Paula and Bobby
Parents of Lillie
What is Alacrima, Congenital?
Alacrima, Congenital is a rare disease. It is also known as Alacrimia Congenita.
Bilateral hereditary alacrima due to hypoplasia of the lacrimal gland was described as an autosomal dominant trait by Mondino and Brown (1976). Rarely, apparently sporadic unilateral cases of congenital absence of lacrimal gland, may be associated with severe secondary corneal changes. Seven sporadic cases were reported by Uleckas et al., (1993). The absence of the gland was shown on CT scan.
There are other cases of congenital alacrima in which the lacrimal glands are present. A very inbred family with this was reported by Hegab and Al-Matwa (1996). The case with normal lacrimal glands, reported by Arya et al., (2004), had in addition the Pierre Robin sequence.
* This information is courtesy of the L M D.
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What gene changes cause Alacrima, Congenital?
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.
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 - 103420 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Alacrima, Congenital?
The typical symptoms of the syndrome are:
Alacrima, Lacrimal punctal atresia, Autosomal dominant inheritance, Photophobia, Punctate corneal epithelial erosions, Lacrimal gland hypoplasia
How does someone get tested for Alacrima, Congenital?
The initial testing for Alacrima, Congenital 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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