Results 201 to 210 of about 517,479 (253)

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Divergent Effects of HSP70 Overexpression in Photoreceptors During Inherited Retinal Degeneration. [PDF]

Invest Ophthalmol Vis Sci, 2020
Jiang K, Fairless E, Kanda A, Gotoh N, Cogliati T, Li T, Swaroop A.   +6 more
europepmc   +1 more source

Macular telangiectasia type 2 genetic risk variants associated with clinical characteristics in the Slovenian cohort

Acta Ophthalmologica, EarlyView.
Abstract Purpose Early diagnosis of macular telangiectasia type 2 (MacTel) remains challenging, and the contribution of genetic variation to its clinical heterogeneity is unclear. This study investigated associations between MacTel risk variants and clinical characteristics in a Slovenian cohort.
Ajda Kunčič, Nataša Debeljak, Petra Hudler, Janez Smerkolj, Mojca Urbančič   +4 more
wiley   +1 more source

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant. [PDF]

Int J Mol Sci
Monson E, Cideciyan AV, Roman AJ, Sumaroka A, Swider M, Wu V, Viarbitskaya I, Jacobson SG, Fliesler SJ, Pittler SJ.   +9 more
europepmc   +1 more source

Proliferative vitreoretinopathy: An integrative, multi‐pathway perspective on pathogenesis and therapy

Acta Ophthalmologica, EarlyView.
Abstract Proliferative vitreoretinopathy (PVR) remains the principal biological cause of failed retinal detachment repair. Classical pathogenic models centred on retinal pigment epithelium (RPE) dispersion, retinal injury responses or compartment‐restricted mechanisms do not fully explain the heterogeneity, biomechanical behaviour and clinical ...
Koen A. van Overdam, J. Sebag
wiley   +1 more source

Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration. [PDF]

Transl Vis Sci Technol
Cerolini S, Bennett J, Leroy BP, Durham T, Coates C, Pletcher MT, Lacey S, Aleman TS.   +7 more
europepmc   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Retinoic Acid-Dependent Loss of Synaptic Output from Bipolar Cells Impairs Visual Information Processing in Inherited Retinal Degeneration. [PDF]

J Neurosci
Ganzen L, Yadav SC, Wei M, Ma H, Nawy S, Kramer RH.   +5 more
europepmc   +1 more source

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. [PDF]

Cells, 2020
Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone L, Naggert JK, Nishina PM, Krebs MP.   +9 more
europepmc   +1 more source