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1 or vision following cortical damage (central achromatopsia).
2 osomal recessively inherited retinal disease achromatopsia.
3 osomal recessively inherited retinal disease achromatopsia.
4 iption factor 6 (ATF6) as a genetic cause of achromatopsia.
5 3 alone account for 50% of reported cases of achromatopsia.
6 tudied, less is known of young children with achromatopsia.
7 tions in CNGA3 in 2 patients with incomplete achromatopsia.
8 ith full-field electroretinography-confirmed achromatopsia.
9  macular architecture in young children with achromatopsia.
10  as atypical (category 2) and diagnosed with achromatopsia.
11 CNGB3 account for >70% of all known cases of achromatopsia.
12  gene account for >50% of all known cases of achromatopsia.
13  homologous mouse model for PDE6C associated achromatopsia.
14 aging, and electrophysiology consistent with achromatopsia.
15 diesterase as a cause of autosomal recessive achromatopsia.
16 one accounting for 50% of all known cases of achromatopsia.
17 acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.
18 esults in impaired cone function manifesting achromatopsia.
19 same location as human GNAT2, known to cause achromatopsia.
20 f genes of X-linked idiopathic nystagmus and achromatopsia.
21 ess, albinism, blue cone monochromatism, and achromatopsia.
22 performed in three Pingelapese kindreds with achromatopsia.
23 ing a treatment of the trafficking defect in achromatopsia.
24  (31.9 mum/year) compared with patients with achromatopsia (16.2 mum/year) and occult macular dystrop
25                        Molecular analysis of achromatopsia 2 mutations may be useful in evaluating po
26 imics the all cone foveal structure of human achromatopsia 2 with CNGA3 mutations.
27                                              Achromatopsia 2, an inherited retinal disorder resulting
28 ear; P = .02) but increased in patients with achromatopsia (3.3 mum/year) and occult macular dystroph
29 ; (2) atypical foveal hypoplasia (predicting achromatopsia); (3) other foveal changes (corresponding
30 f retinal function following therapy renders achromatopsia a very attractive candidate for gene thera
31 vea of 30 healthy controls, 10 patients with achromatopsia (A), and six with cone dystrophy (CD) were
32 yclic nucleotide-gated channels that produce achromatopsia, a common form of severe color blindness.
33 rapy visual restoration for congenital CNGA3-achromatopsia, a disease caused by cone photoreceptor dy
34        It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disor
35 hotoreceptor CNG channels is associated with achromatopsia, a human autosomal inherited loss of cone
36 and day vision in two canine models of CNGB3 achromatopsia, a neuronal channelopathy that is the most
37                                              Achromatopsia (ACHM) is a congenital, autosomal recessiv
38                                              Achromatopsia (ACHM) is an autosomal recessive disorder
39 a' C-terminal prenylation motif is linked to achromatopsia (ACHM), a type of color blindness in human
40 manifesting as the human vision loss disease achromatopsia (ACHM).
41    We had the opportunity to study two CNGA3-achromatopsia adults (one female) before and after ocula
42 e is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characteriz
43   Comparative case series of 9 patients with achromatopsia and 9 age-matched control participants at
44 subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophies.
45 subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophies.
46                   Cone loss in patients with achromatopsia and cone dystrophy associated with CNG cha
47 utation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 p
48 velopment, pathophysiology, and treatment of achromatopsia and other cone degenerations.
49 ical trials of cone-directed gene therapy in achromatopsia and other cone-specific disorders.
50  in the channel subunits are associated with achromatopsia and progressive cone dystrophy in humans.
51 tations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutat
52 ic pattern that was not present in untreated achromatopsia and which is highly unlikely to emerge by
53 d channel B subunit-deficient mice (moderate achromatopsia) and guanylate cyclase 2e-deficient mice (
54 To obtain insights into the genetic basis of achromatopsia, as well as into the genetic history of th
55 e, we comprehensively tested the function of achromatopsia-associated ATF6 mutations and found that t
56  subunits with hCNGB3 subunits containing an achromatopsia-associated mutation in the S6 transmembran
57  describe the functional consequences of two achromatopsia-associated mutations in human CNGB3 (hCNGB
58                We evaluated 10 patients with achromatopsia by means of best-corrected visual acuity (
59 mant cone-mediated pathways in children with achromatopsia (CNGA3- and CNGB3-associated, 10-15 years)
60  in a Cpfl1 mouse with Pde6c defect model of achromatopsia, compared with their respective untreated
61 sociated with human cone diseases, including achromatopsia, cone dystrophies, and early onset macular
62 e-gated (CNG) channel deficiency, a model of achromatopsia/cone dystrophy, cones display early-onset
63                 In our cohort, patients with achromatopsia demonstrated age-dependent changes in FAF,
64 ly serve as a therapeutic testing ground for achromatopsia gene replacement, but also for optimizatio
65 replacement therapy in non-primate models of achromatopsia has raised widespread hopes for clinical t
66         While older children and adults with achromatopsia have been studied, less is known of young
67 fic phototransduction enzyme associated with achromatopsia in humans.
