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Article

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

American journal of human genetics - 11 Mar 2011

Gal Andreas, Rau Isabella, El Matri Leila, Kreienkamp Hans-Jürgen, Fehr Susanne, Baklouti Karim, Chouchane Ibtissem, Li Yun, Rehbein Monika, Fuchs Josefine, Fledelius Hans C, Vilhelmsen Kaj, Schorderet Daniel F, Munier Francis L, Ostergaard Elsebet, Thompson Debra A, Rosenberg Thomas

Abstract excerpt

Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we...

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Identifiers

PMID: 21397065
DOI: 10.1016/j.ajhg.2011.02.006
PMCID: PMC3059417

Genes

PRSS56

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21397065-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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