Results 41 to 50 of about 631 (127)

Brain heterotopia formation by ciliopathic breakdown of neuroepithelial and blood‐cerebrospinal fluid barriers

Brain Pathology, Volume 33, Issue 4, July 2023., 2023
Forebrain heterotopia development caused by combined barrier breakdown. Abstract The developmental functions of primary cilia and the downstream signaling pathways have been widely studied; however, the roles of primary cilia in the developing neurovascular system are not clearly understood.
Hyun Jin Jung, Seungeun Yeo, Jaemyung Jang, Samuel Pleasure, Youngshik Choe   +4 more
wiley   +1 more source

Central serous chorioretinopathy: A review

Clinical &Experimental Ophthalmology, Volume 51, Issue 3, Page 243-270, April 2023., 2023
Abstract Central serous chorioretinopathy (CSC) is the fourth most common non‐surgical retinopathy associated with fluid leakage. The pathogenesis is not yet completely understood, but changes in the choroid, sclera and RPE have been described associated with venous congestion of choroidal outflow.
Adrian T. Fung, Yi Yang, Andrew W. Kam
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
Lance Lyons, Jaafar El Annan, Touka Banaee   +2 more
exaly   +2 more sources

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

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

Two Cases of Focal Choroidal Excavation Detected by Spectral-Domain Optical Coherence Tomography

Case Reports in Ophthalmology, 2012
Purpose: To report the clinical findings of 2 patients with focal choroidal excavation in the macula detected by spectral-domain optical coherence tomography (SD-OCT).
Takashi Katome, Yoshinori Mitamura, Fumika Hotta, Masanori Niki, Takeshi Naito   +4 more
doaj   +1 more source

Pachychoroid Spectrum Disorders: An Updated Review

Journal of Ophthalmic & Vision Research, 2023
Pachychoroid disease spectrum is a recent term that has been associated with an increasing number of phenotypes. This review discusses updated findings for each of the typical pachychoroid entities (central serous chorioretinopathy, pachychoroid pigment ...
Richard B. Brown, Sashwanthi Mohan, Jay Chhablani   +2 more
doaj   +1 more source