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Showing results for coloboma. No results found for Kolobom.
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  • Thumbnail for Coloboma
    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...
    8 KB (913 words) - 02:50, 4 August 2024
  • Thumbnail for Papillorenal syndrome
    genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve. Ocular disc dysplasia is the most notable ocular defect...
    12 KB (1,382 words) - 06:05, 16 November 2023
  • Thumbnail for Joubert syndrome
    Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination...
    18 KB (1,543 words) - 12:28, 11 June 2024
  • Thumbnail for CHARGE syndrome
    "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...
    14 KB (1,581 words) - 01:36, 19 August 2024
  • Thumbnail for Coloboma of macula-brachydactyly type B syndrome
    Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular...
    3 KB (153 words) - 13:20, 7 May 2023
  • regulatory factors, have been implicated in microphthalmia, anophthalmia, and coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19...
    25 KB (2,173 words) - 09:44, 18 March 2024
  • Thumbnail for Coloboma of optic nerve
    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...
    4 KB (453 words) - 16:58, 10 November 2023
  • Thumbnail for Cat eye syndrome
    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...
    9 KB (934 words) - 20:57, 23 May 2024
  • numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in...
    14 KB (1,341 words) - 22:41, 10 April 2024
  • Thumbnail for Stephen Nedoroscik
    and is highly sensitive to light due to being born with strabismus and coloboma. His eye conditions have required him to wear eyeglasses, and prevented...
    49 KB (3,600 words) - 04:20, 7 September 2024
  • Thumbnail for John Ritter
    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...
    43 KB (2,984 words) - 01:32, 1 September 2024
  • 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...
    16 KB (1,947 words) - 22:26, 18 April 2024
  • /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...
    26 KB (3,571 words) - 12:14, 2 May 2024
  • Thumbnail for Congenital blindness
    both eyes), Microphthalmos (underdevelopment of one or both eyes), and Coloboma (a portion of tissue missing in the eye(s)). Premature Birth Refractive...
    24 KB (2,632 words) - 18:56, 8 June 2024
  • sphincter muscle[citation needed] Aphakia Blepharitis Buphthalmos Cataracts Coloboma Cone dystrophy Congenital abnormalities of the eye Viral conjunctivitis...
    18 KB (1,794 words) - 14:58, 9 September 2024
  • syndrome Coloboma chorioretinal cerebellar vermis aplasia Coloboma hair abnormality Coloboma of choroid and retina Coloboma of eye lens Coloboma of iris...
    40 KB (3,657 words) - 03:02, 17 August 2024
  • 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...
    7 KB (749 words) - 23:29, 20 June 2024
  • Thumbnail for Nevoid basal-cell carcinoma syndrome
    fibromas 10% develop cardiac fibromas ocular abnormalities: cataracts, coloboma, microphthalmia. meningiomas Mutations in the human homologue of Drosophila...
    15 KB (1,730 words) - 17:39, 22 April 2024
  • optic nerve, and incomplete closure/slitting of the membranes of the eye (coloboma). Rapid, involuntary eye movements (nystagmus) are common. Since people...
    20 KB (2,534 words) - 15:51, 2 July 2024
  • Thumbnail for Heterochromia iridum
    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...
    26 KB (2,854 words) - 09:03, 10 September 2024
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