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Stacey J. Kruger, MD; M. Edward Wilson, Jr, MD; Amy K. Hutchinson, MD; Mae Millicent Peterseim, MD; Luanna R. Bartholomew, PhD; Richard A. Saunders, MD

Arch Ophthalmol. 2003;121:1234-1237.

Background  Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules. Other ocular findings include glaucoma, corneal opacity (keloid), enophthalmos, and hypotonia.

Objective  To describe the treatment of 7 patients (14 eyes) with bilateral cataracts associated with oculocerebrorenal syndrome.

Method  Retrospective review.

Results  Seven patients with oculocerebrorenal syndrome had visually significant bilateral cataracts detected on their first full ophthalmic examination. All underwent bilateral cataract surgery. The mean age (of 14 eyes) at cataract extraction was 1.25 (median, 1.1) months. Glaucoma diagnosis and treatment were more variable. The mean age (of 11 eyes) at glaucoma diagnosis was 24.1 (range, 0.2-70.0) months: the mean age was 0.2 month (of 4 eyes) when glaucoma was diagnosed before cataract extraction, and the mean age was 37.7 months (of 7 eyes) when glaucoma was diagnosed after cataract extraction. All eyes were followed up for a mean of 100.8 (range, 38-190) months.

Main Outcome Measure  Treatment of 7 patients (14 eyes) with bilateral cataracts associated with oculocerebrorenal syndrome.

Conclusions  Early identification and surgical removal of cataracts is recommended in patients with oculocerebrorenal syndrome. Despite this, visual acuity results will only rarely be better than 20/70, and nystagmus is likely. Patients should be monitored closely and regularly for changes in intraocular pressure, optic nerve cupping, and refractive error to rule out the development of glaucoma.

From the Miles Center for Pediatric Ophthalmology, the Storm Eye Institute, and the Department of Ophthalmology, Medical University of South Carolina, Charleston. The authors have no relevant financial interest in this article.

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