J Korean Ophthalmol Soc.
2006 Sep;47(9):1502-1511.
Two Cases of Oculocerebrorenal Syndrome in Two Brothers Diagnosed after Congenital Cataract Surgery
- Affiliations
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- 1Department of Ophthalmology, Maryknoll Hospital, Pusan, Korea. wansookim@yahoo.com
- 2Department of Ophthalmology, St. Mary's Medical Center, Pusan, Korea.
Abstract
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PURPOSE: We report two cases of brothers diagnosed with oculocerebrorenal syndrome after binocular congenital cataract surgery.
METHODS
Two brothers who had undergone surgeries for congenital cataracts showed growth retardation, proteinuria, and generalized tonic seizures. The patients were referred to the pediatrics department and evaluated for systemic diseases and genetic counseling.
RESULTS
Two brothers had renal tubular dysfunction characterized by hypercalciuria and hyperphosphaturia. The older brother had multiple microcalcifications on both kidneys, and ischemic injury with general dysfunction of the brain. Genetic analysis of brothers and their mother showed a new mutation of P799L in the region of the chromosome Xq25-26.1 locus. The two brothers were diagnosed with oculocerebrorenal syndrome of Lowe (OCRL).
CONCLUSIONS
In cases of patients with congenital cataracts, the evaluation of systemic disease including genetic abnormality should be considered whenever systemic symptoms such as growth retardation, proteinuria or seizure are found.
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