Research status of congenital microphthalmos with orbital cyst

Congenital microphthalmia with orbital cyst (CMOC) is a severe ocular developmental malformation. This article aims to provide assistance for genetic counseling and further exploration of more effective treatments.

A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: “microphthalmos”, “microphthalmia”, “cyst”, “morbidity”, “congenital cystic eye”, “histopathological”, “molecular genetics”, “syndrome”, “treatment”, “therapy”, “surgery” and “surgical” etc. After the initial screening of these articles, repetitive literatures were excluded.

63 articles were selected. This article reviewed the research progress on the incidence of CMOC, its relationship with congenital microphthalmos and congenital cystic eye, histopathology and molecular genetics studies, particularly the syndromes associated with this condition and the current treatment status.

CMOC is essentially a disease caused by gene mutations, and there is no effective treatment that achieves consistent relief. Further research to clarify the genotype-phenotype and inheritance patterns of this disease may be a valuable research direction for exploring effective treatment methods and guiding clinical genetic counseling.