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Denver Papillae Protocol for Objective Analysis of Fungiform Papillae
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A family study of fundus flavimaculatus.

E F Carpel, R E Kalina

    American Journal of Ophthalmology
    |August 1, 1975
    PubMed
    Summary

    Fundus flavimaculatus, a rare genetic eye disorder, was identified in three sisters. Autosomal recessive inheritance was suggested by a four-generation family study.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Fundus flavimaculatus is a rare inherited retinal disorder.
    • Macular involvement can lead to significant visual impairment.

    Purpose of the Study:

    • To characterize the clinical presentation and inheritance pattern of fundus flavimaculatus in a multi-generational family.

    Main Methods:

    • Ophthalmoscopic examination of affected individuals and family members.
    • Pedigree analysis to determine the mode of inheritance.

    Main Results:

    • Three sisters (ages 14-25) presented with ophthalmoscopic findings consistent with fundus flavimaculatus.
    • Macular atrophy was observed in affected individuals.
    • No other family members showed signs of the condition.
    • A four-generation pedigree suggested autosomal recessive inheritance.

    Conclusions:

    • The study identified fundus flavimaculatus in three sisters with characteristic macular disturbances.
    • Autosomal recessive inheritance is the likely mode of transmission for this condition within the studied family.

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