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GTR Home > Conditions/Phenotypes > Benign concentric annular macular dystrophy

Benign concentric annular macular dystrophy

Synonyms
Macular dystrophy, concentric annular
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Retinitis pigmentosa-91 (R91) is characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy (Olivier et al., 2021). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GP147, IPM150, RP91, SPACR, VMD4, IMPG1
    Summary: interphotoreceptor matrix proteoglycan 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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