Cone-Rod Dystrophy and Hearing Loss 2 (CRDHL2)

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OMIM 56 618358 OMIM Phenotypic Series 56 PS617236 MeSH 43 D054062

MedGen 41 C5193051 CN258248 SNOMED-CT via HPO 68 246622003 258211005 409668002 60700002 more

UniProtKB/Swiss-Prot : ⁷³ Cone-rod dystrophy and hearing loss 2: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy and Hearing Loss 2, is also known as crdhl2. An important gene associated with Cone-Rod Dystrophy and Hearing Loss 2 is CEP250 (Centrosomal Protein 250). Related phenotypes are sensorineural hearing impairment and photophobia

OMIM : ⁵⁶ Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018). For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236). (618358)

Clinical features from OMIM:

618358

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy and Hearing Loss 2

Search GEO for disease gene expression data for Cone-Rod Dystrophy and Hearing Loss 2.