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    Am J Ophthalmol. 2003 Sep;136(3):572-4.

    A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.

    Yamamoto H, Yakushijin K, Kusuhara S, Escaño MF, Nagai A, Negi A.

    Source

    Departments of Organ Therapeutics, Division of Ophthalmology, Kobe University Graduate School of Medicine, Japan. hyamamot@med.kobe-u.ac.jp

    Abstract

    PURPOSE:

    To report a novel homozygous RDH5 gene mutation in a 76-year-old fundus albipunctatus who developed macular atrophy with the disappearance of white dots.

    DESIGN:

    Observational case report.

    METHODS:

    Direct genomic sequencing for RDH5 mutations was done after complete ophthalmic examination.

    RESULTS:

    Fundoscopy revealed only macular atrophy with notable absence of white dots. A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected.

    CONCLUSIONS:

    This is the first reported long-term case of fundus albipunctatus demonstrating macular atrophy with fading of the typical white dots. Gene studies may be the only method for distinguishing fundus albipunctatus from other types of macular atrophy in the elderly.

    PMID:
    12967826
    [PubMed - indexed for MEDLINE]

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