Results 11 to 20 of about 431,670 (160)

Unilateral retinitis pigmentosa and cone-rod dystrophy

Clinical Ophthalmology, 2009
Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj   +1 more source

WDR34, a candidate gene for non-syndromic rod-cone dystrophy. [PDF]

Clin Genet, 2021
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss.
Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C.   +22 more
europepmc   +3 more sources

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Clinical Ophthalmology, 2013
Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory ...
Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y   +5 more
doaj   +1 more source

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY. [PDF]

Retin Cases Brief Rep
PURPOSE: To report a patient with Shwachman-Diamond syndrome and concomitant rod-cone dystrophy who underwent bone marrow transplantation. METHODS: Retrospective single case report.
Zhang J, de Guimaraes TAC, Thompson D, Michaelides M.   +3 more
europepmc   +3 more sources

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Orphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang   +15 more
doaj   +1 more source

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. [PDF]

PLoS ONE, 2016
GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous
Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz   +15 more
doaj   +1 more source

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

EBioMedicine, 2021
Inherited retinal diseases (IRDs) were first classified clinically by history, ophthalmoscopic appearance, type of visual field defects, and electroretinography (ERG).
Alexandra V. Garafalo, Rebecca Sheplock, Alexander Sumaroka, Alejandro J. Roman, Artur V. Cideciyan, Samuel G. Jacobson   +5 more
doaj   +1 more source

Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy. [PDF]

Int J Mol Sci, 2020
Retinitis pigmentosa (RP) is a generic term for a group of genetic diseases characterized by loss of rod and cone photoreceptor cells. Although the genetic causes of RP frequently only affect the rod photoreceptor cells, cone photoreceptors become ...
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE.   +5 more
europepmc   +2 more sources

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Scientific Reports, 2022
Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of ...
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra   +15 more
doaj   +1 more source

The origins of the full-field flash electroretinogram b-wave

Frontiers in Molecular Neuroscience, 2023
The electroretinogram (ERG) measures the electrical activity of retinal neurons and glial cells in response to a light stimulus. Amongst other techniques, clinicians utilize the ERG to diagnose various eye diseases, including inherited conditions such as
Yashvi Bhatt, Yashvi Bhatt, David M. Hunt, David M. Hunt, Livia S. Carvalho, Livia S. Carvalho   +5 more
doaj   +1 more source