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Published on: September 20, 2018

Best's Disease in a 20-Month-Old Child

Jaclyn L Kovach, Stephen G Schwartz, Marcela Hickey

    Journal of Pediatric Ophthalmology and Strabismus
    |September 17, 2010
    PubMed

    Insights

    Researchers diagnosed a 20-month-old with Best disease, an inherited macular disorder. This case represents the youngest documented diagnosis of this genetic eye condition.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Medical Diagnostics

    Background:

    • Best disease is an autosomal dominant genetic disorder affecting the macula.
    • It is characterized by progressive, bilateral vitelliform macular lesions.
    • The condition's onset and progression can vary significantly among individuals.

    Purpose of the Study:

    • To report the youngest documented case of Best disease.
    • To highlight the early diagnosis of hereditary Best disease in a pediatric patient.
    • To emphasize the utility of photographic documentation in early diagnosis.

    Main Methods:

    • Clinical examination of a 20-month-old child presenting with symptoms suggestive of macular disease.
    • Genetic assessment to confirm autosomal dominant inheritance.
    • Ophthalmic imaging, likely including fundus photography, to document vitelliform macular lesions.

    Main Results:

    • A 20-month-old child was diagnosed with hereditary Best disease.
    • The diagnosis was confirmed through photographic documentation of characteristic macular lesions.
    • The patient inherited the condition from his father.

    Conclusions:

    • Early diagnosis of Best disease is possible, even in very young children.
    • Photographic documentation is a crucial tool for diagnosing Best disease.
    • This case expands the understanding of the earliest presentations of this genetic macular disorder.

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