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Article

[Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Jun 2004

Rudolph G, Kalpadakis P, Röschinger W, Haritoglou C, Kammerer S, Boergen K-P, Kampik A

Abstract excerpt

BACKGROUND: The Lowe oculo-cerebro-renal syndrome (OCRL1) is a rare X-linked disease which causes impairment of visual acuity. The situation may be further complicated by corneal alterations. PATIENTS AND METHODS: In total seven patients from different families were clinically examined by slit-lamp examination, funduscopy, measurement of the intraocular pressure and ultrasound sonography. Molecular genetic...

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Source

Identifiers

PMID: 15197575
DOI: 10.1007/s00347-003-0941-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].PMID 15197575Read ↗

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read ↗

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].Semantic proximity Read ↗

[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].Semantic proximity Read ↗

[A case report of genetic analysis in the OCRL1 gene in Lowe syndrome].Semantic proximity Read ↗

[Genetic diseases of the eye].Semantic proximity Read ↗

[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].Semantic proximity Read ↗

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read ↗

[Analysis of OCRL gene mutation in a male infant with Lowe syndrome].Semantic proximity Read ↗

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.Semantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.Semantic proximity Read ↗

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Semantic proximity Read ↗

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