|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt disease (STGD1) and ar cone-rod dystrophy.
|
28044389 |
2017 |
|
Cone-Rod Dystrophy 2
|
0.400 |
Biomarker
|
disease |
BEFREE |
Comprehensive clinical studies were performed to identify patients with Stargardt disease (STGD, n = 76) and cone-rod dystrophy (CRD, n = 16).
|
26593885 |
2016 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
|
26992781 |
2016 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to determine the ABCA4 mutation detection rate and mutation spectrum in a cohort of Chinese patients with STGD1 or CRD and describe the clinical features of the patients with ABCA4 mutations.
|
26780318 |
2016 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy.
|
25363634 |
2015 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Ophthalmologic findings included markedly reduced visual acuity, bull's eye maculopathy, foveal hyperpigmentation, peripapillary atrophy, dyschromatopsia, extinguished photopic responses, and reduced scotopic responses observed on electroretinography consistent with the CRD phenotype often associated with ABCA4 mutations.
|
25356532 |
2015 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that ABCA4 mutations lead to a spectrum of retinal degenerations ranging from STGD to CRD or arRP.
|
24453473 |
2014 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ABCA4 mutations were identified in 15 patients with recessive CRD.
|
25082885 |
2014 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
|
23776498 |
2013 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Overall, we detected 70.5% and 36.6% of all expected ABCA4 mutations in arSTGD and arCRD patient cohorts, respectively.
|
23755871 |
2013 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
|
19352439 |
2009 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based on these data we estimate a prevalence of 31% for ABCA4 mutations in arCD and arCRD, supporting the concept that the ABCA4 gene is a major locus for various types of degenerative retinal diseases with abnormalities in cone or both cone and rod function.
|
18285826 |
2008 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We found a new pathologic ATP-binding cassette transporter (ABCA4) splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T (p.P1776L) missense mutation in the arCRD patients.
|
17893657 |
2007 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with Stargardt disease or cone-rod dystrophy and known or suspected disease-causing mutations in the ABCA4 gene were included.All patients had foveal fixation.
|
17325179 |
2007 |
|
Cone-Rod Dystrophy 2
|
0.400 |
Biomarker
|
disease |
BEFREE |
The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs).
|
17270046 |
2007 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
|
16896346 |
2006 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The new 6730-16del44 deletion is the first de novo mutation associated with cone-rod dystrophy and may contribute to a better understanding of the role of ABCA4 mutations in macular dystrophies.
|
16681420 |
2006 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with Stargardt disease or cone-rod dystrophy and disease-causing variants in the ABCA4 gene were included.
|
16303974 |
2005 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed detailed ophthalmologic examinations and identified at least one ABCA4 mutation in 18 patients (33%) with CRD and in five patients (5.6%) with RP.
|
15494742 |
2004 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Different mutations in the ABCA4 gene are the cause of STGD and RP or CRD in at least 2 and, possibly, 3 families.
|
15019334 |
2004 |
|
Cone-Rod Dystrophy 2
|
0.400 |
Biomarker
|
disease |
BEFREE |
A homozygous protein-truncating mutation in ABCA4 can cause a phenotype ranging from STGD to CRD as diagnosed at an early stage of the disease.
|
15017103 |
2004 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD).
|
14517951 |
2003 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm that a substantial percentage of patients with autosomal recessive cone-rod dystrophy are likely to harbor a mutation in the ABCA4 gene as the cause of their disease.
|
12796258 |
2003 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In family I, we have shown cosegregation of different ABCA4 alleles with CRD (homozygosity for L1940P) and three subtypes of STGD/FFM.
|
12442277 |
2002 |
|
Cone-Rod Dystrophy 2
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One hundred eighteen unrelated patients with recessive Stargardt macular degeneration and eight with recessive CRD were screened for mutations in ABCR (ABCA4) by single-strand conformation polymorphism analysis.
|
11527935 |
2001 |