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Unilateral microphthalmos

MedGen UID:
768664
Concept ID:
C3640024
Congenital Abnormality; Disease or Syndrome
Synonyms: Abnormally small eyeball on one side; Unilateral Microphthalmos; Unilateral nanophthalmos
 
HPO: HP:0011480

Definition

A developmental anomaly characterized by abnormal smallness of one eye. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Unilateral microphthalmos

Conditions with this feature

CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
17q11.2 microduplication syndrome
MedGen UID:
501218
Concept ID:
C3495679
Disease or Syndrome
Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.
Oculogastrointestinal-neurodevelopmental syndrome
MedGen UID:
1779113
Concept ID:
C5543355
Disease or Syndrome
Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021).

Recent clinical studies

Etiology

Schittkowski MP, Guthoff RF
Br J Ophthalmol 2010 Apr;94(4):487-93. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.163436. PMID: 19822908
Schittkowski MP, Guthoff RF
Br J Ophthalmol 2007 Dec;91(12):1624-6. Epub 2007 Jun 13 doi: 10.1136/bjo.2007.120121. PMID: 17567663Free PMC Article
Schittkowski MP, Guthoff RF
Br J Ophthalmol 2006 Sep;90(9):1173-7. Epub 2006 May 17 doi: 10.1136/bjo.2006.092478. PMID: 16707526Free PMC Article
Gossman MD, Mohay J, Roberts DM
Ophthalmology 1999 Oct;106(10):2005-9. doi: 10.1016/s0161-6420(99)90415-3. PMID: 10519599
Boniuk M, Hittner HM
Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol 1975 Nov-Dec;79(6):OP827-34. PMID: 813347

Diagnosis

Handley SE, Marmoy OR, Gore SK, Mankad K, Thompson DA
Doc Ophthalmol 2021 Apr;142(2):247-255. Epub 2020 Aug 27 doi: 10.1007/s10633-020-09788-7. PMID: 32852652Free PMC Article
Madan S, Chaudhuri Z
Ophthalmic Plast Reconstr Surg 2018 Jul/Aug;34(4):e110-e113. doi: 10.1097/IOP.0000000000001107. PMID: 29634607
Vasaiwala R, Sajja K, Setabutr P
Ophthalmic Plast Reconstr Surg 2011 Nov-Dec;27(6):e156-8. doi: 10.1097/IOP.0b013e318208319d. PMID: 21629142
Lieb W, Rochels R, Gronemeyer U
Br J Ophthalmol 1990 Jan;74(1):59-62. doi: 10.1136/bjo.74.1.59. PMID: 2306448Free PMC Article

Therapy

Vasaiwala R, Sajja K, Setabutr P
Ophthalmic Plast Reconstr Surg 2011 Nov-Dec;27(6):e156-8. doi: 10.1097/IOP.0b013e318208319d. PMID: 21629142
Schittkowski MP, Guthoff RF
Br J Ophthalmol 2007 Dec;91(12):1624-6. Epub 2007 Jun 13 doi: 10.1136/bjo.2007.120121. PMID: 17567663Free PMC Article

Prognosis

Schittkowski MP, Guthoff RF
Br J Ophthalmol 2010 Apr;94(4):487-93. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.163436. PMID: 19822908
Schittkowski MP, Guthoff RF
Br J Ophthalmol 2006 Sep;90(9):1173-7. Epub 2006 May 17 doi: 10.1136/bjo.2006.092478. PMID: 16707526Free PMC Article

Clinical prediction guides

Schittkowski MP, Guthoff RF
Br J Ophthalmol 2007 Dec;91(12):1624-6. Epub 2007 Jun 13 doi: 10.1136/bjo.2007.120121. PMID: 17567663Free PMC Article

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