Microphthalmia is a congenital disorder that results in one or both eyeballs being abnormally small. It is characterized by a shortened axial length (in the range of 14 to 20 mm) that causes extreme hyperopia (+7.5 to +21 D). Other ocular features include normal anterior segments, elevated papillomacular retinal folds, steep corneal curvatures, shallow anterior chambers and thickened scleral walls. The disorder results in mild to moderate vision loss. Several genetically distinct forms of isolated microphthalmia have been reported. MCOP6 is a specific form of microphthalmia caused by mutations in the PRSS56 gene.
Diagnosis can be made in-utero based on scans and genetic tests while postnatal diagnosis is made based on ocular examinations. Microphthalmia results in mildly to moderately reduced visual acuity. Hence treatment is focused on improving vision with corrective lenses. Children may require conformers, which are plastic structures that help the eye socket and facial bones develop properly. Patching of the better eye has also been found to improve vision in the weak eye. Surgical intervention may be required in certain cases, such as in the development of cataracts.