Results 41 to 50 of about 9,513 (213)

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. [PDF]

, 2016
PurposeTo identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases.MethodsSeven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the ...
Akram, Javed, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Clare Brooks S, Hejtmancik, J Fielding, Iqbal, Muhammad, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +5 more sources

Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65 [PDF]

, 2016
Leber congenital amaurosis is a group of inherited retinal dystrophies that cause severe sight impairment in childhood; RPE65-deficiency causes impaired rod photoreceptor function from birth and progressive impairment of cone photoreceptor function ...
Abelleira-Hervas, L, Ali, RR, Bainbridge, JW, Cristante, E, Duran, Y, Fourali, S, Georgiadis, A, Gonzalez-Cordero, A, Michaelides, M, Ribeiro, J, Robbie, SJ, Smith, AJ, Sünkel-Laing, B   +12 more
core   +1 more source

Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs. [PDF]

, 2017
PURPOSE: Retinal epithelium-specific protein 65 kDa (RPE65)-deficient dogs are a valuable large animal model species that have been used to refine gene augmentation therapy for Leber congenital amaurosis type-2 (LCA2).
Ali, RR, Annear, MJ, Bainbridge, JW, Gervais, KJ, Mowat, FM, Occelli, LM, Petersen-Jones, SM, Querubin, J, Smith, AJ   +8 more
core   +1 more source

fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis. [PDF]

PLoS ONE, 2014
A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli.
Manzar Ashtari, Laura Cyckowski, Alborz Yazdi, Amanda Viands, Kathleen Marshall, István Bókkon, Albert Maguire, Jean Bennett   +7 more
doaj   +1 more source

Minocycline and bone marrow–derived mononuclear cells as potential therapeutics for hereditary retinal degenerations

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess in Royal College of Surgeons (RCS) rats if the combination of two previously documented neuroprotective strategies: minocycline administration and bone marrow–derived mononuclear cells (BM‐MNCs) intravitreal transplantation, offers enhanced neuroprotection compared with each treatment alone.
Alba Videla‐Ristol, Ana Martínez‐Vacas, David García‐Bernal, Manuel Vidal‐Sanz, María Paz Villegas‐Pérez, Diego García‐Ayuso, Johnny Di Pierdomenico   +6 more
wiley   +1 more source

Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease

Acta Ophthalmologica, EarlyView.
Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor, Amandeep S. Josan, Daniel A O Adeyoju, Isabella Farrance, Robert E. MacLaren   +4 more
wiley   +1 more source

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
core   +1 more source

Next‐Generation Strategies for Neural Repair and Regeneration: Neural Organoid Transplantation in the CNS

Cell Proliferation, EarlyView.
Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang, Jinrui Li, Xingjia Mao, Wanyu Wang, Yansong Li, Xuefei Hu, Jinjie Zhong, Fengdong Zhao, Linlin Wang   +8 more
wiley   +1 more source

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

CRB1 gene variant in leber congenital amaurosis: molecular and clinical investigations

Egyptian Journal of Medical Human Genetics
Introduction In Iran, due to widespread consanguineous marriages, the emergence of genetic variants is a likely issue. This study aimed to describe an Iranian female patient with a novel variant in the Crumbs homologue 1 (CRB1) associated with Leber ...
Almuthana K. Hameed, Ahmed M. Amshawee, Sahar Kareem Al-Mozani, Mostafa Neissi, Javad Mohammadi-Asl, Kamele Jorfi, Doaa Haqi Ismael, Elaheh Nekouei   +7 more
doaj   +1 more source