Retinitis Pigmentosa 69

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OMIM 57 615780 Disease Ontology 12 DOID:0110410 ICD10 33 H35.5 MedGen 42 C4014312 CN187047

MeSH 44 D012174 SNOMED-CT via HPO 69 258211005 28835009 1151008 267628004 more UMLS 73 C4014312

UniProtKB/Swiss-Prot : ⁷⁵ Retinitis pigmentosa 69: 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.

MalaCards based summary : Retinitis Pigmentosa 69, is also known as rp69. An important gene associated with Retinitis Pigmentosa 69 is KIZ (Kizuna Centrosomal Protein). Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and undetectable electroretinogram

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the KIZ gene on chromosome 20p11.

OMIM : ⁵⁷ Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (615780)

Clinical features from OMIM:

615780

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 69

Search GEO for disease gene expression data for Retinitis Pigmentosa 69.