Results 121 to 130 of about 264,225 (169)

Deep Learning for Diagnosis of Choroideremia and <i>USH2A</i>-Associated Rod-Cone Dystrophy Using Macular OCT Volumes. [PDF]

Ophthalmol Sci
Mairot K, Meunier I, Bocquet B, Stolowy N, Ramtohul P, Zanlonghi X, Denis D, David T, Matonti F, Perrinet LU.   +9 more
europepmc   +1 more source

USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy. [PDF]

Invest Ophthalmol Vis Sci
Ashworth KE, Zhang J, D'Amata C, Héon E, Ballios BG.   +4 more
europepmc   +1 more source

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report. [PDF]

Cureus
Varghese DE, Sudhakar S.
europepmc   +1 more source

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. [PDF]

Ophthalmic Genet, 2021
Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK.   +6 more
europepmc   +1 more source

Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant. [PDF]

Doc Ophthalmol
Barboni M, Jávorszky E, Quinodoz M, Han JH, Resch M, Nagy ZZ, Rivolta C, Tory K, Szabó V.   +8 more
europepmc   +1 more source

Rod-Cone Dystrophy Related WDR34 Is Essential for Ciliary Integrity and Survival of Mammalian Photoreceptor Cells. [PDF]

Invest Ophthalmol Vis Sci
Zou R, Cai J, Fan L, Liu L, Chen C, Chen G, Yang X, Sun K, Zhu X.   +8 more
europepmc   +1 more source

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy. [PDF]

Int J Mol Sci, 2021
Zeitz C, Méjécase C, Michiels C, Condroyer C, Wohlschlegel J, Foussard M, Antonio A, Démontant V, Emmenegger L, Schalk A, Neuillé M, Orhan E, Augustin S, Bonnet C, Estivalet A, Blond F, Blanchard S, Andrieu C, Chantot-Bastaraud S, Léveillard T, Mohand-Saïd S, Sahel JA, Audo I.   +22 more
europepmc   +1 more source

The molecular genetics of cone-rod retinal dystrophy

, 1994
Genetic eye disease is an important and common cause of blindness in the developed World. The choroidoretinal dystrophies make up a significant proportion of this group of conditions.
Evans, Kevin
core  

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

Retin Cases Brief Rep
Zhang J, de Guimaraes TAC, Thompson D, Michaelides M.   +3 more
europepmc   +1 more source

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. [PDF]

Int J Mol Sci, 2021
Biasi A, Marino V, Dal Cortivo G, Maltese PE, Modarelli AM, Bertelli M, Colombo L, Dell'Orco D.   +7 more
europepmc   +1 more source