4-year-old girl with failure to thrive, severe photophobia, and newly diagnosed renal insufficiency
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:
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.
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
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
University of Iowa
Roy J. and Lucille A. Carver College of Medicine
Department of Ophthalmology and Visual Sciences
200 Hawkins Drive
Iowa City, IA 52242
University of Iowa
Roy J. and Lucille A. Carver College of Medicine
Department of Ophthalmology and Visual Sciences
200 Hawkins Drive
Iowa City, IA 52242
