Results 41 to 50 of about 390 (139)

Multi-Modal imaging of torpedo maculopathy

TNOA Journal of Ophthalmic Science and Research, 2023
Arthi Mohankumar, Roshni Mohan
doaj   +2 more sources

Abnormal electrophysiology in a case of torpedo maculopathy

Kerala Journal of Ophthalmology, 2021
Torpedo maculopathy is an uncommon, often isolated retinal finding reported in literature. We report a case of torpedo maculopathy with nystagmus and abnormal electroretinogram findings with an abnormal mutation in a child.
Manoj Soman, Akshaya Ashok, Ashwin Mohan, Unnikrishnan Nair   +3 more
doaj   +1 more source

Serous business: delineating the broad spectrum of diseases with subretinal fluid in the macula [PDF]

, 2021
A wide range of ocular diseases can present with serous subretinal fluid in the macula and therefore clinically mimic central serous chorioretinopathy (CSC).
Boon, C.J.F., Dijk, E.H.C. van
core   +2 more sources

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns [PDF]

, 2021
Purpose: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy.
Afawi, Z, Almanza Fuerte, EP, Andrade, DM, Balcik, Y, Ben Zeev, B, Bennett, MF, Berkovic, SF, Bertelsen, B, Bouman, A, Brilstra, E, Busk, ØL, Cairns, A, Caumes, R, Chatron, N, Dale, RC, de Geus, C, de Lange, I, Edery, P, Fenger, C, Gardella, E, Gill, D, Granild-Jensen, JB, Guerrini, R, Gunderson, L, Gunning, B, Hammer, TB, Heimer, G, Helle, JR, Hildebrand, MS, Hollingsworth, G, Isidor, B, Kharytonov, V, Klee, EW, Koeleman, BPC, Koolen, DA, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, RJ, Mackay, MT, Macke, EL, Mandelstam, S, Mau-Them, FT, McEntagart, M, Mefford, HC, Mohammad, SS, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, AM, Myers, CT, Møller, RS, Parrini, E, Patel, C, Procopis, P, Ranza, E, Reed, L, Reif, PS, Rosenow, F, Rossi, M, Sadleir, LG, Sadoway, T, Scheffer, IE, Schelhaas, HJ, Schneider, AL, Shah, K, Shalev, R, Sisodiya, SM, Smol, T, Stamberger, H, Stumpel, CTRM, Stuurman, K, Symonds, JD, Verbeek, N, Verhoeven, JS, Vlaskamp, DRM, Wallace, G, Yosovich, K, Zarate, YA, Zerem, A, Zhang, J, Zhang, Y-H, Zuberi, SM   +84 more
core   +4 more sources

Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development [PDF]

, 2023
Photoreceptor development of the vertebrate visual system is controlled by a complex transcription regulatory network. OTX2 is expressed in the mitotic retinal progenitor cells (RPCs) and controls photoreceptor genesis.
Chen, Shiming, Sun, Chi
core   +5 more sources

Stellate multiform amelanotic choroidopathy: clinical and multimodal imaging features [PDF]

, 2023
Purpose:To describe the clinical and multimodal imaging features of stellate multiform amelanotic choroidopathy (SMACH; also known as serous maculopathy due to aspecific choroidopathy).Methods:Retrospective observational case series of eyes presenting ...
Boon, C.J.F., Cicinelli, M.V., Cohen, S.Y., Dijk, E.H.C. van, Freund, K.B., Jampol, L., Marchese, A., Mein, C.E., Mein, L., Miserocchi, E., Mrejen, S., Mundae, R., Ober, M.D., Pellegrini, M., Pichi, F., Preziosa, C., Ramtohul, P., Rofagha, S., Souza, E.C. de   +18 more
core   +2 more sources

Quantitative Optical Coherence Tomography Angiography Detects Retinal Perfusion Changes in Carotid Artery Stenosis [PDF]

, 2021
BackgroundCarotid artery stenosis (CAS) is a multifaceted disease characterized by possible ocular involvement. Treatment with carotid endarterectomy helps to restore cerebral perfusion, which may prevent ocular and cerebral complications.
Aragona, Emanuela, Arrigo, Alessandro, Bandello, Francesco, Castellano, Renata, Catenaccio, Barbara, Chiesa, Roberto, De Crescenzo, Michele, Pierro, Luisa   +7 more
core   +1 more source

Torpedo Maculopathy

Ophthalmology Reports, 2013
Based on literature data and own clinical experience this article summarizes the clinical findings on Torpedo maculopathy. The author of the present article hopes that these materials could help ophthalmologists in practice in diagnosing this disease.
Salomon Cohen, Lise Dubois
openaire   +3 more sources

Distribution patterns of torpedo maculopathy: Further evidence of a congenital retinal nerve fiber layer-driven etiology. [PDF]

Saudi J Ophthalmol, 2019
Williams PJ, Salek S, Prinzi RA, Bergstrom C, Hubbard GB.   +4 more
europepmc   +2 more sources

Torpedo maculopathy: disease spectrum and associated choroidal neovascularisation in a paediatric population. [PDF]

Eye (Lond), 2018
Shirley K, O'Neill M, Gamble R, Ramsey A, McLoone E.   +4 more
europepmc   +2 more sources