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Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia. Syndromic microphthalmias are caused by mutations in genes related to embryonic craniofacial development, and they are typically classified based on their genetic cause.

Classification

If microphthalmia is present, genetic testing can be done to inform a specific diagnosis of a named syndrome. Twenty to forty percent of anophthalmia and microphthalmia patients are diagnosed with a recognized syndrome. There are 14 numbered syndromic microphthalmies (MCOPS) primarily defined by their ocular manifestations:

In addition to MCOPS1–14, there are many genetic syndromes of which microphthalmia is a key feature:

Notes

1. ^ AD: autosomal dominant; AR: autosomal recessive; XL: X-linked; XLD: X-linked dominant; XLR: X-linked recessive

References

1. ^ "Microphthalmia". MedlinePlus. US National Library of Medicine. Retrieved 2021-11-04.
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5. Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M; et al. (2019). "Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases". Eur J Hum Genet. 27 (9): 1379–1388. doi:10.1038/s41431-019-0423-4. PMC 6777538. PMID 31053785.{{cite journal}}: CS1 maint: multiple names: authors list (link)
6. van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D; et al. (2015). "Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome". Am J Hum Genet. 96 (4): 640–50. doi:10.1016/j.ajhg.2015.02.002. PMC 4385192. PMID 25772934.{{cite journal}}: CS1 maint: multiple names: authors list (link)
7. Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A; et al. (2002). "Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype". J Med Genet. 39 (12): 893–9. doi:10.1136/jmg.39.12.893. PMC 1757218. PMID 12471201.{{cite journal}}: CS1 maint: multiple names: authors list (link)
8. Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE; et al. (2011). "First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype". Hum Mutat. 32 (12): 1417–26. doi:10.1002/humu.21590. PMC 3918001. PMID 21901792.{{cite journal}}: CS1 maint: multiple names: authors list (link)

• Congenital disorders of eyes
• Rare diseases