Results 41 to 50 of about 40,110 (209)

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Purpose To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). Methods Three males and one female from three unrelated families were first seen at the ages of 15 to 22 years and ...
Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.   +6 more
europepmc   +2 more sources

Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report

Case Reports in Ophthalmology, 2018
Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy.
Jocelyn Lam, Bradley Sifrig, Hoon Jung
doaj   +1 more source

Managing visual symptoms in cone-rod dystrophy with prosthetic soft contact lens: A case report

Indian Journal of Ophthalmology. Case Reports, 2023
This case demonstrates the utilization of a prosthetic type C contact lens to manage visual symptoms such as photophobia and glare in patients with cone-rod dystrophy.
Manju Balakrishnan, Asif Iqbal
doaj   +1 more source

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Scientific Reports, 2018
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina.
J. Birtel, T. Eisenberger, M. Gliem, P. Müller, P. Herrmann, C. Betz, Diana Zahnleiter, C. Neuhaus, S. Lenzner, F. Holz, E. Mangold, H. Bolz, P. Charbel Issa   +12 more
semanticscholar   +1 more source

Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

Acta Medica Iranica, 2020
Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients.
Shahram Nasiri, Farah Talebi, Javad Mohammadi Asl, Farideh Ghanbari Mardasi   +3 more
doaj   +1 more source

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. [PDF]

Sci Rep, 2019
GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD). GUCA1A-associated AD-COD/CORD has never been reported in the Japanese population.
Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.   +15 more
europepmc   +2 more sources

RPGRIP1 and Cone–Rod Dystrophy in Dogs [PDF]

, 2011
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype ...
Zangerl, Barbara, Aguirre, Gustavo D, Kuznetsova, Tatyana N   +2 more
openaire   +3 more sources

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Investigative Ophthalmology and Visual Science, 2019
Purpose To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Methods In this multicenter case series, we included 22 patients with RP1-associated retinal dystrophies from 19 families from The Netherlands and Japan.
S. K. Verbakel, Ramon A. C. van Huet, A. Hollander, Maartje J. Geerlings, E. Kersten, B. J. Klevering, C. Klaver, C. Klaver, A. Plomp, Nieneke L. Wesseling, A. Bergen, A. Bergen, K. Nikopoulos, Carlo Rivolta, Carlo Rivolta, Y. Ikeda, K. Sonoda, Y. Wada, C. Boon, C. Boon, T. Nakazawa, C. Hoyng, K. Nishiguchi   +22 more
semanticscholar   +1 more source

Alström Syndrome with Acute Pancreatitis: A Case Report

Kaohsiung Journal of Medical Sciences, 2003
We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu, Shinn-Cherng Chen, Chia-Yen Dia, Ming-Lung Yu, Ming-Yuh Hsieh, Zu-Yau Lin, Liang-Yen Wang, Jung-Fa Tsai, Wen-Yu Chang, Wan-Long Chuang   +9 more
doaj   +1 more source

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +1 more source