals of Ophthalmology
    |November 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    A rare butterfly-shaped pigment dystrophy of the fovea was observed in a family, presenting as an autosomal dominant trait. Further examination revealed no macular abnormalities in other family members, suggesting a specific genetic pattern.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • A familial foveal pigmentary dystrophy, termed butterfly-shaped pigment dystrophy, was previously described by Deutman et al.
    • This condition was hypothesized to be inherited as an autosomal dominant trait.

    Observation:

    • A 23-year-old white female presented with clinical features consistent with butterfly-shaped pigment dystrophy of the fovea.
    • A comprehensive ophthalmological examination was conducted on twelve family members across three generations.

    Findings:

    • The proband exhibited characteristic butterfly-shaped pigmentary changes in the fovea.
    • No similar macular abnormalities were detected in the other eleven examined family members.

    Implications:

    • This case expands the understanding of butterfly-shaped pigment dystrophy of the fovea.

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  • The findings suggest potential variability in expressivity or incomplete penetrance of the presumed autosomal dominant trait within this family.