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 …
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …
population and children. The scope of this review is to familiarise clinicians and scientists …
[HTML][HTML] Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Purpose Using exome sequencing, the underlying variants in many persons with autosomal
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …
Detailed phenotyping and therapeutic strategies for intronic ABCA4 variants in Stargardt disease
Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the
ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter …
ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter …
The common ABCA4 variant p. Asn1868Ile shows nonpenetrance and variable expression of Stargardt disease when present in trans with severe variants
EH Runhart, R Sangermano… - … & visual science, 2018 - iovs.arvojournals.org
Purpose: To assess the occurrence and the disease expression of the common p.
Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic …
Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic …
Stargardt disease and progress in therapeutic strategies
Background Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …
Stargardt macular dystrophy and therapeutic approaches
Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most
prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused …
prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused …
[HTML][HTML] Prospective cohort study of childhood-onset Stargardt disease: fundus autofluorescence imaging, progression, comparison with adult-onset disease, and …
Purpose To determine the reliability and repeatability of quantitative evaluation of areas of
decreased autofluorescence (DAF) from fundus autofluorescence (FAF) images and track …
decreased autofluorescence (DAF) from fundus autofluorescence (FAF) images and track …
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
K Fujinami, RW Strauss, IS Audo… - British Journal of …, 2019 - bjo.bmj.com
Background/aims To describe the genetic characteristics of the cohort enrolled in the
international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and …
international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and …
[HTML][HTML] Phenotyping of ABCA4 retinopathy by machine learning analysis of full-field electroretinography
SL Glinton, A Calcagni, W Lilaonitkul… - … Vision Science & …, 2022 - iovs.arvojournals.org
Purpose: Biallelic pathogenic variants in ABCA4 are the commonest cause of monogenic
retinal disease. The full-field electroretinogram (ERG) quantifies severity of retinal …
retinal disease. The full-field electroretinogram (ERG) quantifies severity of retinal …