Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 16 for Hereditary eye diseases
  1. MT-ND5 gene 
    ... developed sudden, progressive vision loss characteristic of an eye disease called Leber hereditary optic neuropathy. A few individuals have been reported ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  2. MFN2 gene 
    ... include impaired vision. (This variant is also called hereditary motor and ... disease. Researchers suggest that mitochondria cannot fuse properly or ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  3. COL4A1 gene 
    ... the COL4A1 gene have been found to cause hereditary angiopathy with nephropathy, ... and eye abnormalities. Most of the identified COL4A1 gene mutations ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
  4. PLCG2 gene 
    ... activation of phospholipase C-gamma2 in the human hereditary disease PLAID. Cell Signal. 2016 Sep;28(9):1237- ...
    https://medlineplus.gov/genetics/gene/plcg2 - Genetics
  5. MT-ND4L gene 
    ... K, Kisiel B, Piechota J, Bartnik E. Leber hereditary optic neuropathy--a disease with a known molecular basis but a mysterious mechanism of pathology. J Appl Genet. 2003;44(4):529-38. Citation on PubMed Yu-Wai-Man P, Chinnery PF. Leber Hereditary Optic Neuropathy. 2000 Oct 26 [updated 2021 Mar ...
    https://medlineplus.gov/genetics/gene/mt-nd4l - Genetics
  6. WASHC5 gene 
    ... a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain. 2010 Oct;133(10):2920-41. doi: ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  7. MPZ gene 
    ... cells. People with type 2J Charcot-Marie-Tooth disease may also have hearing loss and abnormalities in the opening of the eye through which light passes (the pupil). It is ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  8. MT-ND6 gene 
    ... a.20456. Citation on PubMed Huoponen K. Leber hereditary optic ... D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in ...
    https://medlineplus.gov/genetics/gene/mt-nd6 - Genetics
  9. MT-ND4 gene 
    ... the nerve that relays visual information from the eye to the brain (the optic nerve). Additional genetic and environmental factors probably contribute to the vision loss and other medical problems associated with Leber hereditary optic neuropathy. More About This Health Condition A ...
    https://medlineplus.gov/genetics/gene/mt-nd4 - Genetics
  10. PAX6 gene 
    ... an absence of the colored part of the eye (the iris). Most of these mutations ... some disease-causing mutations occur in neighboring regions of DNA ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
previous · 1 · 2 · next