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Related Experiment Videos

Fundus flavimaculatus: polymorphic retinal change in siblings.

Y Isashiki, N Ohba

    The British Journal of Ophthalmology
    |July 1, 1985
    PubMed
    Summary

    Siblings with fundus flavimaculatus displayed varied symptoms, showing polymorphic expressivity of this retinal dystrophy. One sibling had macular changes, while the other showed flecks throughout the fundus.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Bilateral retinal dystrophy characterized by gradual vision loss.
    • Fundus flavimaculatus is a rare genetic disorder affecting the retina.

    Observation:

    • Two siblings, a 12-year-old boy and an 11-year-old girl, from a consanguineous family presented with progressive vision loss.
    • The brother exhibited bull's eye maculopathy and sparse fundus flavimaculatus flecks.
    • The sister presented with numerous fundus flavimaculatus flecks but minimal macular involvement.

    Findings:

    • The siblings demonstrated significant variability in the clinical presentation of fundus flavimaculatus.
    • This case highlights the polymorphic expressivity of fundus flavimaculatus within the same family.

    Implications:

    • Understanding the variable expressivity of fundus flavimaculatus is crucial for accurate diagnosis and genetic counseling.
    • Further research into the genetic factors influencing fundus flavimaculatus expression may improve patient outcomes.

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