Results 21 to 30 of about 4,861,001 (122)

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
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Nodular Scleritis with Stargardt’s Disease: A Rare Case Report

MAMC Journal of Medical Sciences, 2017
A 30-year-old female presented with recurrent red, painful right eye. Ocular examination revealed nodular scleritis and on complete workup, tuberculosis was found to be the causative agent.
Anubhav Chauhan, Lalit Gupta
doaj   +1 more source

Postural data from Stargardt's syndrome patients [PDF]

, 2020
The database is a collection of postural data acquired from 10 patients affected by the rare Stargardt's syndrome, all having the ABCA4 gene mutation, and from 10 control healthy subjects.
Agostini V., Sbrollini A., Cavallini C., Burattini L., Knaflitz M.   +4 more
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Stargardt's Disease (Fundus Flavimaculatus) [PDF]

, 2016
Background: Stargardt's Disease is included in the group of degenerative macular diseases, which consists of the progressive loss of cones in fovea of both eyes, leading to variable levels of central vision loss.
Grezda, Arjeta, Boçi, Besim, Simaku, Ermal   +2 more
core   +1 more source

Prospects for the diagnosis and gene therapy of inherited retinal dystrophies caused by biallelic mutations in the RPE65 gene

Российский офтальмологический журнал, 2021
Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development of gene therapy, a new era in the treatment of hereditary  human diseases has opened.
V. V. Neroev, L. A. Katargina, V. V. Kadyshev, I. V. Zolnikova, S. I. Kutsev   +4 more
doaj   +1 more source

Optical coherence tomography aspects of Stargardt's disease: case report [PDF]

, 2006
The term fundus flavimaculatus (Stargardt disease) describes a group of inherited macular dystrophies characterized by multiple yellow to yellow-white flecks at the level of the retinal pigment epithelium.
Morales, Maira Saad De Ávila [UNIFESP], Berezovsky, Adriana [UNIFESP], Guilherme Matte, Matte, Guilherme [UNIFESP], Sallum, Juliana Maria Ferraz [UNIFESP], Allemann, Norma [UNIFESP], Norma Allemann, Juliana Maria Ferraz Sallum, Enéias Bezerra Gouveia, Adriana Berezovsky, Gouveia, Enéias Bezerra [UNIFESP], Maira Saad de Ávila Morales   +11 more
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Host genetic and epigenetic factors in toxoplasmosis

Memorias do Instituto Oswaldo Cruz, 2009
Analysing human genetic variation provides a powerful tool in understanding risk factors for disease. Toxoplasma gondii acquired by the mother can be transmitted to the fetus.
Sarra E Jamieson, Heather Cordell, Eskild Petersen, Rima McLeod, Ruth E Gilbert, Jenefer M Blackwell   +5 more
doaj   +1 more source

Stargardt's disease: A case report

, 2022
Stargardt's disease is a bilateral symmetrical and progressive macular dystrophy that is transmitted in autosomal recessive or dominant pattern. It usually starts between the ages of6 and 20 years and typically leads to a rapid loss ofcentral vision. The
Chianakwalam , EA, Apakama , AI, Igboegwu , EE   +2 more
core  

Retinal Fundus Image Analysis for Diagnosis of Glaucoma: A Comprehensive Survey

IEEE Access, 2016
The rapid development of digital imaging and computer vision has increased the potential of using the image processing technologies in ophthalmology.
M. Caroline Viola Stella Mary, Elijah Blessing Rajsingh, Ganesh R. Naik   +2 more
doaj   +1 more source

Choroidal hyper-reflective foci and vascularity in retinal dystrophy

Indian Journal of Ophthalmology, 2020
Purpose: To investigate choroidal hyper-reflective foci (HRF) in subjects with retinal dystrophy [Stargardt's disease (SGD) and retinitis pigmentosa (RP)] and their association with demographics, visual acuity, choroidal thickness (CT), and choroidal ...
Daren Hanumunthadu, Mohammed Abdul Rasheed, Abhilash Goud, Arushi Gupta, Kiran Kumar Vupparaboina, Jay Chhablani   +5 more
doaj   +1 more source