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  • Title: Crystalline cataract and uncombable hair. Ultrastructural and biochemical findings.
    Author: de Jong PT, Bleeker-Wagemakers EM, Vrensen GF, Broekhuyse RM, Peereboom-Wynia JD, Delleman JW.
    Journal: Ophthalmology; 1990 Sep; 97(9):1181-7. PubMed ID: 2234851.
    Abstract:
    A 7-year-old girl was found to have a progressive axial crystalline cataract located in the embryonal, fetal, and infantile nucleus. She also had the unknown association of crystalline cataract with uncombable hair. Samples of the aspirate after extracapsular cataract extraction (ECCE) showed elongated, trigonal crystals on scanning electron microscopy. On transmission electron microscopy, the crystals were surrounded by a membrane sometimes consisting of up to 30 concentric layers. The crystals were found to contain carbon, oxygen, nitrogen, sulfur, and disulfide bonds. The findings suggest that a major constituent of the crystals was a sulfur-containing aminoacid, probably cystine. Protein analysis of the remaining lens material showed elevated alpha-, beta 2-, and gamma 2- crystallin levels. Analysis of the hair root status showed hair loss in the resting phase of the hair cycle with abnormal sheathing in most hairs that were in the growth phase.
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