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Article

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

Acta ophthalmologica - 1 May 2014

Wasmann Rosemarie A, Wassink-Ruiter Jolien S Klein, Sundin Olof H, Morales Elisa, Verheij Joke B G M, Pott Jan Willem R

Abstract excerpt

PURPOSE: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, with nanophthalmos and macular folds. METHODS: Ophthalmological examination, general paediatric examination and molecular genetic analysis of the MFRP gene were performed in both affected siblings. RESULTS: Clinical analysis showed high hyperopia (+11 D and +12 D), short axial lengths (15 mm) and the presence of macular...

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Source

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Identifiers

PMID: 23742260
DOI: 10.1111/aos.12105
PMCID: PMC3773268

Genes

MFRP
ERG
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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