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Results 1 - 10 of 177 for Optic nerve hypoplasia
  1. Septo-optic dysplasia 
    ... brain, and pituitary hypoplasia.The first major feature, optic nerve hypoplasia, is the underdevelopment of the optic nerves, which ... and the brain. As a result, people with optic nerve hypoplasia have impaired vision in one or both eyes. ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  2. 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
  3. Kaufman oculocerebrofacial syndrome 
    ... carry signals between the eyes and the brain (optic nerve hypoplasia). Eyes that do not look in the same direction ( ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  4. 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 ... Kawase E, Yamada M. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003 Jun; ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  5. CASK-related intellectual disability 
    ... carry information from the eyes to the brain (optic nerve hypoplasia), breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do not look in ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  6. SRD5A3-congenital disorder of glycosylation 
    ... carry signals between the eyes and the brain (optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma). ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  7. NGLY1-congenital disorder of deglycosylation 
    ... problems with liver function. Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  8. 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
  9. Ocular albinism 
    ... to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  10. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... hole in one of the structures of the eye (coloboma), underdevelopment (hypoplasia) or breakdown (atrophy) of the nerves that carry information from the eyes to the ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
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