Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. Symptoms include...
63 KB (6,334 words) - 04:47, 15 November 2024
Usher syndrome (redirect from Deafness-retinitis pigmentosa syndrome)
syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a...
34 KB (3,528 words) - 20:30, 29 October 2024
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs...
10 KB (1,035 words) - 11:41, 18 August 2023
sensitive. Defects in the rhodopsin gene cause eye diseases such as retinitis pigmentosa and congenital stationary night blindness. Rhodopsin was discovered...
39 KB (4,404 words) - 14:51, 9 November 2024
"sensing" tissue. Retinitis may be caused by a number of different infectious agents. Its most common form, called retinitis pigmentosa, has a prevalence...
6 KB (631 words) - 00:59, 22 October 2023
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. The gene is located on the X-chromosome...
18 KB (2,273 words) - 06:13, 1 June 2024
Retinitis Pigmentosa International (RPI or RP International) is an international, 501(c)(3) non-profit organization that is committed to focusing world...
6 KB (598 words) - 01:16, 29 September 2024
Locus heterogeneity (section Retinitis pigmentosa)
number of human diseases. For instance, it has been associated with retinitis pigmentosa, hypertrophic cardiomyopathy, osteogenesis imperfecta, familial...
7 KB (783 words) - 22:11, 26 April 2024
the cause of autosomal dominant retinitis pigmentosa (the first identified gene for non-syndromic retinitis pigmentosa). He was the David G. Cogan Professor...
39 KB (3,812 words) - 04:14, 25 November 2024
insufficient adaptation to darkness. The most common cause of nyctalopia is retinitis pigmentosa, a disorder in which the rod cells in the retina gradually lose their...
10 KB (1,118 words) - 23:50, 16 October 2024
around the UK, including The Comedy Store. McCausland is blind due to retinitis pigmentosa. McCausland was born in 1977 in West Derby Village in Liverpool and...
12 KB (1,235 words) - 16:55, 24 November 2024
the entire spectrum of retinal degenerative diseases, including retinitis pigmentosa, macular degeneration, Usher syndrome, Stargardt disease and related...
11 KB (1,349 words) - 03:37, 20 May 2022
Hexokinase I (section Retinitis pigmentosa)
change at position 847 from glutamate to lysine) has been linked to retinitis pigmentosa. Since this substitution mutation is located far from known functional...
26 KB (3,083 words) - 19:36, 11 November 2024
Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a...
2 KB (222 words) - 14:24, 25 October 2024
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, also known as Kurukawa-Takagi-Nakao syndrome is a very rare genetic disorder which...
3 KB (198 words) - 11:15, 11 September 2024
National Eye Institute (section Retinitis pigmentosa)
also funds research on many other causes of vision loss including retinitis pigmentosa, uveitis, retinal detachment, and rare eye diseases and disorders...
52 KB (5,859 words) - 14:35, 10 September 2024
humans, mutated CNGA1 genes result in an autosomal recessive form of retinitis pigmentosa, a degenerative form of blindness. CNGB1, previously called the rod...
39 KB (4,913 words) - 23:11, 11 January 2024
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies...
3 KB (227 words) - 12:42, 11 August 2024
Willie Brown (politician) (category People with retinitis pigmentosa)
president. While serving as Assembly speaker, Brown was diagnosed with retinitis pigmentosa (RP), a disease that has no cure and would slowly destroy his eyesight...
71 KB (7,558 words) - 12:20, 17 November 2024
measurement can be made by Optical coherence tomography. Patients with retinitis pigmentosa have abnormal thinning of the RNFL which correlates with the severity...
12 KB (1,321 words) - 15:58, 14 October 2024
of Retinitis Pigmentosa is observed to result in fewer and less severe microvascular lesions in both humans and mouse models. Retinitis Pigmentosa results...
51 KB (5,720 words) - 06:09, 2 November 2024
Salvatore Cascio (category People with retinitis pigmentosa)
he received critical acclaim and a BAFTA Award. He suffers from retinitis pigmentosa. He is Roman Catholic. Giordano, Lucio (2 September 2022). "Sono...
2 KB (72 words) - 11:55, 15 October 2024
hypogammaglobulinemia Retinitis pigmentosa Retinitis pigmentosa-deafness Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation...
9 KB (758 words) - 00:25, 28 November 2023
potential to treat achromatopsia, X-linked retinoschisis, X-linked retinitis pigmentosa, and age-related macular degeneration. The company has six products...
7 KB (502 words) - 15:28, 13 February 2024
Differential diagnosis Amblyopia, retrobulbar optic neuropathy, retinitis pigmentosa sine pigmento Treatment Eyeglasses, contact lenses, refractive surgeries...
23 KB (2,171 words) - 19:58, 22 October 2024
ABCA4 related disease has a role to play in other diseases such as retinitis pigmentosa, cone-rod dystrophies and age-related macular degeneration (AMD)...
24 KB (2,922 words) - 10:54, 28 August 2024
divided into neoplastic and non-neoplastic conditions. Non-neoplastic: retinitis pigmentosa intraocular foreign body juvenile xanthogranuloma retinal detachment...
31 KB (3,211 words) - 14:37, 17 November 2024
total blindness or severe sight loss from birth or early childhood. Retinitis pigmentosa is characterized by decreased peripheral vision and trouble seeing...
90 KB (10,430 words) - 04:49, 22 November 2024
secretions. In 1922, he described his studies of two sisters who had retinitis pigmentosa, polydactyly, hypogonadism as well as obesity. Two years earlier...
5 KB (460 words) - 13:47, 17 October 2024
recessive congenital stationary night blindness (CSNB; OMIM 310500); retinitis pigmentosa 2 (RP2; OMIM 312600); Bornholm eye disease (OMIM 310460). Many genes...
37 KB (3,867 words) - 16:57, 5 November 2024