Results 31 to 40 of about 4,867,114 (192)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

BMC Ophthalmology, 2021
Background We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX.
Saoud Al-Khuzaei, Karl A. Z. Hudspith, Suzanne Broadgate, Morag E. Shanks, Penny Clouston, Andrea H. Németh, Stephanie Halford, Susan M. Downes   +7 more
doaj   +1 more source

Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes

Diagnostics, 2023
(1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists.
Tien-En Tan, Rachael Wei Chao Tang, Choi Mun Chan, Ranjana S. Mathur, Beau J. Fenner   +4 more
doaj   +1 more source

Stem Cell Ophthalmology Treatment Study (SCOTS): Bone Marrow-Derived Stem Cells in the Treatment of Stargardt Disease

Medicines, 2021
Background: Stargardt Disease is the most common inherited macular degeneration, typically resulting in progressive central vision loss and legal blindness at an early age.
Jeffrey N. Weiss, Steven Levy
doaj   +1 more source

Swept-source optical coherence tomography study of choroidal morphology in Stargardt disease

Oman Journal of Ophthalmology, 2018
BACKGROUND:Stargardt disease, a juvenile retinal dystrophy, may show secondary changes in the choroid which may have importance while considering future treatments such as stem cell transplant.
Dhanashree Ratra, Durgasri Jaishankar, Ramya Sachidanandam, Hatim Yusufali, Vineet Ratra   +4 more
doaj   +1 more source

RETINAL FLECKS IN STARGARDT DISEASE REVEAL CHARACTERISTIC FLUORESCENCE LIFETIME TRANSITION OVER TIME. [PDF]

, 2019
PURPOSE Stargardt disease is the most common inherited juvenile macular dystrophy and is characterized by yellowish flecks across the posterior pole.
Martin S. Zinkernagel, Dysli, Chantal, Sebastian Wolf, Yasmin Solberg, Solberg, Yasmin, Berger, Lisa, Zinkernagel, Martin, Lisa Berger, Chantal Dysli, Escher, Pascal, Pascal Escher, Wolf, Sebastian   +11 more
core   +2 more sources

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations [PDF]

, 2010
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core   +1 more source

Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Eye and Vision, 2020
Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and ...
Rajendran Kadarkarai Raj, Pankaja Dhoble, Rupa Anjanamurthy, Prakash Chermakani, Manojkumar Kumaran, Bharanidharan Devarajan, Periasamy Sundaresan   +6 more
doaj   +1 more source

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients

Molecular Therapy: Nucleic Acids, 2023
Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology.
Laura Siles, Sheila Ruiz-Nogales, Arnau Navinés-Ferrer, Pilar Méndez-Vendrell, Esther Pomares   +4 more
doaj   +1 more source

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
core   +1 more source

SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE

Сибирский научный медицинский журнал, 2019
Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods.
N. L. Sheremet, I. G. Grushke, N. V. Zhorzholadze, I. A. Ronzina, A. A. Mikaelyan, S. A. Kurbatov, V. V. Kadyshev, K. I. Anoshkin, V. V. Strelnikov   +8 more
doaj   +1 more source