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Results 1 - 10 of 25 for Isolated optic nerve hypoplasia
  1. Coloboma 
    ... a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for ... National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  2. 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
  3. 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
  4. Duane-radial ray syndrome 
    ... Duane anomaly (also known as Duane syndrome). This abnormality results from the improper development of certain nerves that control eye movement. Duane anomaly limits outward eye movement (toward ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  5. Isolated Duane retraction syndrome 
    ... Duane-radial ray syndrome is characterized by this eye disorder and abnormalities of bones in the arms and hands.Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  6. Microphthalmia 
    ... genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in very small ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  7. Bosma arhinia microphthalmia syndrome 
    ... with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum In: Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. Citation on PubMed
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  8. Aniridia 
    ... information from the eyes to the brain (optic nerves) are underdeveloped. ... (foveal hypoplasia). Many of these eye problems contribute to progressive ...
    https://medlineplus.gov/genetics/condition/aniridia - Genetics
  9. FBN1 gene 
    ... In these cases, the diagnosis often changes from isolated ectopia lentis to ... tissue lead to heart and eye problems in people with this disorder. In addition, ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  10. TUBB2B gene 
    ... muscles) are particularly affected. Abnormal development of cranial nerves impairs the ... More About This Health Condition MedlinePlus ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
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