Results 41 to 50 of about 10,452 (214)

ISOLATED MACULOPATHY AND MODERATE ROD–CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM

, 2021
Purpose: To describe an isolated maculopathy and an intermediate rod-cone dystrophy phenotype as the milder end of the RDH12-related retinal dystrophy spectrum.
Elfride De Baere, De Baere, Elfride, De Bruyne, Marieke, Mattias Van Heetvelde, Frauke Coppieters, Van Heetvelde, Mattias, Van Cauwenbergh, Caroline, Caroline Van Cauwenbergh, Marieke De Bruyne, Coppieters, Frauke, De Zaeytijd, Julie, Bart P. Leroy, Leroy, Bart, Julie De Zaeytijd   +13 more
core   +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

CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability

Frontiers in Ophthalmology
IntroductionTo report a Japanese family with inherited retinal dystrophy (IRD) in which CDHR1 variants were identified, and to characterize the marked intrafamilial phenotypic variability.MethodsThis retrospective case series included three brothers ...
Toshiaki Hirakata, Dan Gao, Minami Oshima, Fumihiro Hara, Shintaro Nakao, Akira Murakami   +5 more
doaj   +1 more source

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
van Wijk, Erwin, van den Born, L. Ingeborgh, Neveling, Kornelia, Roosing, Susanne, Ueffing, Marius, van Beersum, Sylvia E.C., de Baere, Elfride, Lamers, Ideke J.C., Coppieters, Frauke, Arts, Heleen H., de Vrieze, Erik, Klaver, Caroline C.W., Kremer, Hannie, Lugtenberg, Dorien, Hetterschijt, Lisette, Peters, Theo A., Zonneveld-Vrieling, Marijke N., Letteboer, Stef J.F., Boldt, Karsten, Lambertus, Stanley, Koolen, David A., van Reeuwijk, Jeroen, Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I., Roepman, Ronald   +25 more
core   +2 more sources

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

A new genetic locus for X linked progressive cone-rod dystrophy. [PDF]

, 2003
X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have been previously identified.
Jalkanen, R;Demirci, FY;Tyynismaa, H;Bech-Hansen, T;Meindl, A;Peippo, M;Mäntyjärvi, M;Gorin, MB;Alitalo, T
core   +2 more sources

Minocycline and bone marrow–derived mononuclear cells as potential therapeutics for hereditary retinal degenerations

Acta Ophthalmologica, EarlyView.
Abstract Purpose To assess in Royal College of Surgeons (RCS) rats if the combination of two previously documented neuroprotective strategies: minocycline administration and bone marrow–derived mononuclear cells (BM‐MNCs) intravitreal transplantation, offers enhanced neuroprotection compared with each treatment alone.
Alba Videla‐Ristol, Ana Martínez‐Vacas, David García‐Bernal, Manuel Vidal‐Sanz, María Paz Villegas‐Pérez, Diego García‐Ayuso, Johnny Di Pierdomenico   +6 more
wiley   +1 more source

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Journal of Ophthalmic & Vision Research, 2020
Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP
Hamideh Sabbaghi, Hamid Ahmadieh, Jalil Jalili, Nazanin Behnaz, Maryam Fakhri, Fatemeh Suri, Bahareh Kheiri, Mojtaba Rajabpour, Morteza Entezari, Narsis Daftarian   +9 more
doaj   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Phenotypic characteristics of rod-cone dystrophy associated with MYO7A mutations in a large french cohort

, 2020
PURPOSE: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. METHODS: Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive ...
José-Alain Sahel, Petit, Christine, Condroyer, Christel, Marco Nassisi, Christina Zeitz, Antonio, Aline, Bodaghi, Bahram, Roux, Anne-Françoise, Zeitz, Christina, Devisme, Céline, Camille Andrieu, Bahram Bodaghi, Saddek Mohand-Saïd, Natalie Loundon, Khateb, Samer, Christel Condroyer, Nassisi, Marco, Aline Antonio, Isabelle Audo, Marlin, Sandrine, Mohand-Saïd, Saddek, Céline Devisme, Sandrine Marlin, Andrieu, Camille, Loundon, Natalie, Bonnet, Crystel, Anne-Françoise Roux, Audo, Isabelle, Samer Khateb, Christine Petit, Sahel, José-Alain, Crystel Bonnet   +31 more
core   +1 more source