Results 71 to 80 of about 82,030 (241)

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

Real‐world outcomes of aflibercept 8 mg in patients previously treated for neovascular age‐related macular degeneration

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate visual, anatomical and safety outcomes of aflibercept 8 mg in previously treated patients with neovascular age‐related macular degeneration (nAMD). Methods This retrospective study included nAMD patients switched to aflibercept 8 mg from prior anti‐VEGF therapies at Sahlgrenska University Hospital between February 2024 and ...
Imadeddin Abu Ishkheidem, Esra Inci, Martin Breimer, Sofia Töyrä Silfverswärd, Madeleine Zetterberg, Marita Andersson Grönlund   +5 more
wiley   +1 more source

Characterising PRPF31‐associated retinal dystrophy: Clinical insights from baseline data in a natural history study

Acta Ophthalmologica, EarlyView.
Abstract Purpose To characterise the baseline clinical features and genotypes of adults with pre‐mRNA processing factor 31 (PRPF31)‐associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4‐year natural history study, and to explore correlations between selected baseline parameters.
Kathrine Olaussen Eriksen, Jon Roger Eidet, Ulrika Kjellström, Jacopo Baldesi, Ragnheidur Bragadóttir, Leonardo Colombo, Josephine Prener Holtan   +6 more
wiley   +1 more source

Bartonella henselae related unilateral anterior uveitis and subsequent multifocal retinitis in a case under certolizumab treatment

European Journal of Case Reports in Internal Medicine
Introduction: A case of ocular bartonellosis under anti-tumour necrosis factor treatment is described. Case description: A 29-year-old woman with psoriasis who had been on certolizumab treatment was examined with a left visual deterioration following a ...
Mustafa Kayabaşı, Işıl Kefeli, Pınar Çakar Özdal, Ali Osman Saatci   +3 more
doaj   +1 more source

Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration. [PDF]

, 2019
PurposeTo assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally.MethodsHigh-resolution images of the retina were obtained using adaptive optics scanning laser ophthalmoscopy from ...
Bensinger, Ethan, Duncan, Jacque L, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Rinella, Nicholas, Roorda, Austin, Saud, Asma   +9 more
core  

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Mesopic microperimetry in Stargardt disease: Application and reliability

Acta Ophthalmologica, EarlyView.
Abstract Purpose Mesopic microperimetry (mMP) is a promising functional endpoint in clinical trials for Stargardt disease type 1 (STGD1). This study evaluated the test–retest variability of mMP and influencing factors, which is essential for ensuring reliability in future STGD1 trials.
Sybren H. Kootstra, Jeroen A. A. H. Pas, Patty P. A. Dhooge, Steffen Schmitz‐Valckenberg, Maurizio Battaglia Parodi, Philipp Herrmann, Frank G. Holz, Andrew J. Lotery, Katarina Stingl, Thomas H. Wheeler‐Schilling, Camiel J. F. Boon, Carel B. Hoyng, Soraprazan Consortium   +12 more
wiley   +1 more source

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source