Results 81 to 90 of about 15,202 (200)

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Journal of Ophthalmology
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez, Rocío Arce-González, Alan Martínez-Aguilar, Carlos E. Rodríguez-López, Sergio Groman-Lupa, M. Isabel Neria-González, Genaro Rodríguez-Uribe, Juan C. Zenteno   +7 more
doaj   +1 more source

Genetic testing for cone rod dystrophies

The EuroBiotech Journal, 2017
Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4, ADAM9, AIPL1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, HRG4, KCNV2, PDE6C, PITPNM3, POC1B, PROM1,
Abeshi A, Zulian A, Beccari T, Dundar M, Ziccardi L, Bertelli M   +5 more
openaire   +4 more sources

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. [PDF]

, 2013
Usher 1 patients are born profoundly deaf and then develop retinal degeneration. Thus they are readily identified before the onset of retinal degeneration, making gene therapy a viable strategy to prevent their blindness.
Boye, S, Boye, SE, Chiodo, V, Dyka, F, Fofo, H, Hauswirth, WW, Lopes, VS, Louie, CM, Williams, DS   +8 more
core   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population

Scientific Reports
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida   +11 more
doaj   +1 more source

Clinical Features of a Pediatric Case with Cone Dystrophy

Van Tıp Dergisi, 2018
The cone dystrophy is a nonhomogenous group of inherited and progressive retinal diseases that affects chiefly the cone system. It is frequently characterized by progressive loss of visual acuity, photophobia, central scotoma, color vision disturbances ...
Lokman Balyen, Tuncay Küsbeci
doaj   +1 more source

Abnormal cone synapses in human cone-rod dystrophy

Ophthalmology, 1998
Little is known of the cytopathology of photoreceptors in human inherited retinal dystrophies that initially affect the central retina, including the macula. The current study sought to determine the cytologic features of dysfunctional cone and rod photoreceptors, as well as the pattern of degeneration of the cells in representative cases of central ...
K, Gregory-Evans, R N, Fariss, D E, Possin, C Y, Gregory-Evans, A H, Milam   +4 more
openaire   +2 more sources

Cone-Rod Dystrophy With Serpentine-like Retinal Deposits [PDF]

Archives of Ophthalmology, 1998
To describe the clinical and electrophysiologic findings in a novel retinal dystrophy.Ophthalmologic and electrophysiologic examinations were performed in 3 affected members of 1 family: a 10-year-old girl, her 30-year-old mother, and her 59-year-old maternal grandfather.
openaire   +2 more sources

Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations. [PDF]

, 2019
PurposeTo determine whether high-resolution retinal imaging measures of macular structure correlate with visual function over 36 months in retinal degeneration (RD) patients and normal subjects.MethodsTwenty-six eyes of 16 RD patients and 16 eyes of 8 ...
Baldwin, Angela, De la Huerta, Irina, Duncan, Jacque L, Foote, Katharina G, Gustafson, Kevin, Porco, Travis C, Rinella, Nicholas, Roorda, Austin, Zayit-Soudry, Shiri   +8 more
core   +1 more source

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Scopelliti AJ, Jamieson RV, Barnes EH, Nash B, Rajagopalan S, Cornish EL, Grigg JR.   +6 more
europepmc   +1 more source

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice. [PDF]

Genes (Basel), 2023
García-Llorca A, Ólafsson KH, Sigurdsson AT, Eysteinsson T.   +3 more
europepmc   +1 more source