Retinitis Pigmentosa 84 (RP84)

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OMIM 56 618220 OMIM Phenotypic Series 56 PS268000 MeSH 43 D012174

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

UniProtKB/Swiss-Prot : ⁷³ 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). Related phenotypes are cataract and macular coloboma

OMIM : ⁵⁶ 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)

Clinical features from OMIM:

618220

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 84

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