Results 101 to 110 of about 37,333 (227)

Clinical Features of a Pediatric Case with Cone Dystrophy

Van Tıp Dergisi, 2018
The cone dystrophy is a nonhomogenous group of inherited and progressive retinal diseases that affects chiefly the cone system. It is frequently characterized by progressive loss of visual acuity, photophobia, central scotoma, color vision disturbances ...
Lokman Balyen, Tuncay Küsbeci
doaj   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population

Scientific Reports
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida   +11 more
doaj   +1 more source

Pathological and Electrophysiological Features of a Canine Cone–Rod Dystrophy in the Miniature Longhaired Dachshund [PDF]

, 2007
Clare Turney, Victor Chong, Robert Alexander, Chris R. Hogg, Lorraine Fleming, Deborah J. Flack, Keith C. Barnett, Alan C. Bird, Graham E. Holder, Philip J. Luthert   +9 more
openalex   +1 more source

Cone dystrophy with supernormal rod response [PDF]

, 2020
INSERM
openalex   +1 more source

Keratoconus and Cone-Rod Dystrophy among Brothers: Clinical Case Study and Genetic Analysis [PDF]

, 2019
Victoria Dimacali
openalex   +1 more source

Achondroplasia with macular coloboma and cone-rod dystrophy: a case report

, 2023
Randa Mohamed Abdel-Moneim El-Mofty, Mai M. I. Hassan   +1 more
openalex   +1 more source

Abnormal cone synapses in human cone-rod dystrophy

Ophthalmology, 1998
Little is known of the cytopathology of photoreceptors in human inherited retinal dystrophies that initially affect the central retina, including the macula. The current study sought to determine the cytologic features of dysfunctional cone and rod photoreceptors, as well as the pattern of degeneration of the cells in representative cases of central ...
K, Gregory-Evans, R N, Fariss, D E, Possin, C Y, Gregory-Evans, A H, Milam   +4 more
openaire   +2 more sources

Cone-Rod Dystrophy With Serpentine-like Retinal Deposits [PDF]

Archives of Ophthalmology, 1998
To describe the clinical and electrophysiologic findings in a novel retinal dystrophy.Ophthalmologic and electrophysiologic examinations were performed in 3 affected members of 1 family: a 10-year-old girl, her 30-year-old mother, and her 59-year-old maternal grandfather.
openaire   +2 more sources

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Scopelliti AJ, Jamieson RV, Barnes EH, Nash B, Rajagopalan S, Cornish EL, Grigg JR.   +6 more
europepmc   +1 more source

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice. [PDF]

Genes (Basel), 2023
García-Llorca A, Ólafsson KH, Sigurdsson AT, Eysteinsson T.   +3 more
europepmc   +1 more source