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Retinal functions in snowflake degeneration

T Hirose, E Wolf, C L Schepens

    Annals of Ophthalmology
    |October 1, 1980
    PubMed
    Summary
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    Snowflake degeneration affects retinal functions, particularly in later stages. Functional abnormalities are generally milder than in retinitis pigmentosa.

    Area of Science:

    • Ophthalmology
    • Retinal Degenerations
    • Electrophysiology

    Background:

    • Snowflake degeneration is a rare inherited retinal disorder.
    • Understanding its functional impact is crucial for patient management.

    Observation:

    • Studied 7 patients with snowflake degeneration, correlating retinal function with fundus appearance.
    • Assessed visual functions including glare sensitivity, perimetry, dark adaptation, and electroretinography (ERG).

    Findings:

    • Mild functional deficits noted, even with subtle fundus changes.
    • Peripheral visual field defects and abnormal dark adaptation were observed.
    • ERG showed reduced scotopic b-wave amplitude and altered responses to red light, indicating rod dysfunction.
    • Photopic responses were also reduced in some patients.

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  • Electrooculography (EOG) showed abnormalities in a few cases.

    • Implications:

    • Snowflake degeneration presents with milder functional retinal abnormalities compared to retinitis pigmentosa.
    • Early detection of functional changes is possible even with minimal ophthalmoscopic findings.
    • Flicker perimetry and ERG are valuable tools for detecting subtle retinal dysfunction.