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Hypoplastic optic chiasm

MedGen UID:
767486
Concept ID:
C3554572
Finding
Synonyms: Hypoplasia of the optic chiasm; Optic chiasm hypoplasia
 
HPO: HP:0034311

Definition

Developmental defect characterized by undergrowth of the optic chiasm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic optic chiasm

Conditions with this feature

Abortive cerebellar ataxia
MedGen UID:
66358
Concept ID:
C0221061
Disease or Syndrome
'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.
Isolated microphthalmia 8
MedGen UID:
767438
Concept ID:
C3554524
Disease or Syndrome
Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
MedGen UID:
1798652
Concept ID:
C5567229
Disease or Syndrome
A rare genetic neurological disorder with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum.

Recent clinical studies

Etiology

Ward DJ, Connolly DJA, Griffiths PD
Clin Radiol 2021 Feb;76(2):160.e1-160.e14. Epub 2020 Oct 2 doi: 10.1016/j.crad.2020.09.007. PMID: 33019967
Ducic Y, Coimbra C
Laryngoscope 2011 Nov;121(11):2290-4. doi: 10.1002/lary.22333. PMID: 22020880
McMahon CL, Braddock SR
Teratology 2001 Aug;64(2):83-6. doi: 10.1002/tera.1049. PMID: 11460259
Kuhn MJ, Swenson LC, Youssef HT
Comput Med Imaging Graph 1993 Mar-Apr;17(2):137-47. doi: 10.1016/0895-6111(93)90056-s. PMID: 8518995

Diagnosis

Khandgave TP, Kulkarni VN, Muzumdar DV, Puthran N
Middle East Afr J Ophthalmol 2014 Jul-Sep;21(3):262-4. doi: 10.4103/0974-9233.134690. PMID: 25100913Free PMC Article
Thompson DA, Kriss A, Chong K, Harris C, Russell-Eggitt I, Shawkat F, Neville BG, Aclimandos W, Taylor DS
Ophthalmology 1999 Dec;106(12):2354-61. doi: 10.1016/S0161-6420(99)90539-0. PMID: 10599670
Lemyre E, Lemieux N, Décarie JC, Lambert M
Am J Med Genet 1998 May 1;77(2):162-5. PMID: 9605291
Slamovits TL, Kimball GP, Friberg TR, Curtin HD
J Clin Neuroophthalmol 1989 Sep;9(3):172-7. PMID: 2529276
Iivanainen M, Haltia M, Lydecken K
Dev Med Child Neurol 1977 Oct;19(5):663-8. doi: 10.1111/j.1469-8749.1977.tb08000.x. PMID: 913906

Therapy

McMahon CL, Braddock SR
Teratology 2001 Aug;64(2):83-6. doi: 10.1002/tera.1049. PMID: 11460259
Brodsky MC, Glasier CM, Pollock SC, Angtuago EJ
Arch Ophthalmol 1990 Nov;108(11):1562-7. doi: 10.1001/archopht.1990.01070130064032. PMID: 2244841

Prognosis

Tolmacheva E, Bolshakova AS, Shubina J, Rogacheva MS, Ekimov AN, Podurovskaya JL, Burov AA, Rebrikov DV, Bychenko VG, Trofimov DY, Sukhikh GT
BMC Med Genomics 2024 May 14;17(1):130. doi: 10.1186/s12920-024-01857-z. PMID: 38745205Free PMC Article
Brodsky MC, Glasier CM, Pollock SC, Angtuago EJ
Arch Ophthalmol 1990 Nov;108(11):1562-7. doi: 10.1001/archopht.1990.01070130064032. PMID: 2244841
Boynton JR, Pheasant TR, Levine MR
Can J Ophthalmol 1975 Oct;10(4):473-81. PMID: 1192268

Clinical prediction guides

Bault JP, Salomon LJ, Guibaud L, Achiron R
Ultrasound Obstet Gynecol 2011 May;37(5):570-5. doi: 10.1002/uog.8847. PMID: 20878682
Thompson DA, Kriss A, Chong K, Harris C, Russell-Eggitt I, Shawkat F, Neville BG, Aclimandos W, Taylor DS
Ophthalmology 1999 Dec;106(12):2354-61. doi: 10.1016/S0161-6420(99)90539-0. PMID: 10599670
Brodsky MC, Glasier CM, Pollock SC, Angtuago EJ
Arch Ophthalmol 1990 Nov;108(11):1562-7. doi: 10.1001/archopht.1990.01070130064032. PMID: 2244841

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