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A novel mutation in the OCRL1 gene with severe genotype-phenotype correlation in a patient with Lowe syndrome

Poster Details

First Author: A.Gschlie├čer AUSTRIA

Co Author(s):    T. Neumayer   E. Moser   B. Kiss   O. Brandau   F. Laccone   E. Stifter

Abstract Details


The oculocerebrorenal syndrome (Lowe Syndrome) is a rare X-chromosomal recessive multi-systemic disease caused by variable mutations in the OCRL1 gene located in the chromosomal region Xq26.1. The disease affects male infants and is characterized by renal, cerebral and ocular pathologies with variable penetrance and severity. Bilateral congenital cataract is found in all affected patients. Other ocular findings like corneal opacities and infantile glaucoma can additionally occur depending on the genotype. We describe a novel mutation in the OCRL1 gene associated with severe ocular manifestation and poor visual outcome.


Medical University of Vienna, Austria; General Hospital of Vienna (AKH), Austria


We report on a male premature infant (26 weeks 5 days gestational age, 780 grams birth weight) diagnosed with a dense bilateral congenital cataract at birth. In synopsis with congenital hypotonia and renal tubulopathy a Lowe syndrome was clinically diagnosed and molecular genetically confirmed. The sequencing results of the OCRL gene showed a novel hemizygous mutation in exon 9 (c.737C>T) with consecutive amino acid exchange at the position 246 of the protein chain (p.Thr246Ile).


Bilateral congenital cataract was the cardinal symptom in this patient. Lensectomy combined with anterior vitrectomy was performed at six weeks of postnatal age. Within the first months of life the patient developed a bilateral progressive band keratopathy and an infantile glaucoma which demanded glaucoma surgery with bilateral trabeculotomy and trabeculectomy. Horizontal nystagmus and divergent strabismus were further ocular manifestations in this patient.


Male infants who carry the described novel mutation in the OCRL1 gene show a high degree of severity of ocular symptoms and need early and aggressive treatment. Cataract surgery should be performed rapidly. Measurement of the intraocular pressure in close intervals and early glaucoma surgery if necessary is recommended in these patients. FINANCIAL INTEREST: NONE

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