Cataract - anterior polar, pyramidal

What is Cataract - anterior polar, pyramidal?

Cataract - anterior polar, pyramidal is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

These are unusual conical (pyramidal) opacities. They project into the anterior chamber from the anterior capsule of the lens (Wheeler et al., 1999). They are, according to these authors, a form of capsulolenticular cataract and are larger than the more common anterior polar cataract. They have been described in association with retinoblastomas, Ehlers-Danlos syndrome, aniridia and microphthalmia. Wheeler et al., (2000) report on 15 pediatric cases. Nine were bilateral. Fourteen out of 15 were sporadic, but one had a sibling with small, visually insignificant, dumbell-shaped excrescences, arising from the anterior capsule. The case reported by Al-Ghamdi and Al-Torbak (2004) was the offspring of first cousin parents. These authors reported a late phase (unilateral) case, which had progressed to a white hypermature cataract.

* This information is courtesy of the L M D.

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What gene changes cause Cataract - anterior polar, pyramidal?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


Sporadic - 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.


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:
N/A

What are the main symptoms of Cataract - anterior polar, pyramidal?

The typical symptoms of the syndrome are:
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How does someone get tested for Cataract - anterior polar, pyramidal?

The initial testing for Cataract - anterior polar, pyramidal 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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