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Published in 2017 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2016.5169
Abstract: An adolescent girl presented with decreased vision and mild nystagmus since childhood. Best-corrected visual acuity was 20/40 OD and 20/100 OS. She had a history of infantile cystinosis with resulting Fanconi syndrome and renal failure…
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Keywords:
nephopathic cystinosis;
cystinosis fanconi;
crystals nephopathic;
intraretinal crystals ... See more keywords