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Microphthalmia, isolated, with coloboma

MedGen UID:
444071
•Concept ID:
C2931500
•
Disease or Syndrome
Synonym: Colobomatous microphthalmia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0000170
OMIM® Phenotypic series: PS300345
Orphanet: ORPHA98938

Definition

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Microphthalmia, isolated, with coloboma

Professional guidelines

PubMed

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.
Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C
Ital J Pediatr 2025 Mar 5;51(1):65. doi: 10.1186/s13052-025-01882-3. PMID: 40038803Free PMC Article
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N
Prenat Diagn 2016 Jun;36(6):561-7. Epub 2016 May 12 doi: 10.1002/pd.4825. PMID: 27061523
Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group
Ophthalmology 2012 Feb;119(2):362-8. Epub 2011 Nov 4 doi: 10.1016/j.ophtha.2011.07.039. PMID: 22054996

Recent clinical studies

Diagnosis

Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA
Am J Med Genet A 2016 May;170A(5):1302-7. Epub 2016 Feb 3 doi: 10.1002/ajmg.a.37572. PMID: 26842768

Prognosis

Persistent craniopharyngeal canal, bilateral microphthalmia with colobomatous cysts, ectopic adenohypophysis with Rathke cleft cyst, and ectopic neurohypophysis: case report and review of the literature.
Akyel NG, Alımlı AG, Demirkan TH, Sivri M
Childs Nerv Syst 2018 Jul;34(7):1407-1410. Epub 2018 Feb 14 doi: 10.1007/s00381-018-3747-4. PMID: 29445918

Supplemental Content

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
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    • PMC Articles
      Related information in PubMed Central Links
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