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Cystinosis: 4 y.o. girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency.

Andrew Doan, MD, PhD, Andrew Lee, MD

February 21, 2005

CC: 4 y.o. girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency.

HPI: Child has always been in the lower 1/3 percentile for growth and development. Parents have noted child becoming increasingly photophobic. Child was recently admitted for "severe illness" and was diagnosed with renal insufficiency.

PMH/POH: No previous ocular or health problems.

Exam:

• Vision 20/80 OU with line pictures.
• IOP 16 mmHg OU
• EOM Full OU
• DFE normal OU
• SLE notable for crystalline stromal deposits in the cornea from limbus to limbus OU.

Dx: Cystinosis

EPIDEMIOLOGY Rare autosomal recessive disease, linked to chromosome 17p13. Incidence: 1:200k-300K live births Defect in cysteine transporter Cysteine collects in lysosomes	SIGNS crystalline corneal deposits are limbus to limbus Cysteine deposits in multiple tissues including: kidneys, cornea, liver, and brain.
SYMPTOMS photophobia pulmonary problems blepharospasm hypothyroidism decreased vision failure to thrive renal failure headaches associated with Fanconi syndrome mental retardation	TREATMENT Treat with oral and eye drops of Cystagon (Cysteamine).

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