Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl

    September 1990 in “ Ophthalmology ”
    P.T.V.M. de Jong, Elizabeth M. Bleeker-Wagemakers, Gijs F.J.M. Vrensen, R.M. Broekhuyse, J. D. R. Peereboom-Wynia, J. W. Delleman
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    TLDR The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
    In 1990, a study examined a 7-year-old girl with the rare conditions of progressive axial crystalline cataract and uncombable hair syndrome. The girl's cataract surgery revealed elongated, trigonal crystals in the lens, which were rich in cystine, and her hair exhibited typical features of uncombable hair syndrome. The lens crystals were found to have high levels of water-soluble crystallins, and the hair analysis showed abnormalities in the growth phase. Despite detailed analysis, the study did not establish a common cause for both conditions, and it remained unclear whether their co-occurrence was coincidental. The mother's eyes had tiny crystals, indicating a possible genetic link, but the exact inheritance pattern was uncertain. The pathogenesis of both conditions was unknown, and no association with other diseases was identified.
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