Cataract 6, Multiple Types; CTRCT6

What is Cataract 6, Multiple Types; CTRCT6?

Cataract 6, Multiple Types; CTRCT6 is a rare disease. It is also known as Cataract, Age-related Cortical, 2; Arcc2 Cataract, Posterior Polar, 1; Ctpp1.

These cataracts, situated at the back of the lens, can have a marked effect on acuity. They are commonly age related, but are also seen in NF2 and can be simply dominantly inherited. A large family has been reported which maps to 1p near the telomere where the clinically distinct Volkmann congenital cataract also maps (Ionides et al., (1997).
There might be (clinically) two types of posterior polar cataract - one stationary and the other progressive. The former is rarer and was reported by Ionides et al., (1999).
A dominant family with posterior polar cataracts was reported by Takamura et al., (2003). One member had a morgagnian cataract - total liquification of the cortex, which allowed the nucleus to sink inferiorly.
Note too the Tasmanian family (McKay et al., 2005), that mapped to 1p. Mutations have not yet been reported

* This information is courtesy of the L M D.

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What gene changes cause Cataract 6, Multiple Types; CTRCT6?

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.

OMIM Number - 116600 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
EPHA2 - 1p36.13

What are the main symptoms of Cataract 6, Multiple Types; CTRCT6?

The typical symptoms of the syndrome are:
Developmental cataract, Autosomal dominant inheritance, Posterior polar cataract, Myopia, Choroideremia, Total cataract

How does someone get tested for Cataract 6, Multiple Types; CTRCT6?

The initial testing for Cataract 6, Multiple Types; CTRCT6 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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