Search Results - "Heon, Elise"

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives by Garafalo, Alexandra V., Cideciyan, Artur V., Héon, Elise, Sheplock, Rebecca, Pearson, Alexander, WeiYang Yu, Caberry, Sumaroka, Alexander, Aguirre, Gustavo D., Jacobson, Samuel G.

“…Due to improved phenotyping and genetic characterization, the field of ‘incurable’ and ‘blinding’ inherited retinal diseases (IRDs) has moved substantially…”
Get full text

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness by Jacobson, Samuel G, Cideciyan, Artur V, Roman, Alejandro J, Sumaroka, Alexander, Schwartz, Sharon B, Heon, Elise, Hauswirth, William W

“…A long-term study, conducted over approximately 5.5 years, involving three patients treated with gene therapy for Leber's congenital amaurosis shows that…”
Get full text

Introducing Artur V. Cideciyan and Samuel G. Jacobson, the 2018 Recipients of the Proctor Medal by Héon, Elise, Aguirre, Gustavo D

Get full text

Optical Coherence Tomography–Guided Decisions in Retinoblastoma Management by Soliman, Sameh E., MD, VandenHoven, Cynthia, BAA, CRA, MacKeen, Leslie D., Bsc, Héon, Elise, MD, FRCSC, Gallie, Brenda L., MD, FRCSC

“…Purpose Assess the role of handheld optical coherence tomography (OCT) in guiding management decisions during diagnosis, treatment, and follow-up of eyes…”
Get full text

Therapies for Inherited Retinal Dystrophies: What is Enough? by Leroy, Bart P., Daly, Avril, Héon, Elise, Sahel, José-Alain, Dollfus, Hélène

“…•IRDs affect over 4M people worldwide, leading to blindness and high societal cost•Despite a diversity of therapeutic approaches, many CTs have been abruptly…”
Get full text

Prenatal versus Postnatal Screening for Familial Retinoblastoma by Soliman, Sameh E., MD, Dimaras, Helen, PhD, Khetan, Vikas, MBBS, MD, Gardiner, Jane A., MD, Chan, Helen S.L., MB, BS, Héon, Elise, MD, Gallie, Brenda L., MD

“…Purpose To compare overall outcomes of conventional postnatal screening of familial retinoblastoma and prenatal RB1 mutation identification followed by planned…”
Get full text

Characterization of Retinal Structure in ATF6-Associated Achromatopsia by Mastey, Rebecca R, Georgiou, Michalis, Langlo, Christopher S, Kalitzeos, Angelos, Patterson, Emily J, Kane, Thomas, Singh, Navjit, Vincent, Ajoy, Moore, Anthony T, Tsang, Stephen H, Lin, Jonathan H, Young, Marielle P, Hartnett, M Elizabeth, Héon, Elise, Kohl, Susanne, Michaelides, Michel, Carroll, Joseph

“…Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be…”
Get full text

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome by Dhanraj, Santhosh, Matveev, Anna, Li, Hongbing, Lauhasurayotin, Supanun, Jardine, Lawrence, Cada, Michaela, Zlateska, Bozana, Tailor, Chetankumar S., Zhou, Joseph, Mendoza-Londono, Roberto, Vincent, Ajoy, Durie, Peter R., Scherer, Stephen W., Rommens, Johanna M., Heon, Elise, Dror, Yigal

“…Abstract There is an Inside Blood Commentary on this article in this issue…”
Get full text

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin by Rezaie, Tayebeh, Child, Anne, Hitchings, Roger, Brice, Glen, Miller, Lauri, Coca-Prados, Miguel, Héon, Elise, Krupin, Theodore, Ritch, Robert, Kreutzer, Donald, Crick, R. Pitts, Sarfarazi, Mansoor

“…Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal…”
Get full text

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction by Stingl, Katarina, Baumann, Britta, De Angeli, Pietro, Vincent, Ajoy, Héon, Elise, Cordonnier, Monique, De Baere, Elfriede, Raskin, Salmo, Sato, Mario Teruo, Shiokawa, Naoye, Kohl, Susanne, Wissinger, Bernd

“…Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone…”
Get full text

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1 by Monemi, Sharareh, Spaeth, George, DaSilva, Alexander, Popinchalk, Samuel, Ilitchev, Elena, Liebmann, Jeffrey, Ritch, Robert, Héon, Elise, Crick, Ronald Pitts, Child, Anne, Sarfarazi, Mansoor

“…Glaucoma is a leading cause of blindness in virtually every country. Development of an accurate diagnostic test for presymptomatic detection of individuals at…”
Get full text

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure by Guziewicz, Karina E., Cideciyan, Artur V., Beltran, William A., Komáromy, András M., Dufour, Valerie L., Swider, Malgorzata, Iwabe, Simone, Sumaroka, Alexander, Kendrick, Brian T., Ruthel, Gordon, Chiodo, Vince A., Héon, Elise, Hauswirth, William W., Jacobson, Samuel G., Aguirre, Gustavo D.

