Paula and Bobby
Parents of Lillie
Anterior segment dysgenesis type Akpek
What is Anterior segment dysgenesis type Akpek?
Anterior segment dysgenesis type Akpek is a rare disease. It is also known as EDICT.
The affected members in the family reported by Akpek et al., (2002), had a congenital cataract and a variety of corneal problems including diffuse steepening, thinning and haze. The cornea was small and there was a posterior polymorphous dystrophy. The cornea of the proband showed striking endothelial abnormalities (Descemet's membrane was thick, nodular - especially the posterior banded portion) and stromal abnormalities (vacuoles contaning layered electron-dense material, both intracellular and extracellular). The abnormality in Descemet's membrane resembled that seen in Fuch's dystrophy, and the lipid deposits were similar to those seen in X-linked ichthyosis. There were secondary bullous changes of the epithelium. The proband had small, eccentric pupils.
This condition has now been mapped to 15q22.1-15q25 (Jun et al., 2002).
See also under 'keratoconus - cataract (AD) for something similar (Illif et al., 2012)
* This information is courtesy of the L M D.
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What gene changes cause Anterior segment dysgenesis type Akpek?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Anterior segment dysgenesis type Akpek?
The typical symptoms of the syndrome are:
How does someone get tested for Anterior segment dysgenesis type Akpek?
The initial testing for Anterior segment dysgenesis type Akpek can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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