Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT)

Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT)

OMIM number: 615458

Comments closing date: 10/06/2024

‘Microcornea, myopic chorioretinal atrophy and
telecanthus’ (MMCAT) is a rare inherited (genetic)
disorder that affects eye development. It is caused
when a pregnancy inherits a mutation (also called
a “pathogenic variant”) in both copies of the
ADAMTS18 gene. The ADAMTS18 gene is
important for the development of the eye. When it
is not working well, this can cause the clear-dome
shaped cover on the front of the eye to be smaller
than normal (microcornea). It can also cause the
cells in the back of the eye to die, which leads to
vision loss (myopic chorioretinal atrophy). Affected
individuals can also have widely spaced eyes
(telecanthus). Unfortunately, there is no specific
cure. Affected individuals will typically require
ongoing support for their vision loss.

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