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 - 6 of 6 for Coloboma of optic nerve
  1. PAX6 gene 
    ... isoform b PAX6_HUMAN Tests of PAX6 PubMed COLOBOMA OF OPTIC NERVE MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  2. PAX2 gene 
    ... on PubMed Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003 Dec;24(4):191- ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  3. OTX2 gene 
    ... information from the eyes to the brain (optic nerves). The OTX2 protein is also involved in brain ... About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  4. SALL4 gene 
    ... may also be important for the development of nerves that control eye movement and for the formation of the walls ( ... in the amount of the SALL4 protein disrupts eye, heart, and limb development in people with ... Coloboma More About This Health Condition A least one ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  5. CHD7 gene 
    ... parts of the body before birth, including the eye, the inner ear, and the brain. In the brain, the CHD7 protein is active in several areas, including a bundle of nerve cells (neurons) called the olfactory bulb that is ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  6. GRIP1 gene 
    ... targets necessary proteins to the junctions (synapses) between nerve cells (neurons) in ... is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion ...
    https://medlineplus.gov/genetics/gene/grip1 - Genetics