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Unilateral Optic Nerve Hypoplasia

MedGen UID:
768708
•Concept ID:
C3640068
•
Disease or Syndrome

Definition

A congenital abnormality characterized by the underdevelopment of one optic nerve. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral Optic Nerve Hypoplasia

Recent clinical studies

Etiology

Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia.
Abbasian J, Blair N, Shahidi M, Ying GS, Huang J, Kaufman L, Blair M
J AAPOS 2015 Feb;19(1):57-61. doi: 10.1016/j.jaapos.2014.10.025. PMID: 25727589Free PMC Article
Systemic and ocular findings in 100 patients with optic nerve hypoplasia.
Garcia ML, Ty EB, Taban M, David Rothner A, Rogers D, Traboulsi EI
J Child Neurol 2006 Nov;21(11):949-56. doi: 10.1177/08830738060210111701. PMID: 17092460
The clinical and morphologic spectrum of optic nerve hypoplasia.
Hellström A, Wiklund LM, Svensson E
J AAPOS 1999 Aug;3(4):212-20. doi: 10.1016/s1091-8531(99)70005-4. PMID: 10477223
Optic nerve hypoplasia: associations and management.
Roberts-Harry J, Green SH, Willshaw HE
Arch Dis Child 1990 Jan;65(1):103-6. doi: 10.1136/adc.65.1.103. PMID: 2301970Free PMC Article
Optic nerve hypoplasia in children. Association with anomalies of the endocrine and CNS.
Skarf B, Hoyt CS
Arch Ophthalmol 1984 Jan;102(1):62-7. doi: 10.1001/archopht.1984.01040030046032. PMID: 6703969

Diagnosis

Septo-optic dysplasia with amniotic band syndrome sequence: a case report.
Amiji IA, Mohamed UH, Rutashobya AG, Mngoya M, Schoenmann N, Naburi HE, Manji KP
J Med Case Rep 2019 Dec 16;13(1):370. doi: 10.1186/s13256-019-2306-2. PMID: 31839004Free PMC Article
Optical coherence tomographic findings in optic nerve hypoplasia.
Moon D, Park TK
Indian J Ophthalmol 2013 Oct;61(10):596-8. doi: 10.4103/0301-4738.121088. PMID: 24212314Free PMC Article
Macular thinning associated with unilateral optic nerve hypoplasia.
Hoang QV, Chau FY, Shahidi M, Miller MT, Blair MP
Ophthalmic Surg Lasers Imaging 2011 Feb 1;42 Online:e6-9. doi: 10.3928/15428877-20110125-08. PMID: 21323261Free PMC Article
Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant.
Pomeranz HD, Agadzi AK, Ekesten B
Acta Ophthalmol Scand 2006 Feb;84(1):140-4. doi: 10.1111/j.1600-0420.2005.00523.x. PMID: 16445455
The clinical and morphologic spectrum of optic nerve hypoplasia.
Hellström A, Wiklund LM, Svensson E
J AAPOS 1999 Aug;3(4):212-20. doi: 10.1016/s1091-8531(99)70005-4. PMID: 10477223

Prognosis

Septo-optic dysplasia with amniotic band syndrome sequence: a case report.
Amiji IA, Mohamed UH, Rutashobya AG, Mngoya M, Schoenmann N, Naburi HE, Manji KP
J Med Case Rep 2019 Dec 16;13(1):370. doi: 10.1186/s13256-019-2306-2. PMID: 31839004Free PMC Article
Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate.
Burnell L, Verchere C, Pugash D, Loock C, Robertson S, Lehman A
Arch Dis Child Fetal Neonatal Ed 2014 Jul;99(4):F286-90. Epub 2014 Mar 13 doi: 10.1136/archdischild-2013-305390. PMID: 24625434
The clinical and morphologic spectrum of optic nerve hypoplasia.
Hellström A, Wiklund LM, Svensson E
J AAPOS 1999 Aug;3(4):212-20. doi: 10.1016/s1091-8531(99)70005-4. PMID: 10477223
Optic nerve manifestations of human congenital cytomegalovirus infection.
Hittner HM, Desmond MM, Montgomery JR
Am J Ophthalmol 1976 May;81(5):661-5. doi: 10.1016/0002-9394(76)90134-3. PMID: 179325

Clinical prediction guides

Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia.
Abbasian J, Blair N, Shahidi M, Ying GS, Huang J, Kaufman L, Blair M
J AAPOS 2015 Feb;19(1):57-61. doi: 10.1016/j.jaapos.2014.10.025. PMID: 25727589Free PMC Article
Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant.
Pomeranz HD, Agadzi AK, Ekesten B
Acta Ophthalmol Scand 2006 Feb;84(1):140-4. doi: 10.1111/j.1600-0420.2005.00523.x. PMID: 16445455

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