Klinische Monatsblätter für Augenheilkunde
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Klin Monbl Augenheilkd · Sep 1980
Case Reports[Nephropathic and benign cystinosis (author's transl)].
Cystinosis is a rare, autosomally and recessively inherited disorder of amino-acid metabolism with ocular involvement. Four patients with this disease are reported on. The clinical signs of the first patient, who had nephropathic cystinosis, are compared with the signs and symptoms of the benign phenotype (benign cystinosis). ⋯ Crystals were also found in conjunctival sections from the third case. In the fourth case it proved impossible to demonstrate crystals clearly in either the bone marrow or in conjunctival sections. There was no evidence of any other cause of the corneal or conjunctival crystals.