Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl
September 1990
in “
Ophthalmology
”
Studysummary This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.
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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.
