Genetic etiology and clinical strategies of congenital anophthalmia and microphthalmia

Congenital anophthalmia and microphthalmia refer to the absence of eyeball and a significantly shortened axial length, respectively.Among them, simple microphthalmia only has a smaller eyeball volume than normal without other eye malformations.The prevalence of congenital anophthalmia and microphthalmia is 1.18/10 000 and the etiology of the diseases are dominated by genetic defects, with common causative genes including SOX2, OTX2, PAX6 and RAX.Recent research results have shown that genetic abnormalities of MAB21L1, EPHA2, VPS35L, FAT1 are also associated with the occurrence and development of the diseases.Advanced childbearing age, gestational diabetes and smoking during pregnancy are risk factors for the diseases.Congenital anophthalmia and microphthalmia can be diagnosed by ocular ultrasound or magnetic resonance imaging measurement of axial length and corneal diameter.At present, congenital anophthalmia and microphthalmia mainly focus on symptomatic treatment.The common complications of congenital anophthalmia and microphthalmia include hyperopia, glaucoma, orbital dysplasia, and uveal effusion.To provide new ideas for the diagnosis and treatment of congenital anophthalmia and microphthalmia, genetic etiology and treatment are reviewed in this article.

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