Microphthalmia essentially means small eyes. It is characterised by a small eye within a small orbit. It can be unilateral or bilateral. It is sometimes defined as a globe with a total axial length (TAL) that is at least two standard deviations below the mean for age.
Microphthalmia can have a complex aetiology and genetics.
Microphthalmia can either occur isolation in association or with numerous other conditions which include
- aneupliodic syndromic
- non aneupliodic syndromic
- non aneuploidic non syndromic
Assessment and detection of microphthalmia antenatally is difficult and is often inferred from a small size of the orbit. There may or may not be evidence of concurrent hypotelorism.
- 1. Wladimiroff JW, Eik-Nes S. Ultrasound in obstetrics and gynaecology. Elsevier Science Health Science div. (2009) ISBN:0444518290. Read it at Google Books - Find it at Amazon
- 2. Blazer S, Zimmer EZ, Mezer E et-al. Early and late onset fetal microphthalmia. Am. J. Obstet. Gynecol. 2006;194 (5): 1354-9. doi:10.1016/j.ajog.2005.11.010 - Pubmed citation
- 3. Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007;2 : 47. doi:10.1186/1750-1172-2-47 - Free text at pubmed - Pubmed citation
- 4. Rodeck CH, Whittle MJ. Fetal medicine, basic science and clinical practice. Elsevier Health Sciences. (2008) ISBN:0443104085. Read it at Google Books - Find it at Amazon
- 5. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 6. Merz E. Ultrasound in obstetrics and gynecology, Gynecology. Thieme Publishing Group. (2007) ISBN:3137544025. Read it at Google Books - Find it at Amazon
- 7. Nyberg DA, McGahan JP, Pretorius DH. Diagnostic imaging of fetal anomalies. Lippincott Williams & Wilkins. (2003) ISBN:0781732115. Read it at Google Books - Find it at Amazon