Autoszomális recesszív
Caused by changes in both copies of the ADAMTS18 gene, which encodes an enzyme that acts on the matrix surrounding cells and is important in eye development.
Tünetek és jelek
A small cornea and high short-sightedness from early childhood, with thinning (atrophy) of the retina and choroid. Widely spaced inner corners of the eyes (telecanthus) are also part of the condition.
Mit változtat a diagnózis
Regular eye examinations, correction of refractive error, and low-vision support. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Vizsgált gének
Más néven
microcornea, myopic chorioretinal atrophy, and telecanthus; microcornea-myopic chorioretinal atrophy-telecanthus syndrome; MMCAT; MMCAT syndrome
