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Results 1 - 10 of 41 for Optic nerve hypoplasia
  1. HESX1 gene 
    ... aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab. 2006 Nov;91(11): ... heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese ...
    https://medlineplus.gov/genetics/gene/hesx1 - Genetics
  2. PAX6 gene 
    ... ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE 6; PAX6 NCBI Gene ClinVar ... E, Yamada M. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003 Jun;72( ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  3. PAX2 gene 
    ... gene variants are also found in individuals with abnormalities of the optic nerve, which carries visual information from the eyes to the brain. These individuals do not have the kidney anomalies associated ... with eye abnormalities likely disrupt regulation of genes that help direct ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  4. MPZ gene 
    ... axons) that transmit impulses to muscles and other nerve 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
  5. OTX2 gene 
    ... and early development of the eyes, the optic nerves, the pituitary gland, and other brain structures. These problems with development lead to the major features of septo-optic dysplasia, including eye abnormalities, underdevelopment of the pituitary gland (pituitary hypoplasia), and ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  6. TUBB3 gene 
    ... can also be involved. Abnormal growth of cranial nerves impairs the function of ... that underlie intellectual disability and other neurological problems ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  7. DOCK6 gene 
    ... the development of fibers (axons) that extend from nerve cells. ... such as brain or eye malformations and intellectual disability, are more common in ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  8. CASK gene 
    ... another gene, FRMD7, to promote development of the nerves that control eye movement (the ... with pontine and cerebellar hypoplasia (MICPCH), and a milder form called X-linked ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  9. CRPPA gene 
    ... brain, it helps direct the movement (migration) of nerve cells (neurons) during early ... and abnormalities of the brain and eyes. Because of the severity of the problems caused ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  10. POMT2 gene 
    ... brain, it helps direct the movement (migration) of nerve cells (neurons) during early ... and abnormalities of the brain and eyes. Because of the severity of the problems caused ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
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