Results 61 to 70 of about 15,202 (200)

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +5 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   +1 more source

A study of candidate genes for day blindness in the standard wire haired dachshund [PDF]

, 2008
Background A genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were ...
Anne Wiik, Ernst-Otto Ropstad, Ellen Bjerkås, Frode Lingaas   +3 more
core   +2 more sources

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

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

American Journal of Ophthalmology Case Reports, 2020
Purpose: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations.
Sofia M. Muns, BS, Lorena A. Montalvo, MD, Jose G. Vargas Del Valle, BS, Meliza Martinez, MD, Armando L. Oliver, MD, Natalio J. Izquierdo, MD   +5 more
doaj   +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

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan [PDF]

, 2009
Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences ...
Adhi, Mehreen, Inglehearn, Chris F, Jafri, Syed Hussain, McKibbin, Martin, Rashid, Yasmin   +4 more
core   +2 more sources

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta [PDF]

, 2018
Purpose: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as “Jalili Syndrome.” Design: Retrospective observational case series.
Agarwal, Aldred, Aleman, Bailleul-Forestier, Cherkaoui Jaouad, Downey, Gerth-Kahlert, Jalili, Jalili, Kylstra, Luder, Meyer, Michaelides, Michaelides, Nair, Parry, Polok, Rahimi-Aliabadi, Rajpar, Smith   +19 more
core   +3 more sources

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