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Article

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

Ophthalmic genetics - 1 Jun 2003

Jensen Hanne, Kjaergaard Susanne, Klie Flemming, Moller H U

Abstract excerpt

PURPOSE: To present the ophthalmic manifestations of patients with congenital disorder of glycosylation type Ia (CDG-Ia) due to the frequent R141H/F119L PMM2 genotype. METHODS: Ophthalmic records of 23 patients (age: 10 months to 20 years) were evaluated. They had had at least one ophthalmic reexamination. RESULTS: Measurements of refractive error showed that 18 patients were myopic, two were hypermetropic, and...

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Source

Identifiers

PMID: 12789572
DOI: 10.1076/opge.24.2.81.13994

Genes

ERG
PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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