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Article

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

Molecular vision - 5 Sept 2009

Zenteno Juan Carlos, Buentello-Volante Beatriz, Quiroz-González Miguel A, Quiroz-Reyes Miguel A

Abstract excerpt

PURPOSE: To report a new familial case of the recently described autosomal recessive syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen, which arises from compound heterozygosity for Membrane Frizzled-Related Protein (MFRP) mutations in a sibling pair of Mexican origin. METHODS: Ophthalmological assessment included slit-lamp and dilated fundus examination, applanation tonometry, fundus...

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Source

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Identifiers

PMID: 19753314
PMCID: PMC2742641

Genes

MFRP

Variants

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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