A coloboma (from the Greek κολόβωμα, meaning "defect") is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc...

genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve. Ocular disc dysplasia is the most notable ocular defect...

Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination...

"CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth...

regulatory factors, have been implicated in microphthalmia, anophthalmia, and coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19...

Coloboma of optic nerve is a rare defect of the optic nerve that causes moderate to severe visual field defects. Coloboma of the optic nerve is a congenital...

Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular...

when heart or kidney abnormalities are seen. Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes) Preauricular pits/tags...

numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in...

Haligovce and Veľká Lesná, Slovakia. Nedoroscik was born with strabismus and coloboma, causing him to have a lack of depth perception and a high sensitivity...