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...

both eyes), Microphthalmos (underdevelopment of one or both eyes), and Coloboma (a portion of tissue missing in the eye(s)). Premature Birth Refractive...

Medical Center in Burbank, California. Ritter had a birth defect known as a coloboma in his right eye. His father, Tex Ritter, was a singing cowboy and matinee...

proposals that it is caused by a dissociation of the pupil margins, a partial coloboma which is a hole in the eye, or abnormal eye tissue composition. There are...

optic nerve, and incomplete closure/slitting of the membranes of the eye (coloboma). Rapid, involuntary eye movements (nystagmus) are common. Since people...

defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual...

sphincter muscle[citation needed] Aphakia Blepharitis Buphthalmos Cataracts Coloboma Cone dystrophy Congenital abnormalities of the eye Viral conjunctivitis...

syndrome Coloboma chorioretinal cerebellar vermis aplasia Coloboma hair abnormality Coloboma of choroid and retina Coloboma of eye lens Coloboma of iris...

/eye anomalies seen in children with facial clefts are colobomas and vertical dystopia. The coloboma which occurs often in facial clefts is a cleft in the...

of cat breeds that have the condition such as Van cat. Brushfield spots Coloboma Erythrism List of people with heterochromia List of systemic diseases with...

maturation Mental retardation The ocular abnormalities are generally retinal coloboma and nystagmus.[citation needed] Because MOMO is such a rare disorder, very...

especially lateral to the optic disc, is hypoplastic (underdeveloped). A coloboma, or hole, may form in or near the optic disc due to a failed closure of...

article. Sorkin married Pilar Jenny Queen on June 9, 2007. Sorkin has a coloboma in his left eye that sometimes makes it appear as if he has two different...

MRI revealed microphthalmos in the left ocular globe and a coloboma-like structure in the right in a female infant with Fraser syndrome....

the merle gene. Homozygous merles can be deaf or blind, or express iris colobomas, retinal detachment, cataracts, persistent pupillary membrane, a displacement...

including microphthalmia, Peters' anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical...

including progressive retinal atrophy (PRA-prcd), hereditary cataracts, iris coloboma, micropthalmia, multi-drug resistance gene (MDR1), hip dysplasia, and degenerative...

fibromas 10% develop cardiac fibromas ocular abnormalities: cataracts, coloboma, microphthalmia. meningiomas Mutations in the human homologue of Drosophila...

genetics or developmental conditions. Examples of these conditions include; Coloboma, Noonan syndrome, Hypohidrotic ectodermal dysplasia, EEC (ectrodactyly-...

autosomal-recessive disease that is identified by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features caused by a homozygous mutation in...

causing blindness) and several less serious hereditary eye problems such as coloboma (a hole in the eye structure), and persistent pupillary membrane (tiny...