Results 51 to 60 of about 732 (140)

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies

Acta Ophthalmologica, Volume 100, Issue 3, Page e847-e858, May 2022., 2022
Abstract Purpose To analyse the spectrum of clinical features and molecular genetic data in a series of patients carrying likely disease‐associated variants in the BEST1 gene. Methods Retrospective observational analysis of clinical data extracted from the medical records of visual function, multimodal imaging and electrophysiology of 62 eyes of 31 ...
Katarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, Simone Schimpf‐Linzenbold, Saskia Biskup, Agnieszka Brzozowska, Robert Rejdak, Susanne Kohl, Eberhart Zrenner   +8 more
wiley   +1 more source

Development of focal choroidal excavation in non-neovascular age related macular degeneration with pachy-choroid features [PDF]

Journal of Current Ophthalmology, 2019
Touka Banaee, Lance J Lyons, Jaafar El-Annan   +2 more
exaly   +2 more sources

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Movement Disorders Clinical Practice, Volume 9, Issue 2, Page 218-228, February 2022., 2022
Abstract Background Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, both phenotypically and genotypically, NDUFA12‐related mitochondrial disease.
Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, Uluç Yis, Hoda Tomoum, Hanan Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horvath, Semra Hiz, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian   +26 more
wiley   +1 more source

Compass Fundus‐Guided Perimetry in Geographic Atrophy

Journal of Ophthalmology, Volume 2022, Issue 1, 2022., 2022
Purpose. To evaluate compass (CMP), a recently introduced device that combines scanning ophthalmoscopy, automated perimetry, and eye tracking, for fundus‐guided perimetry (microperimetry) with the purpose of correlating perimetric retinal sensitivity (PRS) and retinal geographic atrophy (GA) features. Materials and Methods.
Roberta Farci, Arturo Carta, Paolo Fogagnolo, Luca Mario Rossetti, Maurizio Fossarello, Siamak Ansari-Shahrezaei   +5 more
wiley   +1 more source

Coexistence of choroidal osteoma, focal choroidal excavation, and choroidal neovascularization

Indian Journal of Ophthalmology. Case Reports
Akanksha Pandit, Pradeep Sagar, Shubhra Shweta, B C Pradeep, A Varsha   +4 more
doaj   +2 more sources

Stargardt disease: Multimodal imaging: A review

Clinical &Experimental Ophthalmology, Volume 49, Issue 5, Page 498-515, July 2021., 2021
Abstract Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like substances. Recent advances in molecular diagnosis and therapeutic options are complemented by the increasing recognition of new multimodal imaging biomarkers that may ...
Rachael C. Heath Jeffery, Fred K. Chen
wiley   +1 more source

Focal choroidal excavation in eyes with central serous chorioretinopathy. [PDF]

, 2013
[Purpose]To study the prevalence and 3-dimensional (3-D) tomographic features of focal choroidal excavations in eyes with central serous chorioretinopathy (CSC) using swept-source optical coherence tomography (OCT).
Ueda-Arakawa, Naoko, Tsujikawa, Akitaka, Nakata, Isao, Takahashi, Ayako, Ellabban, Abdallah A, Ooto, Sotaro, Oishi, Akio, Miyake, Masahiro, Arichika, Shigeta, Yoshimura, Nagahisa, Yamashiro, Kenji, Akagi-Kurashige, Yumiko, Yoshitake, Shin   +12 more
core   +1 more source

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy

Molecular Genetics &Genomic Medicine, Volume 9, Issue 6, June 2021., 2021
This is the first report of Japanese patients with hypotrichosis with juvenile macular dystrophy (HJMD) and novel compound heterozygous truncating variants in the CDH3 gene. Our findings can expand the knowledge and understanding of CDH3‐related HJMD. Abstract Background Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive
Takaaki Hayashi, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano   +7 more
wiley   +1 more source

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FEATURES OF FOCAL CHOROIDAL EXCAVATION AND THE CHOROIDAL STROMA VARIATIONS WITH OCCURRENCE OF EXCAVATION

, 2020
To describe retinal and choroidal vascular changes and choroidal stroma variations occurring in focal choroidal excavation (FCE)
Arrigo, Alessandro, Jampol, Lee M, Lee M. Jampol, Ugo Introini, Mercuri, Stefano, Stefano Mercuri, Firuzeh Rajabian, Introini, Ugo, Maurizio Battaglia Parodi, Battaglia Parodi, Maurizio, Bandello, Francesco, Francesco Bandello, Rajabian, Firuzeh, Alessandro Arrigo   +13 more
core   +1 more source

Complete tomographic resolution of focal choroidal excavation complicated with choroidal neovascularization after anti-VEGF treatment

, 2023
We report a case of focal choroidal excavation (FCE) that resolved after intravitreal injection of anti-vascular endothelial growth factor (VEGF) for choroidal neovascularization (CNV) and we describe its tomographic features.
Imène Zhioua Braham (16962927)
core   +1 more source