The value of conjunctival biopsy in childhood cystinosis.
Cystinosis is frequently presented with cystine storage in the cornea and conjunctiva, and the diagnosis can be established by slit-lamp examination. It can also be confirmed by electron microscopy of a conjunctival biopsy. The present paper reports on a 16-month-old boy with Fanconi's syndrome, in whom the slit-lamp examination did not show crystal deposits of cystine in the conjunctiva. The ultrastructural study of the conjunctival biopsy demonstrated polygonal crystals within double membrane-limited organelles located in fibroblasts. Similar crystals were subsequently found in a kidney biopsy. We therefore think that conjunctival biopsy is a valuable diagnostic tool prior to performing renal biopsy, even in cases with negative findings by ophthalmologic examination.
Cruz-Sánchez
F F
FF
Institute of Neuropathology, Free University of Berlin, Federal Republic of Germany.
Cervós-Navarro
J
J
Rodríguez-Prados
S
S
Lennert
T
T
D003228:Conjunctiva / Q000473:pathology*; D003554:Cystinosis / Q000473:pathology* / Q000628:therapy; D005198:Fanconi Syndrome / Q000150:complications / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron