Results 21 to 30 of about 37,333 (227)

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. [PDF]

Hum Mutat, 2020
Inactivating variants in the centrosomal CEP78 gene have been found in cone‐rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.   +30 more
europepmc   +2 more sources

Screening ofABCA4Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations [PDF]

Investigative Ophthalmology and Visual Science, 2016
PURPOSE Mutations in the ABCA4 gene are heterogeneous and somewhat ethnic specific and can result in autosomal recessive Stargardt disease (STGD1), cone or cone-rod dystrophy (CRD), and retinitis pigmentosa.
Feng Jiang, Zhe Pan, Ke Xu, Lu Tian, Yue Xie, Xiaohui Zhang, Jieqiong Chen, Bing Dong, Yang Li   +8 more
openalex   +2 more sources

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Soucy M, Kolesnikova M, Kim AH, Tsang SH.   +3 more
europepmc   +2 more sources

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Purpose To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). Methods Three males and one female from three unrelated families were first seen at the ages of 15 to 22 years and ...
Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.   +6 more
europepmc   +2 more sources

Unilateral retinitis pigmentosa and cone-rod dystrophy

Clinical Ophthalmology, 2009
Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj   +5 more sources

Peripapillary vessel density in eyes with cone-rod dystrophy. [PDF]

PLoS ONE
PurposeTo compared the vessel density (VD) around the optic nerve head (ONH) in eyes with cone-rod dystrophy (CORD) and healthy control eyes in a sector-wise manner and to investigate the relationship between VD around the ONH and visual function in CORD
Masato Shinozuka, Mizuho Arai, Yumeno Hirayama, Yuna Uechi, Shohei Kawasaki, Kazuyoshi Okawa, Yume Iwashita, Misa Miyazato, Kazushi Hirono, Kentaro Nakamura, Tatsuya Inoue, Ryo Asaoka, Yasuo Yanagi, Maiko Maruyama-Inoue, Kazuaki Kadonosono   +14 more
doaj   +2 more sources

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. [PDF]

Sci Rep, 2019
GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD). GUCA1A-associated AD-COD/CORD has never been reported in the Japanese population.
Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.   +15 more
europepmc   +2 more sources

Stem Cell–Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy [PDF]

Investigative Ophthalmology and Visual Science, 2016
PURPOSE Preclinical studies on photoreceptor transplantation provided evidence for restoration of visual function with pluripotent stem cells considered as a potential source for sufficient amounts of donor material.
Tiago Santos‐Ferreira, Manuela Völkner, Oliver Borsch, Jochen Haas, Peter Cimalla, Praveen Vasudevan, Peter Carmeliet, Denis Corbeil, Stylianos Michalakis, Edmund Koch, Michael Karl, Marius Ader   +11 more
openalex   +2 more sources

Progressive Cone/Cone-Rod Dystrophy

, 2020
Progressive cone/cone-rod dystrophies (CRD) are a heterogeneous group of disorders characterized by early deterioration of visual acuity and color vision, and in some cases nystagmus. The prevalence is estimated to be 1/40,000. Patients usually present in childhood or early adult life.
Andrew Tsai, Adrian Koh, Ranjana Mathur, Gemmy C. M. Cheung   +3 more
openaire   +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