Results 31 to 40 of about 10,452 (214)

RPGRIP1 and Cone–Rod Dystrophy in Dogs [PDF]

, 2011
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype ...
Zangerl, Barbara, Aguirre, Gustavo D, Kuznetsova, Tatyana N   +2 more
openaire   +3 more sources

Alström Syndrome with Acute Pancreatitis: A Case Report

Kaohsiung Journal of Medical Sciences, 2003
We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu, Shinn-Cherng Chen, Chia-Yen Dia, Ming-Lung Yu, Ming-Yuh Hsieh, Zu-Yau Lin, Liang-Yen Wang, Jung-Fa Tsai, Wen-Yu Chang, Wan-Long Chuang   +9 more
doaj   +1 more source

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific Reports, 2017
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum   +5 more
doaj   +1 more source

RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations

Frontiers in Molecular Neuroscience, 2014
RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang, Jeanne M Frederick, Wolfgang eBaehr   +2 more
doaj   +1 more source

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley, Jasmina Cehajic-Kapetanovic, Morag Shanks, Penny Clouston, Robert E. MacLaren   +4 more
doaj   +1 more source

Clinical disorders affecting mesopic vision

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Gordon T. Plant, Plant, GT, Petzold, A, Axel Petzold   +3 more
core   +1 more source

The research output of rod-cone dystrophy genetics

Orphanet Journal of Rare Diseases, 2022
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countries as classified by the human development ...
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh   +6 more
doaj   +1 more source

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

, 2009
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome.
Chouery, Eliane, Thilo, Bernard, Munier, Francis L, Nan, Francis, Munier, F.L., Ambresin, Aude, Ambresin, A., Nan, F., Mégarbané, André, Escher, Pascal, Polok, Bozena, Schorderet, D.F., Polok, B., Thilo, B., Mégarbané, A., Hamel, C., Escher, P., Meunier, Isabelle, Bolay, S., Hamel, Christian, Meunier, I., Schorderet, Daniel F., Munier, Francis L., Bolay, Sylvain, Schorderet, Daniel F, Escber, Pascal, Chouery, E.   +26 more
core   +1 more source

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

Curvilinear Pigmentary Lesions in a Rod-Cone Dystrophy

, 2005
Purpose To report a peculiar curvilinear pigmentary lesion in the peripheral fundus in a rod-cone dystrophy. Methods Observational case report. Fundus examination of a 57-year-old woman who was known to have a generalized rod-cone dystrophy since she was
Y. Tamaki, M. Sawa, L.A. Yannuzzi
core   +1 more source