Results 31 to 40 of about 37,333 (227)

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

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene

Frontiers in Cell and Developmental Biology, 2021
Purpose:ARL3 (ADP-ribosylation factor-like 3) variants cause autosomal dominant retinitis pigmentosa (RP) or autosomal recessive Joubert syndrome. We found a family with rod-cone dystrophy (RCD) and verified it was associated with compound heterozygous ...
Leming Fu, Ya Li, Shun Yao, Qingge Guo, Ya You, Xianjun Zhu, Bo Lei, Bo Lei   +7 more
doaj   +1 more source

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

Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

eLife, 2021
The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy ...
Domino K Schlegel, Srinivasagan Ramkumar, Johannes von Lintig, Stephan CF Neuhauss   +3 more
doaj   +1 more source

A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e

Frontiers in Molecular Neuroscience, 2023
During routine screening of mouse strains and stocks by the Eye Mutant Resource at The Jackson Laboratory for genetic mouse models of human ocular disorders, we identified cpfl9, a mouse model with cone photoreceptor function loss.
Anna S. E. N. Naggert, Gayle B. Collin, Jieping Wang, Mark P. Krebs, Bo Chang   +4 more
doaj   +1 more source

Cone rod dystrophies [PDF]

Orphanet Journal of Rare Diseases, 2007
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (
openaire   +3 more sources

Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia

Clinical and Experimental Optometry, EarlyView., 2020
Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood, Jasleen K Jolly, Colm D Andrews, Iain R Wilson, Doron Hickey, Jasmina Cehajic‐Kapetanovic, Robert E MacLaren   +6 more
wiley   +1 more source