“…Mutations in the BEST1 gene cause detachment of the retina and degeneration of photoreceptor (PR) cells due to a primary channelopathy in the neighboring…”
Get full text

Healthcare recommendations for Joubert syndrome by Bachmann‐Gagescu, Ruxandra, Dempsey, Jennifer C., Bulgheroni, Sara, Chen, Maida L., D'Arrigo, Stefano, Glass, Ian A., Heller, Theo, Héon, Elise, Hildebrandt, Friedhelm, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y., Mack, Stephen H., Nuovo, Sara, Parisi, Melissa A., Snow, Joseph, Summers, Angela C., Symons, Jordan M., Zein, Wadih M., Boltshauser, Eugen, Sayer, John A., Gunay‐Aygun, Meral, Valente, Enza Maria, Doherty, Dan

“…Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain…”
Get full text

Visual Function and Central Retinal Structure in Choroideremia by Heon, Elise, Alabduljalil, Talal, McGuigan III, David B, Cideciyan, Artur V, Li, Shuning, Chen, Shiyi, Jacobson, Samuel G

“…To define the clinical phenotype of a cohort of patients affected with choroideremia. A retrospective study of patients with choroideremia included two…”
Get full text

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants by Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R

“…Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A…”
Get full text

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum by Taylan, Fulya, Costantini, Alice, Coles, Nicole, Pekkinen, Minna, Héon, Elise, Şıklar, Zeynep, Berberoğlu, Merih, Kämpe, Anders, Kıykım, Ertuğrul, Grigelioniene, Giedre, Tüysüz, Beyhan, Mäkitie, Outi

“…ABSTRACT Spondyloocular syndrome is an autosomal‐recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding…”
Get full text

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations by Robitaille, Johane M, Gillett, Roxanne M, LeBlanc, Marissa A, Gaston, Daniel, Nightingale, Mathew, Mackley, Michael P, Parkash, Sandhya, Hathaway, Julie, Thomas, Aidan, Ells, Anna, Traboulsi, Elias I, Héon, Elise, Roy, Mélanie, Shalev, Stavit, Fernandez, Conrad V, MacGillivray, Christine, Wallace, Karin, Fahiminiya, Somayyeh, Majewski, Jacek, McMaster, Christopher R, Bedard, Karen

“…Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations…”
Get more information

Achromatopsia mutations target sequential steps of ATF6 activation by Chiang, Wei-Chieh, Chan, Priscilla, Wissinger, Bernd, Vincent, Ajoy, Skorczyk-Werner, Anna, Krawczyński, Maciej R., Kaufman, Randal J., Tsang, Stephen H., Héon, Elise, Kohl, Susanne, Lin, Jonathan H.

“…Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor dysfunction. We recently identified activating transcription factor 6…”
Get full text

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization by Di Scipio, Matteo, Tavares, Erika, Deshmukh, Shriya, Audo, Isabelle, Green-Sanderson, Kit, Zubak, Yuliya, Zine-Eddine, Fayçal, Pearson, Alexander, Vig, Anjali, Tang, Chen Yu, Mollica, Antonio, Karas, Jonathan, Tumber, Anupreet, Yu, Caberry W, Billingsley, Gail, Wilson, Michael D, Zeitz, Christina, Héon, Elise, Vincent, Ajoy

“…To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic…”
Get full text

Gene therapy: perspectives from young adults with Leber’s congenital amaurosis by Napier, Melanie P., Selvan, Kavin, Hayeems, Robin Z., Shuman, Cheryl, Chitayat, David, Sutherland, Joanne E., Day, Megan A., Héon, Elise

“…Aims/purpose To investigate Leber congenital amaurosis (LCA) patients’ expectations, decision-making processes and gene therapy-related concerns. Methods Using…”
Get full text