Results 101 to 110 of about 10,452 (214)

Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma. [PDF]

Front Med (Lausanne), 2023
Yang S, Li Y, Yang L, Guo Q, You Y, Lei B.   +5 more
europepmc   +1 more source

Keratoconus associated with cone-rod dystrophy

Asian Journal of Ophthalmology, 2015
Keratoconus is known to be associated with a variety of ocular and systemic disorders. The common posterior segment disorders known to be associated with keratoconus are retinitis pigmentosa, macular coloboma, Leber’s congenital amaurosis, retinal aplasia and retrolental fibroplasias.
openaire   +2 more sources

Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa

, 2000
Bibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin.
Goliath, René
core  

Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund.

, 2007
PURPOSE: To characterize the electrophysiological and histopathological features of a retinal degenerative disease in a colony of miniature longhaired dachshunds known to have a form of progressive retinal atrophy (PRA).
Flack, D, Hogg, CR, Barnett, KC, Bird, AC, Fleming, L, Holder, GE, Alexander, RA, Chong, NH, Turney, C, Luthert, PJ   +9 more
core   +1 more source

Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance. [PDF]

Front Genet, 2023
Li Z, Cheng W, Zi F, Wang J, Huang X, Sheng X, Rong W.   +6 more
europepmc   +1 more source

Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients

, 2013
Purpose: To analyze the outer retinal layers using spectral domain optical coherence tomography (SD-OCT) in patients with cone-rod dystrophy.Methods: The diagnosis of cone-rod dystrophy was determined by primary cone involvement or concomitant loss of ...
Sallum, Juliana Maria Ferraz [UNIFESP], Spaide, Richard F., Lima, Luiz Henrique Soares Goncalves de [UNIFESP]   +2 more
core   +1 more source

Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6. [PDF]

Mol Ther Methods Clin Dev, 2023
Mellen RW, Calabro KR, McCullough KT, Crosson SM, Cova A, Fajardo D, Xu E, Boye SL, Boye SE.   +8 more
europepmc   +1 more source

Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene

Stem Cell Research
Pathogenic variants in the KCNV2 gene can cause a rare retinal dystrophy that can be inherited recessively, known as cone dystrophy with supernormal rod response (CDSRR).
Almaqdad Alsalloum, Kristina Shefer, Pavel Bogdanov, Natalia Mingaleva, Alexander Kim, Sofya Feoktistova, Olga Mityaeva, Pavel Volchkov   +7 more
doaj   +1 more source

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Soucy M, Kolesnikova M, Kim AH, Tsang SH.   +3 more
europepmc   +1 more source

CDHR1-Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report. [PDF]

Medicina (Kaunas), 2023
Sobolewska M, Świerczyńska M, Dorecka M, Wyględowska-Promieńska D, Krawczyński MR, Mrukwa-Kominek E.   +5 more
europepmc   +1 more source