Revision as of 17:25, 9 August 2012 by WikiBot (talk | contribs) (Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +))
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search
ICD-10 Q11.2
ICD-9 743.1
DiseasesDB 29618
eMedicine oph/572 

WikiDoc Resources for Microphthalmia


Most recent articles on Microphthalmia

Most cited articles on Microphthalmia

Review articles on Microphthalmia

Articles on Microphthalmia in N Eng J Med, Lancet, BMJ


Powerpoint slides on Microphthalmia

Images of Microphthalmia

Photos of Microphthalmia

Podcasts & MP3s on Microphthalmia

Videos on Microphthalmia

Evidence Based Medicine

Cochrane Collaboration on Microphthalmia

Bandolier on Microphthalmia

TRIP on Microphthalmia

Clinical Trials

Ongoing Trials on Microphthalmia at Clinical Trials.gov

Trial results on Microphthalmia

Clinical Trials on Microphthalmia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Microphthalmia

NICE Guidance on Microphthalmia


FDA on Microphthalmia

CDC on Microphthalmia


Books on Microphthalmia


Microphthalmia in the news

Be alerted to news on Microphthalmia

News trends on Microphthalmia


Blogs on Microphthalmia


Definitions of Microphthalmia

Patient Resources / Community

Patient resources on Microphthalmia

Discussion groups on Microphthalmia

Patient Handouts on Microphthalmia

Directions to Hospitals Treating Microphthalmia

Risk calculators and risk factors for Microphthalmia

Healthcare Provider Resources

Symptoms of Microphthalmia

Causes & Risk Factors for Microphthalmia

Diagnostic studies for Microphthalmia

Treatment of Microphthalmia

Continuing Medical Education (CME)

CME Programs on Microphthalmia


Microphthalmia en Espanol

Microphthalmia en Francais


Microphthalmia in the Marketplace

Patents on Microphthalmia

Experimental / Informatics

List of terms related to Microphthalmia

Microphthalmia (or microphthalmos) means small eyes.


In mammals the failure of expression of a transcription factor, MITF (microphthalmia-associated transcription factor), in the pigmented retina prevents this structure from fully differentiating. This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid. Without this fluid, the eye fails to enlarge, thus the name microphthalmia.


The gene encoding the microphthalmia-associated transcription factor (Mitf) is a member of the basic helix-loop-helix-leucine zipper (bHLH-ZIP) family. Waardenburg syndrome type 2 (WS type 2) in humans is also a type of microphthalmia syndrome. Mutations in MITF gene are thought to be responsible for this syndrome. The human MITF gene is homologous to the mouse MITF gene (aka mouse mi or microphthalmia gene); mouse with mutations in this gene are hypopigmented in their fur. The identification of the genetics of WS type 2 owes a lot to observations of phenotypes of MITF mutant mice.

Microphthalmia in newborns is also associated with infections during pregnancy, particularly rubella and cytomegalovirus (CMV), and trisomy 13 ( Patau syndrome). In addition, microphthalmia may also be a result of Fetal alcohol syndrome.

External links

Template:Congenital malformations and deformations of eye, ear, face and neck it:Microftalmia

Template:WH Template:WS