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GTR Home > Conditions/Phenotypes > Persistent hyperplastic primary vitreous, autosomal recessive

Persistent hyperplastic primary vitreous, autosomal recessive

Synonyms
PERSISTENT FETAL VASCULATURE; Retinal nonattachment and falciform detachment; Retinal nonattachment, nonsyndromic congenital

Summary

Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012). PHPV shares phenotypic overlap with Norrie disease (310600). Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous A dominant form of PHPV has been described (PHPVAD; 611308). [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Math5, NCRNA, PHPVAR, RNANC, bHLHa13, ATOH7
    Summary: atonal bHLH transcription factor 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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