MICROPHTHALMOS

Microphthalmos refers to a decreased size of the eyeballs.

• Sporadic or hereditary.
• Sporadic cases may be secondary to exogenous factors e.g. infections such as rubella or syphilis.
• All patterns or mendelian inheritance have been reported (1,2).
• Affected eyes have very poor vision or are blind due to marked disorganization of the one or more parts of the globe.

ULTRASOUND

1. Has been diagnosed as early as 11 weeks GA (3).
2. Unilateral or bilateral.
3. Small orbital diameter when compared with accepted orbital nomograms or orbital growth (below 5th percentile, however some normal fetuses will fall within this range).
4. Isolated or have other associated anomalies.

ASSOCIATED ANOMALIES

1. Cataracts, corneal scarring, vascularity colobomas or the iris or choroid.
2. Microtia, micrognathia, median cleft.
3. Syndactyly, camptodactyly, rocker bottom feet, club feet.
4. Hemivertebrae.
5. Congenital heart defects.

ASSOCIATED CONDITIONS AND SYNDROMES

Link to Associated Conditions And Syndromes

REFERENCES

1. Zeiter HJ. Congenital microphthalmus. Am J Ophthalmol 1963;55:910-922.
2. Warburg M. Genetics of microphthalmos. Int Ophthalmol 1981;4:45-65.
3. Porges Y, Gershoni-Baruch R, Leibu R et.al. Hereditary microphthalmia with colobomatous cyst. Am J Ophthalmol 1992;114:30-34.