Results 81 to 90 of about 264,225 (169)

Dark Choroid in Cone-Rod Dystrophy

, 1992
An unusual pattern of dark choroid in an eight-year-old girl is described. The ophthalmoscopic, fluorescein angiographic and functional changes were indicative of progressive cone-rod dystrophy.
W. Van De Sompel, A. Leys
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Research Article Cone Dystrophy in Patient with Homozygous RP1L1 Mutation [PDF]

, 2015
International audienceThe purpose of this study was to determine whether an autosomal recessive cone dystrophy was caused by a homozygous RP1L1 mutation.
Zeitz, Christina, Takahashi, Hiroshi, El Shamieh, Said, Audo, Isabelle, Kikuchi, Sachiko, Kameya, Shuhei, Gocho, Kiyoko, Sugawara, Yuko, Akeo, Keiichiro, Yamaki, Kunihiko   +9 more
core   +1 more source

A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review

American Journal of Ophthalmology Case Reports
Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D ...
Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang   +6 more
doaj   +1 more source

Genetic testing for central areolar choroidal dystrophy

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for central areolar choroidal dystrophy (CACD). CACD is mostly inherited in an autosomal dominant manner.
Abeshi Andi, Fanelli Francesca, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Cone Dystrophy

, 2014
PowerPoint discussing Cone Dystrophy: Early loss of central and color vision; Color impairment often out of proportion to loss of VA; Hemeralopia ("day blindness") prominent; Light sensitivity and photophobia; Macular changes variable, and may occur ...
Gregory P. Van Stavern, MD
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Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Meinen, Sarina, Markus A Ruegg, Ruegg, Markus A., Sarina Meinen, Shuo Lin, Lin, Shuo   +5 more
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Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

Journal of Ophthalmology
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez, Rocío Arce-González, Alan Martínez-Aguilar, Carlos E. Rodríguez-López, Sergio Groman-Lupa, M. Isabel Neria-González, Genaro Rodríguez-Uribe, Juan C. Zenteno   +7 more
doaj   +1 more source

ABCA4-related retinopathies in Lebanon

Heliyon
Variants in ATP-binding cassette transporter type A4 (ABCA4) have been linked to several forms of inherited retinal diseases (IRDs) besides the classically defined Stargardt disease (STGD), known collectively as ABCA4 retinopathies.
Mariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Said El Shamieh   +4 more
doaj   +1 more source

Case of Unilateral Peripheral Cone Dysfunction

Case Reports in Ophthalmology, 2012
Purpose: Peripheral cone dystrophy is a subgroup of cone dystrophy, and only 4 cases have been reported. We present a patient with unilateral peripheral cone dysfunction and report the functional changes determined by electrophysiological tests and ...
Yujin Mochizuki, Kei Shinoda, Celso Soiti Matsumoto, Gerd Klose, Emiko Watanabe, Keisuke Seki, Itaru Kimura, Atsushi Mizota   +7 more
doaj   +1 more source

Peripheral Cone Dystrophy: An Unusual and Rare Form of Cone Dystrophy

, 2014
Cone dystrophy refers to a group of disorders characterized by cone dysfunction and can subdivided into central and peripheral forms. Both are regional cone dystrophies where the cone system is predominately impaired with preservation of the rod system ...
Michael Vaphiades; Jennifer Doyle
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