Results 1 to 10 of about 51,591 (290)

Unilateral retinitis pigmentosa and cone-rod dystrophy

Clinical Ophthalmology, 2009
Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj   +1 more source

Efficacy of anti-VEGF in the treatment of choroidal neovascular membrane secondary to pattern dystrophy simulating fundus flavimaculatus. [PDF]

GMS Ophthalmol Cases, 2019
Pattern dystrophies are a group of inherited disorders of the retinal pigment epithelium. A 44-year-old female came with loss of vision in her right eye. The fundus of both eyes showed flecks in the posterior pole with a CNVM in the right eye. FFA and SD
Nangia P, Shah D, Saurabh K, Roy R.
europepmc   +2 more sources

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

Butterfly-shaped Pattern Dystrophy in Myotonic Dystrophy

Internal Medicine, 2012
Makino, Shinji, Ohkubo, Yuko, Tampo, Hironobu   +2 more
openaire   +3 more sources

Myopathy of distal lower limbs: the clinical variant of Miyoshi

Arquivos de Neuro-Psiquiatria, 2003
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N., Freitas Marcos R.G. de, Nascimento Osvaldo J.M., Silva Lenilda Ferreira da, Freitas Andréa R. de, Werneck Lineu C.   +5 more
doaj  

Novel molecular mechanisms for Prph2-associated pattern dystrophy. [PDF]

FASEB J, 2020
Chakraborty D, Strayve DG, Makia MS, Conley SM, Kakahel M, Al-Ubaidi MR, Naash MI.   +6 more
europepmc   +1 more source

Steinert's congenital myotonic dystrophy: report of a patient

Acta Médica del Centro, 2012
Steinert'scongenital myotonic dystrophy is a hereditary disease with a pattern of dominant autosomal inheritance that has broad forms of presentation and can occur from early life to adulthood.
Reina Yudyt Meneses Agüero, Lyz Mary Concepción Pacheco   +1 more
doaj  

Pattern Dystrophy

, 2020
Andrew Tsai, Adrian Koh, Nan-Kai Wang, Ranjana Mathur, Gemmy C. M. Cheung   +4 more
openaire   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology
Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far,
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
doaj   +1 more source

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study. [PDF]

Doc Ophthalmol
Ramakrishnan P, Kenworthy MK, Alexis JA, Thompson JA, Lamey TM, Chen FK.   +5 more
europepmc   +1 more source