Everything about Microphthalmia totally explained
Microphthalmia (or
microphthalmos) means small
eyes.
Presentation
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.
Causes
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.
Further Information
Get more info on 'Microphthalmia'.
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