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microphthalmia image from New Medical Terms


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 

References http://en.wikipedia.org/wiki/Microphthalmia

European J Human Genetics (2007) 15, 29–34.


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