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Optic nerve dysplasia

MedGen UID:
390938
Concept ID:
C2676026
Disease or Syndrome; Finding
HPO: HP:0001093

Definition

The presence of developmental dysplasia of the optic nerve. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOptic nerve dysplasia

Conditions with this feature

Cardio-facio-cutaneous syndrome
MedGen UID:
266149
Concept ID:
C1275081
Disease or Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.
Absence deformity of leg-cataract syndrome
MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.
Peroxisome biogenesis disorder 2A (Zellweger)
MedGen UID:
763187
Concept ID:
C3550273
Disease or Syndrome
The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.
Peroxisome biogenesis disorder 5A (Zellweger)
MedGen UID:
766854
Concept ID:
C3553940
Disease or Syndrome
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MedGen UID:
815372
Concept ID:
C3809042
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Spastic paraplegia, intellectual disability, nystagmus, and obesity
MedGen UID:
924883
Concept ID:
C4284592
Disease or Syndrome
Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).
Anterior segment dysgenesis 8
MedGen UID:
934589
Concept ID:
C4310622
Congenital Abnormality
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).

Professional guidelines

PubMed

Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138

Recent clinical studies

Etiology

Ma L, Li Y, Zhang H, Li L, Deng G, Xu J, Li D
J AAPOS 2023 Feb;27(1):34.e1-34.e4. Epub 2022 Dec 21 doi: 10.1016/j.jaapos.2022.11.011. PMID: 36563895
Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK
Eur J Med Genet 2018 Sep;61(9):483-488. Epub 2018 May 10 doi: 10.1016/j.ejmg.2018.05.010. PMID: 29753093
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article
Alexandrakis G, Peterseim MM, Wilson ME
J AAPOS 2002 Jun;6(3):163-7. doi: 10.1067/mpa.2002.122148. PMID: 12075292

Diagnosis

Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK
Eur J Med Genet 2018 Sep;61(9):483-488. Epub 2018 May 10 doi: 10.1016/j.ejmg.2018.05.010. PMID: 29753093
Schimmenti LA
Eur J Hum Genet 2011 Dec;19(12):1207-12. Epub 2011 Jun 8 doi: 10.1038/ejhg.2011.102. PMID: 21654726Free PMC Article
Tarabishy AB, Alexandrou TJ, Traboulsi EI
Surv Ophthalmol 2007 Nov-Dec;52(6):588-96. doi: 10.1016/j.survophthal.2007.08.016. PMID: 18029268
Schulz E, Jung H
Strabismus 2001 Mar;9(1):33-5. doi: 10.1076/stra.9.1.33.707. PMID: 11262699

Therapy

Schulz E, Jung H
Strabismus 2001 Mar;9(1):33-5. doi: 10.1076/stra.9.1.33.707. PMID: 11262699
Goldhammer Y, Smith JL
Arch Ophthalmol 1975 Feb;93(2):115-8. doi: 10.1001/archopht.1975.01010020121004. PMID: 1090290

Prognosis

Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article
Khan AO, Aldahmesh M
J AAPOS 2006 Jun;10(3):273-4. doi: 10.1016/j.jaapos.2006.02.002. PMID: 16814183
Auber AE, O'Hara M
Clin Imaging 1999 May-Jun;23(3):152-8. doi: 10.1016/s0899-7071(99)00118-7. PMID: 10506908
Elder MJ
Br J Ophthalmol 1994 May;78(5):332-4. doi: 10.1136/bjo.78.5.332. PMID: 8025062Free PMC Article
Thomas GH, Haslam RH, Batshaw ML, Capute AJ, Neidengard L, Ransom JL
Clin Genet 1975 Nov;8(5):376-82. doi: 10.1111/j.1399-0004.1975.tb01517.x. PMID: 1204235

Clinical prediction guides

Negrisolo S, Benetti E
Int J Mol Sci 2023 Feb 19;24(4) doi: 10.3390/ijms24044165. PMID: 36835576Free PMC Article
Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
Gabriel LA, Sachdeva R, Marcotty A, Rockwood EJ, Traboulsi EI
Arch Ophthalmol 2011 Jun;129(6):781-4. doi: 10.1001/archophthalmol.2011.113. PMID: 21670345
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article

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