Results 81 to 90 of about 40,110 (209)

Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology

Scientific Reports, 2017
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1ins/ins) as the primary disease ...
Rueben G. Das, F. Marinho, S. Iwabe, Evelyn Santana, K. McDaid, G. Aguirre, K. Miyadera   +6 more
semanticscholar   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

ABCA4-related retinopathies in Lebanon

Heliyon
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies.
Mariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Said El Shamieh   +4 more
doaj   +1 more source

Reflections on emerging therapies for inherited retinal diseases following a community education event: A qualitative exploration

Optometry and Vision Science, Volume 103, Issue 7, July 2026.
ABSTRACT Purpose To explore the inherited retinal diseases (IRD) communities' attitudes and perspective toward emerging therapies—specifically gene therapy, cell therapy, and retinal prostheses—following a community education event. Methods At an in‐person half‐day IRD community education event, subject‐matter experts presented the scientific ...
Eden G. Robertson, Jorden Hua, Kate Hetherington, Michelle O’Hara‐Wright, Anai Gonzalez‐Cordero   +4 more
wiley   +1 more source

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   +1 more source

Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.

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, Xiao-Hui Zhang, Jieqiong Chen, B. Dong, Yang Li   +8 more
semanticscholar   +1 more source

The phenotypic variability of HK1-associated retinal dystrophy

Scientific Reports, 2017
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen   +12 more
doaj   +1 more source

Stem Cell-Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy.

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.
T. Santos-Ferreira, Manuela Völkner, O. Borsch, Jochen Haas, P. Cimalla, Praveen Vasudevan, P. Carmeliet, D. Corbeil, S. Michalakis, E. Koch, M. Karl, M. Ader   +11 more
semanticscholar   +1 more source

Progressive Cone-Dystrophy, Cone-Rod Dystrophy, and Rod-Cone Dystrophies

Güncel Retina Dergisi (Current Retina Journal), 2021
Cone-rod dystrophies are retinopathies in which cones are mainly affected and rod-cone dystrophies (retinitis pigmentosa) are retinopathies in which rods are mainly affected. The most common symptoms in cone-rod dystrophies are a progressive decrease in central vision and color vision loss.
openaire   +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