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Syndromic microphthalmia

MedGen UID:
1826052
•Concept ID:
C5679782
•
Congenital Abnormality
Synonym: Syndromic microphthalmia-anophthalmia-coloboma
 
Monarch Initiative: MONDO:0016073
OMIM® Phenotypic series: PS309800
Orphanet: ORPHA202948

Definition

A microphthalmia that is part of a larger syndrome. [from MONDO]

Professional guidelines

PubMed

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M
Eur J Hum Genet 2017 Apr;25(4) Epub 2017 Jan 18 doi: 10.1038/ejhg.2016.201. PMID: 28098148Free PMC Article

Recent clinical studies

Etiology

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
Taylor RL, Soriano CS, Williams S, Dzulova D, Ashworth J, Hall G, Gale T, Lloyd IC, Inglehearn CF, Toomes C, Douzgou S, Black GC
Orphanet J Rare Dis 2022 Mar 4;17(1):110. doi: 10.1186/s13023-022-02239-3. PMID: 35246174Free PMC Article

Diagnosis

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
Zhou Y, Xu K, Gu W, Huang Y
Mol Genet Genomic Med 2022 Jun;10(6):e1948. Epub 2022 Apr 9 doi: 10.1002/mgg3.1948. PMID: 35397152Free PMC Article
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
Taylor RL, Soriano CS, Williams S, Dzulova D, Ashworth J, Hall G, Gale T, Lloyd IC, Inglehearn CF, Toomes C, Douzgou S, Black GC
Orphanet J Rare Dis 2022 Mar 4;17(1):110. doi: 10.1186/s13023-022-02239-3. PMID: 35246174Free PMC Article
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.
Eintracht J, Corton M, FitzPatrick D, Moosajee M
Eur J Hum Genet 2020 May;28(5):679-690. Epub 2020 Jan 2 doi: 10.1038/s41431-019-0565-4. PMID: 31896778Free PMC Article
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D
Eur J Hum Genet 2019 Sep;27(9):1379-1388. Epub 2019 May 3 doi: 10.1038/s41431-019-0423-4. PMID: 31053785Free PMC Article
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C
Am J Med Genet A 2018 Dec;176(12):2872-2876. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40640. PMID: 30450806

Prognosis

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR
Nat Genet 2000 Aug;25(4):397-401. doi: 10.1038/78071. PMID: 10932181

Clinical prediction guides

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.
Batkova M, Havlovicova M, Nocar A, Dudakova L, Macek M, Liskova P, Dostalova T
BMC Oral Health 2024 Oct 22;24(1):1264. doi: 10.1186/s12903-024-05005-y. PMID: 39438869Free PMC Article
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G
Hum Mutat 2021 May;42(5):506-519. Epub 2021 Apr 1 doi: 10.1002/humu.24179. PMID: 33565183
Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV
Clin Genet 2013 Nov;84(5):473-81. Epub 2013 Jun 17 doi: 10.1111/cge.12202. PMID: 23701296Free PMC Article
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Ng D, Hadley DW, Tifft CJ, Biesecker LG
Am J Med Genet 2002 Jul 15;110(4):308-14. doi: 10.1002/ajmg.10484. PMID: 12116202

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