Macs syndrome

What is Macs syndrome?

Macs syndrome is a group of conditions that affect the development of the eyes, before birth. The name stands for Microphthalmia, Anophthalmia and Coloboma.

These conditions are rare and occur in several thousand children born worldwide every year.

What gene changes cause Macs syndrome?

Mutations in the RIN2 gene are responsible for the syndrome, and are inherited in an autosomal recessive fashion.

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.

What are the main symptoms of Macs syndrome?

Affected individuals with the syndrome may be born with small, underdeveloped eyes (microphthalmia). This may affect one or both of the eyes. As a result of this symptom some individuals are blind, while others may have some residual sight.

Anophthalmia: when an eye/eyes are completely missing, and the eye socket is empty.

Coloboma: refers to a gap in one of the eyes. Whether vision is affected by this symptom depends on where on the eye the cleft is.

Other symptoms associated with the MACS conditions include endocrine or heart issues, as well as behavior issues and intellectual disability.

How does someone get tested for Macs syndrome?

The initial testing for Macs syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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