Lignac-fanconi syndrome (fanconi-lignac syndrome; cystinosis syndrome; cystine storage-aminoaciduria-dwarfism syndrome; renal rickets; nephropathic cystinosis)

General: Autosomal recessively i 141h72b nherited storage disorder in which nonprotein cystine accumulates within cellular lysosomes; occurs primarily in children; prognosis in children with renal tubular insufficiency and dwarfism poor, with survival past age 10 years rare without renal transt.

Ocular: Cystine crystals located in conjunctiva, cornea, sclera, iris, ciliary body, lens, and perhaps choroid; general clouding of cornea caused by dense deposition of cystine crystals; pupillary block glaucoma; photophobia; band keratopathy; posterior synechiae with thickened stroma of iris; decreased visual function; patchy retinopathy; visual field constriction

Clinical: Fanconi syndrome with rickets; dwarfism; glomerular dystrophy; renal failure; oral motor dysfunction.

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