Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
N Kumaran, AT Moore, RG Weleber… - British journal of …, 2017 - bjo.bmj.com
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are
both genetically and phenotypically heterogeneous, and characterised clinically by severe …
both genetically and phenotypically heterogeneous, and characterised clinically by severe …
[HTML][HTML] Non-syndromic retinitis pigmentosa
SK Verbakel, RAC van Huet, CJF Boon… - Progress in retinal and …, 2018 - Elsevier
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
[HTML][HTML] The role of vitamin A in retinal diseases
J Sajovic, A Meglič, D Glavač, Š Markelj… - International journal of …, 2022 - mdpi.com
Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is
essential for several physiological processes. Either hyper-or hypovitaminosis can be …
essential for several physiological processes. Either hyper-or hypovitaminosis can be …
[HTML][HTML] Leber's congenital amaurosis: current concepts of genotype-phenotype correlations
CH Huang, CM Yang, CH Yang, YC Hou, TC Chen - Genes, 2021 - mdpi.com
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is
typically associated with extremely early onset of visual loss, nystagmus, and amaurotic …
typically associated with extremely early onset of visual loss, nystagmus, and amaurotic …
[HTML][HTML] Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …
clinical and genetic heterogeneity. Common presentations among these disorders include …
[HTML][HTML] Gene therapy in retinal diseases: A review
D Dhurandhar, NK Sahoo, I Mariappan… - Indian Journal of …, 2021 - journals.lww.com
Over 2 million people worldwide are suffering from gene-related retinal diseases, inherited
or acquired, and over 270 genes have been identified which are found to be responsible for …
or acquired, and over 270 genes have been identified which are found to be responsible for …
[HTML][HTML] Molecular basis for vitamin A uptake and storage in vertebrates
The ability to store and distribute vitamin A inside the body is the main evolutionary
adaptation that allows vertebrates to maintain retinoid functions during nutritional …
adaptation that allows vertebrates to maintain retinoid functions during nutritional …
[HTML][HTML] Current mutation discovery approaches in Retinitis Pigmentosa
A Anasagasti, C Irigoyen, O Barandika, AL de Munain… - Vision research, 2012 - Elsevier
With a worldwide prevalence of about 1 in 3500–5000 individuals, Retinitis Pigmentosa
(RP) is the most common form of hereditary retinal degeneration. It is an extremely …
(RP) is the most common form of hereditary retinal degeneration. It is an extremely …
[HTML][HTML] The emerging landscape of dynamic DNA methylation in early childhood
Background DNA methylation has been found to associate with disease, aging and
environmental exposure, but it is unknown how genome, environment and disease influence …
environmental exposure, but it is unknown how genome, environment and disease influence …
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine
AA Kondkar, KK Abu-Amero - Experimental Eye Research, 2019 - Elsevier
Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's
congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal …
congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal …