Retinitis Pigmentosa 85 (RP85)

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Disease Ontology 12 DOID:0112142 OMIM® 57 618345 OMIM Phenotypic Series 57 PS268000

MeSH 44 D012174 MedGen 41 C5193041 CN258234 SNOMED-CT via HPO 68 13164000 258211005 28835009

UniProtKB/Swiss-Prot : ⁷³ Retinitis pigmentosa 85: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes.

MalaCards based summary : Retinitis Pigmentosa 85, is also known as rp85. An important gene associated with Retinitis Pigmentosa 85 is AHR (Aryl Hydrocarbon Receptor). Affiliated tissues include retina, and related phenotypes are reduced visual acuity and progressive night blindness

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.

More information from OMIM: 618345 PS268000

Clinical features from OMIM®:

618345 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 85

Search GEO for disease gene expression data for Retinitis Pigmentosa 85.