Cystinosis:
4-year-old girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency
February 21, 2005
Chief Complaint: 4-year-old girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency.
History of Present Illness: 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.
Diagnosis: Cystinosis
EPIDEMIOLOGY
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SIGNS
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SYMPTOMS
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TREATMENT
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Differential Diagnoses of crystaline corneal deposits
- Schnyder Corneal Dystrophy
- Chrysiasis (gold deposits)
- monoclonal gammopathy
- gout
- Infectious crystalline keratopathy
Suggested citation format: Doan A, Lee A. Cystinosis: 4-year-old girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency. EyeRounds.org. February 21, 2005; Available from: http://www.EyeRounds.org/cases/case4.htm