Results 101 to 110 of about 40,110 (209)

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

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series

Case Reports in Ophthalmology
Introduction: X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD).
Adrienne Delaney, Kari E. Branham, K. Thiran Jayasundera, Naheed W. Khan, Abigail T. Fahim   +4 more
doaj   +1 more source

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

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

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

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

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Clinical Ophthalmology, 2013
Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory ...
Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y   +5 more
doaj  

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