Cystinosis:

4-year-old girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency

Andrew Doan, MD, PhD, Andrew Lee, MD

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:

cystinosis

Diagnosis: 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)

Differential Diagnoses of crystaline corneal deposits

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