coloboma of macula
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
MONDO:0001476
coloboma
is_a
MONDO:0020242
hereditary macular dystrophy
is_a
coloboma of macula
exact
hereditary macular coloboma (subtype)
related
macular coloboma
related