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Results 21 - 30 of 31 for "Cone-rod" dystrophy 5
  1. Refsum disease 
    ... disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive ... the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  2. RPE65 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition all-trans-retinyl- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  3. 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
  4. Abetalipoproteinemia 
    ... condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ... cause vision loss. In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. People with ...
    https://medlineplus.gov/genetics/condition/abetalipoproteinemia - Genetics
  5. WDR19 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  6. CDH23 gene 
    ... to have DFNB12 have developed the vision disorder retinitis pigmentosa later in life, which is characteristic of Usher ... lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  7. Mitochondrial DNA 
    ... been found in people with neuropathy, ataxia, and retinitis pigmentosa (NARP). The MT-ATP6 gene provides instructions for ... dysfunction in hearing loss. Mitochondrion. 2004 Sep;4(5-6):675-94. doi: 10.1016/j.mito. ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  8. MT-ATP6 gene 
    ... but less severe, condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). A small number of mutations in the ... 14 new cases. Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  9. ALG6-congenital disorder of glycosylation 
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG ... glycosylation (CDG)-Ic. Hum Genet. 2000 May;106(5):538-45. doi: 10.1007/s004390000293. Citation on ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  10. Saul-Wilson syndrome 
    ... the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ... Saul-Wilson syndrome. Genet Med. 2020 May;22(5):857-866. doi: 10.1038/s41436-019-0737- ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
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