Results 41 to 50 of about 10,766 (232)

Treatment Of Hereditary Retinal Dystrophies. Perspectives And Social Aspects

, 2020
Introduction: Hereditary retinal dystrophies are a heterogeneous group of diseases with a relatively low frequency in the human population, characterized by involvement of different retinal layers, most often the complex retinal pigment epithelium ...
Mermeklieva, E.; Clinic of Ophthalmology, Lozenetz University Hospital, Medical Faculty, Sofia University “Sv. Kliment Ohridski” – Sofia
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Gene therapy for inherited retinal dystrophies.

, 2023
Inherited retinal dystrophies are a group of relatively rare genetic disorders that cause progressive degeneration of the retina, leading to vision loss, which causes lots of difficulties and challenges to patients in everyday life.
Kobeckis, Kamilis,
core  

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B., Rizzi, M, Nishiguchi, KM, James W. B. Bainbridge, Kate Powell, Joana Ribeiro, Duran, Y, Ribeiro, J, Powell, K, Luhmann, UF, Azam, Selina A., Yanai Duran, Rizzi, Matteo, Livia S. Carvalho, Smith, Alexander J., Holthaus, Sophia Martha Kleine, Robin R. Ali, Ulrich F. O. Luhmann, Carvalho, Livia S., Er J. Smith, Koji M. Nishiguchi, Powell, Kate, Matteo Rizzi, Selina A. Azam, Carvalho, LS, Ali, RR, Holthaus, SM, Sophia-martha Kleine Holthaus, Bainbridge, JW, Ali, Robin R.; id_orcid, Luhmann, Ulrich F.O., Duran, Yanai, Azam, SA, Ribeiro, Joana, Smith, AJ, Nishiguchi, Koji M.   +35 more
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Efficacy of topical brinzolamide in children with retinal dystrophies

, 2019
Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies ...
Pfeifer, Wanda, Chen, Constance V, Scruggs, Brittni A, Wiley, Jill S, Wang, Kai, Drack, Arlene V   +5 more
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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

Novel AAV capsids for intravitreal gene therapy of photoreceptor disorders

EMBO Molecular Medicine, 2021
Gene therapy using recombinant adeno‐associated virus (rAAV) vectors to treat blinding retinal dystrophies has become clinical reality. Therapeutically impactful targeting of photoreceptors still relies on subretinal vector delivery, which detaches the ...
Marina Pavlou, Christian Schön, Laurence M Occelli, Axel Rossi, Nadja Meumann, Ryan F Boyd, Joshua T Bartoe, Jakob Siedlecki, Maximilian J Gerhardt, Sabrina Babutzka, Jacqueline Bogedein, Johanna E Wagner, Siegfried G Priglinger, Martin Biel, Simon M Petersen‐Jones, Hildegard Büning, Stylianos Michalakis   +16 more
doaj   +1 more source

CRB1 mutation spectrum in inherited retinal dystrophies.

, 2004
Contains fulltext : 57334.pdf (Publisher’s version ) (Open Access)Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa ...
Roepman, R, Koenekoop, RK, Heckenlively, J.R., Cremers, F.P.M., Zonneveld, MN, Hoyng, C.B., Davis, J., Born, L.I. van den, Heckenlively, JR, den Hollander, AI, Pierrottet, CO, Hoyng, CB, Koenekoop, R.K., Velde-Visser, S.D. van der, Pierrottet, C.O., Roepman, R., Kellner, U., Davis, J, Cremers, FP, Zonneveld-Vrieling, M.N., Handford, P.A., van der Velde-Visser, SD, Kellner, U, Handford, Penelope, Hollander, A.I. den, van den Born, LI   +25 more
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Misfolded Proteins and Retinal Dystrophies [PDF]

, 2009
Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death by activating the Unfolded Protein Response, a set of conserved intracellular signaling pathways that detect protein misfolding within the endoplasmic reticulum
Jonathan H, Lin, Matthew M, Lavail
openaire   +2 more sources

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

Study of Frequency and Nosology of Clinical Varieties of Retinal Dystrophies in Children and Adolescents

Oftalʹmologiâ, 2023
Background. Particular vigilance in timely detection of retinal dystrophies (RD) in children is necessary as effective measure to prevent formation of rhegmatogenous retinal detachment. Purpose. To study frequency and structure of clinical forms of RD in
O. V. Kolenko, E. L. Sorokin, A. V. Sergeeva   +2 more
doaj   +1 more source