Disease
Anophthalmos - autosomal recessive
Overview
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Contributor: Gordon K. Klintworth
Autosomal recessive anophthalmos (autosomal recessive anophthalmia) is an inherited type of anophthalmia with an autosomal recessive mode of inheritance. Affected individuals are born without apparent eyes. This type of anophthalmos is extremely rare and can only be diagnosed if at least one affected family member has had the orbital tissues examined by serial sectioning and no rudiments of the neuroectoderm of the optic cup are found in the orbit. More often orbits with anophthalmia contain microphthalmic globes and the condition is more precisely microphthalmos