68 coding the CNGB3 subunit have been linked to achromatopsia in humans.
69 hannelopathy that is the most common form of achromatopsia in man.
70 tinal development underlies the pathology of achromatopsia in patients with ATF6 mutations.
71              ATF6 mutations in patients with achromatopsia include missense, nonsense, splice site, a
72                                To categorize achromatopsia into clinically identifiable stages using
73                                        CNGA3-achromatopsia is a congenital hereditary disease caused
74                                     Complete achromatopsia is a genetic defect resulting in cone visi
75                    Evidence is mounting that achromatopsia is a progressive retinal degeneration, and
76                                     Complete achromatopsia is a rare, autosomal recessive disorder ch
77                                              Achromatopsia is a severe monogenic heritable retinal di
78                                              Achromatopsia is an autosomal recessive disease of the r
79                                              Achromatopsia is an autosomal recessive disorder charact
80                                              Achromatopsia is an inherited retinal degeneration chara
81   Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,00
82 ependent frameshift deletions establish that achromatopsia is the null phenotype of CNGB3.
83                           Here we narrow the achromatopsia locus to 1.4 cM and show that Pingelapese
84 e individual members of the kindreds, and an achromatopsia locus was identified on 8q21-q22.
85  homology between the cd locus and the human achromatopsia locus, ACHM3, at 8q21-22.
86                                        Thus, achromatopsia may arise from a disturbance of cone CNG c
87 esia, who have a high incidence of recessive achromatopsia (MIM 262300).
88 cal gaps in patients with Stargardt disease, achromatopsia, occult macular dystrophy, and cone dystro
89                                              Achromatopsia often demonstrates hyperautofluorescence s
90                                              Achromatopsia, or rod monochromatism, was first mapped t
91                                              Achromatopsia, or total color blindness (also referred t
92                          Cones degenerate in achromatopsia patients and in CNGA3(-/-) and CNGB3(-/-)
93  mode for safely transducing foveal cones in achromatopsia patients and in other human retinal diseas
94 syndromic RP, sector RP, cone-rod dystrophy, achromatopsia, PAX6-related dystrophy, and X-linked reti
95 k of choroideremia (POR 5.17, CI 4.07-6.59), achromatopsia (POR 1.65, 1.43-1.91), and congenital stat
96  Two siblings originally diagnosed as having achromatopsia presented with mild light sensitivity, non
97 subunits CNGA3 and CNGB3 are associated with achromatopsia, progressive cone dystrophy, and early-ons
98 d macular degeneration [AMD], choroideremia, achromatopsia, retinitis pigmentosa, and X-linked retino
99 ia locus to 1.4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a h
100 udy, the primary cone photoreceptor disorder achromatopsia served as the ideal translational model to
101 ptor structure and function in patients with achromatopsia should be useful in guiding selection of p
102 Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis.
103                                   Linkage of achromatopsia to chromosome 2 is an essential first step
104 ction reported to date in an animal model of achromatopsia using a human gene construct, which has th
105       The mean (SD) age of the patients with achromatopsia was 4.2 (2.4) years, and the mean (SD) age
106                                              Achromatopsia was categorized into 5 stages on spectral-
107                         A candidate gene for achromatopsia was excluded from this disease interval by
108 of the macula and fovea in the patients with achromatopsia were 14% and 17% thinner than in the contr
109 h idiopathic infantile nystagmus, and 6 with achromatopsia) were examined.
110  function loss type 1 mice (severe recessive achromatopsia) were used to determine whether suppressin
111 lder than reported in older individuals with achromatopsia, which suggests the need for early therape
112        We studied two patients with cerebral achromatopsia, who lack conscious colour perception but
113                          This mouse model of achromatopsia will be useful in the study of the develop
114 improved in Rpe65(-/-) and Cpfl1 (a model of achromatopsia with Pde6c defect) mice with Thrb2 deletio
115  first time that gene replacement therapy in achromatopsia within the plastic period of development c

 
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