[A presumed case of "adolescent" cystinosis].
A 30-year-old female patient was presumed to have adolescent cystinosis because of the onset of glomerular nephritis in her twenties, and the absence of retardation of somatic growth, rickets, or retinopathy. Specular microscopy revealed fine needle-shaped and/or rectangular crystals in the corneal stroma. The crystals were birefringent hexagonal and/or rectangular in the conjunctival tissue. The cystine contents of conjunctival biopsies in the patient were 8.6-11.0 nmol/ml (assayed by high performance liquid chromatography.
Nakano
H
H
Department of Ophthalmology, University of Tsukuba, Japan.
Yamakura
Y
Y
Aoyagi
K
K
D000328:Adult; D002851:Chromatography, High Pressure Liquid; D002908:Chronic Disease; D003228:Conjunctiva / Q000378:metabolism / Q000473:pathology; D003460:Crystallization; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D005921:Glomerulonephritis / Q000150:complications; D006801:Humans
D003553:Cystine