Results 11 to 20 of about 54,484 (289)

Driving with retinitis pigmentosa

Ophthalmic Genetics, 2023
To establish the proportion of patients with retinitis pigmentosa (RP) meeting the Australian fitness to drive (FTD) visual standards. A prospective consecutive case series of patients with a clinical or genetic diagnosis of RP. Data on age at symptom onset, current driving status, inheritance pattern, better eye visual acuity (BEVA), binocular ...
Rachael C. Heath Jeffery, Johnny Lo, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. DeRoach, Miguel S. Kabilio, Fred K. chen   +7 more
openaire   +3 more sources

Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families [PDF]

, 2017
Purpose : Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases.
Casteels, Ingele, Claes, Charlotte, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, de Ravel, Thomy, De Zaeytijd, Julie, Depasse, Fanny, Flipts, Helena, Fransen, Erik, Leroy, Bart, Roels, Dimitri, Van Camp, Guy, Van Cauwenbergh, Caroline, WALRAEDT, SOPHIE   +14 more
core   +7 more sources

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer [PDF]

International Journal of Ophthalmology, 2018
AIM: To study the genes responsible for retinitis pigmentosa. METHODS: A total of 15 Chinese families with retinitis pigmentosa, containing 94 sporadically afflicted cases, were recruited. The targeted sequences were captured using the Target_Eye_365_V3
Yu Zheng, Hai-Lin Wang, Jian-Kang Li, Li Xu, Laurent Tellier, Xiao-Lin Li, Xiao-Yan Huang, Wei Li, Tong-Tong Niu, Huan-Ming Yang, Jian-Guo Zhang, Dong-Ning Liu   +11 more
doaj   +1 more source

Retinitis pigmentosa: A Case Report with Thr17Arg as a Novel Mutation in RHO Gene. [PDF]

Journal of Epigenetics, 2022
Background and Aim: Retinitis pigmentosa (RP) is the most common type of inherited progressive photoreceptor cells degeneration causing night blindness, progressive reduction of visual field, loss of retinal pigment epithelial function, and ultimately ...
sajjad Rafiee Komachali, Zakieh Siahpoosh, Mansoor Salehi   +2 more
doaj   +1 more source

Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases

Human Mutation, Volume 43, Issue 12, Page 2234-2250, December 2022., 2022
Abstract Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age‐related MD (AMD) expression.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P. M. Cremers   +15 more
wiley   +1 more source

Retinitis Pigmentosa Unilateral: Reporte de 2 Casos.

Revista Oftálmica, 2021
Objetivo: Reportar 2 casos clínicos con diagnóstico de Retinitis Pigmentosa Unilateral. Caso Clínico: Se presentan 2 casos con Retinitis, Pigmentosa unilateral.
Fernando Salvador Cifuentes y Cifuentes
doaj   +1 more source

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity. Abstract Purpose To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity.
Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong   +8 more
wiley   +1 more source

Coincidence of retinitis pigmentosa and pseudoexfoliative glaucoma [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction. This is an observational case report presenting retinitis pigmentosa associated with pseudoexfoliative glaucoma. Case outline. A 69-year-old man presented with retinitis pigmentosa. On examination, pseudoexfoliative material was detected on
Božić Marija, Marković Vujica, Marjanović Ivan, Marić Vesna   +3 more
doaj   +1 more source

Uveitis Anterior Asociado a Retinitis Pigmentosa: Reporte de un Caso

Revista Oftálmica, 2022
Objetivo: Reportar el caso de una paciente con antecedentes de esclerosis múltiple, diagnosticada con retinitis pigmentosa, y presenta cuadros de uveítis anterior a recurrencia.
Alice Smith
doaj   +1 more source

A rare case of senior loken syndrome

TNOA Journal of Ophthalmic Science and Research, 2020
Senior Loken syndrome is a rare autosomal recessive genetic disorder. This syndrome mainly targets kidney and eye. Nephronophthisis, a chronic kidney disorder, is the common renal manifestation of this syndrome.
Jaisingh Ramapriyadharshini, Krishnamurthy Ilango, Elango Vidhya   +2 more
doaj   +1 more source