Results 21 to 30 of about 40,110 (209)

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. [PDF]

Int J Mol Sci, 2021
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM.   +19 more
europepmc   +2 more sources

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss. [PDF]

Front Cell Dev Biol, 2021
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E.   +21 more
europepmc   +2 more sources

ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) Study.

JAMA Ophthalmol
ImportanceReliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. ObjectiveTo identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers.
Nassisi M, Coarelli G, Blanchard B, Dubec-Fleury C, Drine K, Kitic N, Sancho S, Hilab R, Tezenas du Montcel S, Junge C, Lane R, Arnold HM, Durr A, Audo I.   +13 more
europepmc   +2 more sources

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. [PDF]

Ophthalmic Genet, 2021
Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 gene Methods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over ...
Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.   +7 more
europepmc   +2 more sources

Cone rod dystrophy [PDF]

Definitions, 2020
The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision
semanticscholar   +3 more sources

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity. [PDF]

Hum Mol Genet
Mutations in Cytosolic Carboxypeptidase-like Protein 5 (CCP5) are associated with vision loss in humans. To decipher the mechanisms behind CCP5-associated blindness, we generated a novel mouse model lacking CCP5.
Aljammal R, Saravanan T, Guan T, Rhodes S, Robichaux MA, Ramamurthy V.   +5 more
europepmc   +2 more sources

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.

Ophthalmology Retina, 2022
OBJECTIVE To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene, and to identify potential clinical endpoints and optimal patient selection for future therapeutic trials.
Leo C. Hahn, M. Georgiou, Hind Almushattat, M. V. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, J. T. ten Brink, R. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, C. van Cauwenbergh, J. de Zaeytijd, S. Walraedt, Elfride de Baere, R. Mukherjee, M. Mckibbin, M. Meester-Smoor, A. Thiadens, S. Al-Khuzaei, Engin Akyol, A. Lotery, M. V. van Genderen, J. O. Norel, L. Ingeborgh van den Born, C. Hoyng, C. Klaver, S. Downes, A. Bergen, B. Leroy, M. Michaelides, C. Boon   +30 more
semanticscholar   +1 more source

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. [PDF]

J Biol Chem, 2020
Mutations in the GUCY2D gene coding for the dimeric human retinal membrane guanylyl cyclase (RetGC) isozyme RetGC1 cause various forms of blindness, ranging from rod dysfunction to rod and cone degeneration.
Peshenko IV, Olshevskaya EV, Dizhoor AM.
europepmc   +2 more sources

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. [PDF]

Invest Ophthalmol Vis Sci, 2020
Purpose Cone-rod dystrophy (CRD) is a rare hereditary eye disorder that causes progressive degeneration of cone and rod photoreceptors. More than 30 genes, including RAB28, have been associated with CRD; however, only a few RAB28 variants have been ...
Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K.   +13 more
europepmc   +2 more sources