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Results 1 - 10 of 20 for Coloboma of optic nerve
  1. Renal coloboma syndrome 
    ... each cell is sufficient to cause the disorder. Coloboma of optic nerve with renal disease Coloboma-ureteral-renal syndrome ONCR Optic coloboma, vesicoureteral reflux, and renal anomalies Optic nerve coloboma renal syndrome Papillorenal syndrome RCS Renal-coloboma syndrome ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  2. 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
  3. Aicardi syndrome 
    ... developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  4. Coloboma 
    ... specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss ... not result in significant vision loss.People with coloboma may also have ... nerve, vision problems such as nearsightedness (myopia), involuntary back- ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  5. SRD5A3-congenital disorder of glycosylation 
    ... hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain (optic nerve hypoplasia), or vision ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  6. Kaufman oculocerebrofacial syndrome 
    ... pieces of tissue in structures that form the eye (coloboma); or underdevelopment of the nerves that carry signals between the eyes and the brain (optic nerve hypoplasia). Eyes that ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  7. 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
  8. Microphthalmia 
    ... retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  9. Focal dermal hypoplasia 
    ... nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
  10. 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
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