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Article

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Proceedings of the National Academy of Sciences of the United States of America - 5 Jul 2005

Sundin Olof H, Leppert Gregory S, Silva Eduardo D, Yang Jun-Ming, Dharmaraj Sharola, Maumenee Irene H, Santos Luisa Coutinho, Parsa Cameron F, Traboulsi Elias I, Broman Karl W, Dibernardo Cathy, Sunness Janet S, Toy Jeffrey, Weinberg Ethan M

Abstract excerpt

Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00 diopters. Because the cornea and lens are normal in size and shape, hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the...

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Identifiers

PMID: 15976030
DOI: 10.1073/pnas.0501451102
PMCID: PMC1172243

Genes

MFRP

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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