Definition A congenital reduction in eye size, with the ocular bulb measuring 1⁄2 of the normal volume in extreme cases, due to abnormal development of the optic vesicle in the optic cup.
• Congenital–e.g., encephalo-ophthalmic dysplasia, focal dermal hypoplasia, Hallermann-Streiff syndrome, incontinentia pigmenti, Lenz microphthalmia (MO) syndrome, retinopathy of prematurity, trisomy 13-15
• Infectious–e.g., CMV, herpes, rubella, toxoplasmosis.
• Toxins–e.g., fetal alcohol syndrome
Incidence 14/105; 3-11% of all cases of blindness
The image shows a 4-year-old with MO of the right eye, microcephaly, and a bulbous nose due to a mutation of PQBP1, which encodes a nuclear polyglutamine-binding protein involved with transcription activation
Synonyms Microphthalmos, nanophthalmia, nanophthalmos
European J Human Genetics (2007) 15, 29–34.