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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 2

Retinitis pigmentosa 2

Synonyms
Retinitis pigmentosa 2, X linked

Summary

Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2, RP2
    Summary: RP2 activator of ARL3 GTPase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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