Microphthalmia 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. [1] This article refers to the sight organ. ... Orders Subclass Multituberculata (extinct) Plagiaulacida Cimolodonta Subclass Palaeoryctoides (extinct) Subclass Triconodonta (extinct) Subclass Eutheria (includes extinct ancestors)/Placentalia (excludes extinct ancestors) Afrosoricida Artiodactyla Carnivora Cetacea Chiroptera Cimolesta (extinct) Creodonta (extinct) Condylarthra (extinct) Dermoptera Desmostylia (extinct) Embrithopoda (extinct) Hyracoidea Insectivora Lagomorpha Litopterna (extinct) Macroscelidea Mesonychia (extinct) Notoungulata (extinct) Perissodactyla Pholidota Plesiadapiformes... Human eye cross-sectional view. ... Vitreous humour is the clear gel that fills the eyeball, lying between the lens and the retina in the eye. ...
The gene encoding the microphthalmia-associated transcription factor (Mitf) is a member of the basic helix-loophelix-leucine zipper (bHLH-ZIP) family. Waardenburg syndrome type 2 (WS type 2)in humans is also a type of microphthalmia syndrome. Mutation 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. In biology, mutations are changes to the genetic material (usually DNA or RNA). ... Feral mouse The mouse is a mammal that belongs to one of numerous species of small rodents in the genus Mus and various related genera of the family Muridæ (Old World Mice). ... The phenotype of an individual organism is either its total physical appearance and constitution or a specific manifestation of a trait, such as size or eye color, that varies between individuals. ...
Microphthalmia in newborns is also associated with infections during pregnancy, particularly rubella and cytomegalovirus (CMV). In addition, microphthalmia may also be a result of Fetal Alcohol Syndrome(FAS). A thin upper lip and a smooth philtrum are signs of FAS Fetal alcohol spectrum disorder is an umbrella term used to describe fetal alcohol syndrome (FAS) and the less noticeable, but sometimes equally serious, fetal alcohol effects (FAE). ...
Microphthalmia may be isolated (the only presenting sign) or associated with a range of ocular or systemic abnormalities.
Microphthalmia occurs due to autosomal recessive transmission and is part of a syndrome associated with abnormalities in the retina or systemic lesions.
Microphthalmia results from a developmental defect after formation of the optic vesicle.
This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid.
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(FAS).