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Results 1 - 10 of 13 for "Cone-rod" dystrophy hearing loss 1
  1. ... characterized by the combination of vision loss and hearing loss beginning early in life. ... of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
  2. ... By middle age, most affected individuals have profound hearing loss. Vision loss ... genetic mutations resulting in type 1 Usher syndrome are more common among people of ...
  3. ... WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ...
  4. ... Usher syndrome type IIA, while other mutations cause retinitis pigmentosa without hearing loss. More About This Health Condition US2 USH2 USH2A_ ...
  5. ... some individuals who were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ...
  6. ... development and function of stereocilia, which leads to hearing loss and difficulty with balance and coordination. A lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
  7. ... 1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
  8. ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ ...
  9. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition USH3 USH3A USH3A_HUMAN Usher syndrome 3A Usher syndrome type 3 protein Tests of CLRN1 PubMed CLARIN 1; CLRN1 NCBI Gene ClinVar Adato A, Vreugde S, ...
  10. ... J Med Genet A. 2005 Feb 15;133A(1):71-7. doi: 10.1002/ajmg.a.30524. Citation on PubMed Bottger EC, Schacht J. The mitochondrion: a perpetrator of acquired hearing loss. Hear Res. 2013 Sep;303:12-9. doi: ...
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