Results 201 to 210 of about 9,124 (223)

Inherited retinal dystrophies

2022
openaire   +1 more source

[Genetic diagnostic testing in inherited retinal dystrophies].

Klinische Monatsblatter fur Augenheilkunde, 2013
Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy ...
S, Kohl, S, Biskup
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An inherited central retinal pigment epithelial dystrophy.

Birth defects original article series, 1983
This report describes three generations of one family in which a mother and three of her children were affected by an unusual bilateral symmetrical atrophy of the retinal pigment epithelium in the macular area. All members of the family underwent complete eye examinations, stereoscopic color fundus photography and fluorescein angiography.
R, Klein, G, Bresnick
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Inherited Retinal Dystrophies - from theory to practice.

2021
Inherited Retinal Dystrophies - from theory to practice.
openaire  

[Gene Replacement Therapy for Inherited Retinal Dystrophies].

Klinische Monatsblatter fur Augenheilkunde, 2017
Characteristics of inherited retinal dystrophies include deficiencies in light perception and nervous conduction within the retina, leading to reduced vision or even blindness. In this context, the loss of function of photoreceptor-specific genes causes a variety of clinically and aetiologically distinct syndromes - each of them belonging to the group ...
R, Mühlfriedel, V, Sothilingam, N, Tanimoto, M W, Seeliger   +3 more
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Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center

Biomolecules, 2023
Peter Kiraly, Jasleen Kaur Jolly, Jasmina Cehajic Kapetanovic   +2 more
exaly  

Inherited Retinal Dystrophies: Role of Oxidative Stress and Inflammation in Their Physiopathology and Therapeutic Implications

Antioxidants, 2022
Isabel Pinilla, Victoria Maneu, Laura Campello   +2 more
exaly  

OCT angiography in inherited retinal dystrophies

Minerva Oftalmologica, 2018
Bacherini, Daniela, Sodi, Andrea, Virgili, Gianni, Rizzo, Stanislao   +3 more
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[Inherited retinal dystrophies: contributions of molecular genetics].

Biologie aujourd'hui, 2014
Inherited retinal dystrophies are Mendelian neurodegenerative conditions. The mutations of the responsible genes lead both to cell dysfunction and cell death in the retina. The majority of these diseases are responsible for a progressive vision loss ending in almost complete blindness. Recent breakthroughs in molecular genetics technologies (microchips,
openaire   +1 more source

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

Progress in Retinal and Eye Research, 2017
Suzanne Broadgate, Jing Yu, Susan M Downes   +2 more
exaly