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True anophthalmia

MedGen UID:
436469
•Concept ID:
C2675590
•
Finding
Synonym: Anophthalmia, true
 
HPO: HP:0011478

Definition

Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrue anophthalmia

Conditions with this feature

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.
See: Condition Record
Isolated microphthalmia 8

Recent clinical studies

Diagnosis

Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE
Eur J Med Genet 2019 Jul;62(7):103664. Epub 2019 May 5 doi: 10.1016/j.ejmg.2019.05.003. PMID: 31067494
A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg.
Kara F, Yesildaglar N, Tuncer RA, Semerci N, Onat N, Yilmazer YC, Sipahi T, Erkaya S
Prenat Diagn 2002 May;22(5):395-7. doi: 10.1002/pd.331. PMID: 12001194
Anophthalmia in the focal dermal hypoplasia syndrome.
Marcus DM, Shore JW, Albert DM
Arch Ophthalmol 1990 Jan;108(1):96-100. doi: 10.1001/archopht.1990.01070030102038. PMID: 2404489
A syndrome with true anophthalmia, hand-foot defects and mental retardation.
Pallotta R, Dallapiccola B
Ophthalmic Paediatr Genet 1984 Apr;4(1):19-23. doi: 10.3109/13816818409009889. PMID: 6544388
Classification of oblique facial clefts with microphthalmia.
Schlenker JD, Ricketson G, Lynch JB
Plast Reconstr Surg 1979 May;63(5):680-8. doi: 10.1097/00006534-197905000-00012. PMID: 432335

Prognosis

Ophthalmo-acromelic syndrome in a Turkish infant: case report.
Caksen H, Odabas D, Oner AF, Abuhandan M, Calebi V
East Afr Med J 2002 Jun;79(6):339-40. doi: 10.4314/eamj.v79i6.8856. PMID: 12643234
A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg.
Kara F, Yesildaglar N, Tuncer RA, Semerci N, Onat N, Yilmazer YC, Sipahi T, Erkaya S
Prenat Diagn 2002 May;22(5):395-7. doi: 10.1002/pd.331. PMID: 12001194

Clinical prediction guides

Anophthalmia in the focal dermal hypoplasia syndrome.
Marcus DM, Shore JW, Albert DM
Arch Ophthalmol 1990 Jan;108(1):96-100. doi: 10.1001/archopht.1990.01070030102038. PMID: 2404489
A syndrome with true anophthalmia, hand-foot defects and mental retardation.
Pallotta R, Dallapiccola B
Ophthalmic Paediatr Genet 1984 Apr;4(1):19-23. doi: 10.3109/13816818409009889. PMID: 6544388

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