Retinitis Pigmentosa 84 (RP84)

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Disease Ontology 12 DOID:0112141 OMIM® 57 618220 OMIM Phenotypic Series 57 PS268000

MeSH 44 D012174 MedGen 41 C4748725 CN257494 SNOMED-CT via HPO 68 128306009 193570009 238828009 247053007 258211005 28835009 more

UniProtKB/Swiss-Prot : ⁷² Retinitis pigmentosa 84: 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. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue.

MalaCards based summary : Retinitis Pigmentosa 84, is also known as rp84. An important gene associated with Retinitis Pigmentosa 84 is DHX38 (DEAH-Box Helicase 38). Affiliated tissues include eye, and related phenotypes are cataract and macular coloboma

Disease Ontology : ¹² A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has material basis in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2.

OMIM® : ⁵⁷ RP84 is an autosomal recessive, early-onset form of retinitis pigmentosa, with onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7. Some patients retain light perception (Ajmal et al., 2014; Latif et al., 2018). (618220) (Updated 20-May-2021)

Clinical features from OMIM®:

618220 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 84

Search GEO for disease gene expression data for Retinitis Pigmentosa 84.