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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. *
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.
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).
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Franchesca's Microphthalmia Page - Franchesca is a teenager with anophthalmia. Here she, her mother, and a friend share their thoughts.
Meta Description: [ Franchesca is a teenager with anophthalmia, speech impairment, and developmental delays. She, her mother, and a family friend share her story and notes on her progress. ]
International Children's Anophthalmia Network (ICAN) - Parent support group for families with a child with anophthalmia or microphthalmia.
Meta Description: [ International Children's Anophthalmia Network ]
Micro and Anopthalmic Children's Society (MACS) - Provides support and information for parents and professionals with microphthalmia, anophthalmia, coloboma and related conditions.
Meta Description: [ Discovering your child is born with Anophthalmia, Microphthalmia or Coloboma can be a devastating experience. The group aims to offer emotional and practical support from parents who have been through similar experiences. ]
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Microptalmia - A True Story - Describes a case of Microphtalmia in the Netherlands.
National Eye Institute - Anophthalmia and Microphthalmia - Provides patient information about this rare eye disorder, including causes, treatment and additional resources.
Meta Description: [ Publication about anophthalmia and microphthalmia (small eye syndrome)., ]
Noeyes.com - Story and updates of a baby born without eyes.
