Results 111 to 120 of about 264,225 (169)

Unilateral focal choroidal excavation in cone dystrophy. [PDF]

BMJ Case Rep, 2021
Belenje A, Takkar B, Narayanan R, Jalali S.   +3 more
europepmc   +1 more source

CNGB1-related rod-cone dystrophy: A mutation review and update. [PDF]

Hum Mutat, 2021
Nassisi M, Smirnov VM, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I.   +33 more
europepmc   +1 more source

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15. [PDF]

Genes (Basel), 2021
Hadalin V, Šuštar M, Volk M, Maver A, Sajovic J, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A.   +8 more
europepmc   +1 more source

Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins. [PDF]

FASEB J, 2021
Zhu P, Dyka F, Ma X, Yin L, Yu H, Baehr W, Hauswirth WW, Deng WT.   +7 more
europepmc   +1 more source

Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes

, 2020
Cone rod dystrophy is a rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance.
Jean-Philippe Woillez
core  

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy. [PDF]

Transl Vis Sci Technol, 2021
Roshandel D, Heath Jeffery RC, Charng J, Sampson DM, McLenachan S, Mackey DA, Chen FK.   +6 more
europepmc   +1 more source

The genetics of rod-cone dystrophy in Arab countries: a systematic review. [PDF]

Eur J Hum Genet, 2021
Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh S.   +5 more
europepmc   +1 more source

Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Abdalla Elsayed MEA, Mahroo OA, Webster A, Tsang SH, Marques JP, Traboulsi E, Tan TE, Boon CJF, de la Camara CM, Fenner BJ, Barone V, Dollfus H, MacLaren RE.   +12 more
europepmc   +1 more source

A spontaneous nonhuman primate model of inherited retinal degeneration

JCI Insight
Inherited retinal degenerations (IRDs) are important causes of progressive, irreversible blindness. Hereditary macular diseases, in particular, are significant in their effect on the specialized, central cone photoreceptor–rich macula responsible for ...
Wei Yi, Mingming Xu, Ying Xue, Yingxue Cao, Ziqi Yang, Lingli Zhou, Yang Zhou, Le Shi, Xiaomei Mai, Zehui Sun, Wenjie Qing, Yuying Li, Aolun Qing, Kaiwen Zhang, Lechun Ou, Shoudeng Chen, Elia J. Duh, Xialin Liu   +17 more
doaj   +1 more source

Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family. [PDF]

Mol Genet Genomic Med, 2021
Liu M, Zhu Y, Huang L, Jiang W, Wu N, Song Y, Lu Y, Ma Y.   +7 more
europepmc   +1 more source