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Retinitis pigmentosa without pigment.

J T Pearlman, T P Flood, S R Seiff

    American Journal of Ophthalmology
    |April 1, 1976
    PubMed
    Summary

    The nonpigmented form of retinitis pigmentosa occurs in 22% of cases and is often an early disease stage. Patients without pigment changes may show less functional impairment, suggesting early diagnosis is crucial.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Retinitis pigmentosa (RP) is a group of inherited retinal diseases.
    • RP is typically characterized by pigmentary deposits in the retina.
    • The nonpigmented form of RP is less understood.

    Purpose of the Study:

    • To determine the incidence of the nonpigmented form of retinitis pigmentosa.
    • To characterize the clinical and functional features of nonpigmented RP.
    • To assess the relationship between pigmentation and disease severity.

    Main Methods:

    • Retrospective study of 68 consecutive retinitis pigmentosa patients.
    • Clinical examination including funduscopy.
    • Night vision testing (dark adaptation).
    • Electroretinography (ERG).

    Main Results:

    • Overall incidence of nonpigmented RP was 22%.
    • 50% of RP cases lacked pigment if night vision loss was ≤3 years.
    • Nonpigmented RP patients had less functional impairment (recordable ERG b-wave, less elevated rod threshold).

    Conclusions:

    • The nonpigmented form of RP is a frequent early stage, not an atypical variant.
    • Absence of pigmentary changes suggests less severe functional impairment in early RP.
    • Clinicians should consider RP in patients with suggestive symptoms (night blindness, visual field loss) and family history, even without pigmentary findings.

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