Results 41 to 50 of about 27,235 (216)

Posterior polar annular and hemispheric choroidal and retinal dystrophy: Optical coherence tomographic angiography description of a rare case

Indian Journal of Ophthalmology, 2018
Posterior polar annual choroidal dystrophy is a rare disease which affects the retina and choroid in an annular pattern. Our patient was referred to us a case of atypical retinitis pigmentosa.
Raja Narayanan
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Scanning Laser Ophthalmoscopy Retromode Imaging Compared to Fundus Autofluorescence in Detecting Outer Retinal Features in Central Serous Chorioretinopathy

Diagnostics, 2022
Central serous chorioretinopathy (CSCR) is a retinal disease characterized by a heterogeneous clinical phenotype, depending on the influence of different factors in its pathogenesis, including the presence of subretinal fluid (SRF), trophism of the ...
Fabrizio Giansanti, Stefano Mercuri, Federica Serino, Tomaso Caporossi, Alfonso Savastano, Clara Rizzo, Francesco Faraldi, Stanislao Rizzo, Daniela Bacherini   +8 more
doaj   +1 more source

The Molecular Basis of Retinal Dystrophies in Pakistan [PDF]

Genes, 2014
The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies, homozygosity mapping has been shown to be successful in mapping susceptibility loci for autosomal recessive inherited disease.
Khan, M.I., Azam, M., Azam, M., Ajmal, M., Collin, R.W.J., Collin, R.W.J., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., den Hollander, A.I., Cremers, F.P.M., Cremers, F.P.M., Qamar, R.   +14 more
openaire   +3 more sources

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Cone–Rod Dystrophy PCARE-Associated Retinopathy

Diagnostics
Background and Clinical Significance: Biallelic pathogenic variants in the PCARE gene (photoreceptor cilium actin regulator), also known as C2orf71 (chromosome 2 open reading frame 71), are typically associated with retinitis pigmentosa type 54 (RP54 ...
Maria Sopena-Pinilla, Maria Arruebo-Muñio, Marta Arias-Alvarez, Maria Arcas-Carbonell, Pablo Tejada-González, Carmen Lahuerta-Pueyo, Diana Pérez García, Isabel Pinilla   +7 more
doaj   +1 more source

Best vitelliform macular dystrophy in a large Brazilian family

International Journal of Retina and Vitreous, 2019
Background To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy. Methods A retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography,
Carolina Pádua Rocha de Souza, Luiz Guilherme Marchesi Mello, Fernando Gomez, Eduardo Morizot   +3 more
doaj   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source