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Results 1 - 8 of 8 for "Cone-rod" dystrophy 17
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 16 Genetic Testing Registry: Cone-rod dystrophy 17 Genetic Testing Registry: Cone-rod dystrophy 18 Genetic ... DYSTROPHY 21; CORD21 CONE-ROD DYSTROPHY 19; CORD19 CONE-ROD DYSTROPHY 17; CORD17 CONE-ROD DYSTROPHY 12; CORD12 PubMed Boulanger- ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Usher syndrome 
    ... have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance. Usher syndrome affects around 4 to 17 in 100,000 people. Types I and II ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  3. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  4. Bardet-Biedl syndrome 
    ... Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  5. Mitochondrial complex V deficiency 
    ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  6. Saul-Wilson syndrome 
    ... the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ... processing, and sorting. FEBS Lett. 2019 Sep;593(17):2466-2487. doi: 10.1002/1873-3468.13570. ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
  7. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ... Sinaasappel M. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  8. CLN11 disease 
    ... time and is due to a condition called retinitis pigmentosa, which is caused by the breakdown of the ... j.ajhg.2012.04.021. Epub 2012 May 17. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics