ライフサイエンスコーパス: Stargardt disease

1 al end points for future treatment trials in Stargardt disease.

2 nerate a Leu2027Phe mutation associated with Stargardt disease.

3 ssociated clinical findings in patients with Stargardt disease.

4 tive outcome measure for treatment trials of Stargardt disease.

5 aughters with pseudodominant transmission of Stargardt disease.

6 te to the clinical staging and monitoring of Stargardt disease.

7 l biomarker for measuring the progression of Stargardt disease.

8 ayer was observed in 8 of 41 eyes (20%) with Stargardt disease.

9 y age-related macular degeneration (AMD) and Stargardt disease.

10 ivation might be beneficial in patients with Stargardt disease.

11 g cassette (ABC) family, are associated with Stargardt disease.

12 assess whether these findings are unique to Stargardt disease.

13 trophic age-related macular degeneration and Stargardt disease.

14 rence tomography in monitoring patients with Stargardt disease.

15 s of 85 patients with molecular diagnoses of Stargardt disease.

16 pite a retinopathy otherwise consistent with Stargardt disease.

17 ogression are needed for treatment trials of Stargardt disease.

18 ective review of data from 198 patients with Stargardt disease.

19 y enlargement were observed in patients with Stargardt disease.

20 cularly age-related macular degeneration and Stargardt disease.

21 -up in a group of 12 patients (24 eyes) with Stargardt disease.

22 c age-related macular degeneration (AMD) and Stargardt disease.

23 ant in Abca4(-/-) mice, a model of recessive Stargardt disease.

24 ere performed on 22 eyes of 11 patients with Stargardt disease.

25 ubset of patients with genetically confirmed Stargardt disease.

26 n eye cups of Abca4/Abcr-/- mice, a model of Stargardt disease.

27 s due to retinal degeneration (RD) including Stargardt disease.

28 elated probands with a clinical diagnosis of Stargardt disease, 182 patients with age-related macular

29 Twenty-nine patients with Stargardt disease (25%) and two with CRD had no identifi

30 Twenty-eight patients with Stargardt disease (53 eyes) with a mean age of 46 (15-79

31 sible for the loss of RPE cells in recessive Stargardt disease, a blindness macular disorder of juven

32 od photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular d

33 Mutations in ABCA4 are responsible for Stargardt disease, a degenerative disorder associated wi

34 pharmacological targets for the treatment of Stargardt disease, a severe juvenile form of macular deg

35 Stargardt disease, also known as juvenile macular degene

36 Stargardt disease, an ATP-binding cassette, subfamily A,

37 tor-specific ABC transporter responsible for Stargardt disease, an early onset macular degeneration.

38 Sixteen patients with a diagnosis of Stargardt disease and a Gly1961Glu mutation were enrolle

39 In these patients with Stargardt disease and a Gly1961Glu mutation, most showed

40 RPE is associated with pathogenesis of both Stargardt disease and age-related macular degeneration (

41 t microglial/macrophage activation in both a Stargardt disease and age-related macular degeneration m

42 Thus, Stargardt disease and age-related macular degeneration m

43 photodamage, especially in individuals with Stargardt disease and age-related macular degeneration t

44 lmark of aging and retinal disorders such as Stargardt disease and age-related macular degeneration.

45 similar mechanism may be operative in human Stargardt disease and age-related macular degeneration.

46 tment strategy for retinal diseases, such as Stargardt disease and dry age-related macular degenerati

47 ing the visual cycle and the pathogenesis of Stargardt disease and for the identification of compound

48 ction may play a role in the pathogenesis of Stargardt disease and is evidenced in human retinas.

49 -specific flippase ABCA4 are associated with Stargardt disease and many other forms of retinal degene

50 Thirty-seven (31%) of the 118 patients with Stargardt disease and one with CRD had only one likely p

51 vitamin A can prevent vision loss caused by Stargardt disease and other retinopathies associated wit

52 the blinding degeneration characteristic of Stargardt disease and related forms of macular degenerat

53 Together with clinical observations on Stargardt disease and the localization of ABCR to rod ou

54 es in the Abca4(-/-)Rdh8(-/-) mouse model of Stargardt disease and the Mertk(-/-) mouse model of reti

55 Out of 62 patients with Stargardt disease and wide-field retinal imaging, 14 had

56 ital stationary night blindness (CSNB), LCA, Stargardt disease, and blue cone monochromacy.

57 eration in age-related macular degeneration, Stargardt disease, and recessive cone dystrophies is a m

58 es such as age-related macular degeneration, Stargardt disease, and retinitis pigmentosa.

59 retinal pigment epithelium in patients with Stargardt disease as determined by fundus autofluorescen

60 number of choroidal hyperreflective foci in Stargardt disease as well as correlation with visual acu

61 Stargardt disease-associated mutations in this domain re

62 f inherited macular degenerations, including Stargardt disease, autosomal recessive cone rod dystroph

63 nge of inherited retinal diseases, including Stargardt disease, autosomal recessive cone rod dystroph

64 k of major degenerative eye diseases such as Stargardt disease, Best disease, and age-related macular

65 cular degeneration, including juvenile onset Stargardt disease, Best vitelliform macular degeneration

66 gs were compared with those of patients with Stargardt disease but no foveal sparing.

67 In the 10 studies on Stargardt disease, choroidal hyperreflective foci were p

68 ients who had been clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other ABCA4-a

69 ic (ERG) studies indicate that patients with Stargardt disease exhibit abnormally slow rod dark adapt

70 otentially be developed as a new therapy for Stargardt disease, for which there is currently no treat

71 The presence of 2 distinct phenotypes of Stargardt disease (foveal sparing and foveal atrophy) su

72 several inherited visual diseases, including Stargardt disease, fundus flavimaculatus, cone-rod dystr

73 It also provided a molecular basis of Stargardt disease involving this mutation.

74 Stargardt disease is a juvenile onset retinal degenerati

75 Importance: Stargardt disease is a phenotypically diverse macular dy

76 Stargardt disease is the most common form of early onset

77 resence of choroidal hyperreflective foci in Stargardt disease is, to our knowledge, a potentially ne

78 hough lipofuscin is considered a hallmark of Stargardt disease, its mechanism of formation and its ro

79 ared with their presence in subjects without Stargardt disease (Kruskal-Wallis P < 0.0001 for each va

80 levant information regarding the severity of Stargardt disease, likelihood of central scotoma expansi

81 port also highlights that milder, late-onset Stargardt disease may be confused with AMD.

82 zed primary RPE and the pigmented Abca4(-/-) Stargardt disease mouse model, we provide evidence for t

83 vascular layers of the choroid in eyes with Stargardt disease on SD OCT.

84 Patients with Stargardt disease or cone-rod dystrophy and disease-caus

85 Patients with Stargardt disease or cone-rod dystrophy and known or sus

86 nds that could modify the natural history of Stargardt disease or other retinopathies associated with

87 y of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) study.

88 ent study, choroidal hyperreflective foci in Stargardt disease, prominent at the Bruch membrane/RPE c

89 Five patients with Stargardt disease protected 1 eye from light exposure by

90 luorescence (UWF-FAF) in patients with ABCA4 Stargardt disease (STGD) and correlate these data with f

91 Stargardt disease (STGD) is a juvenile-onset macular dys

92 Stargardt disease (STGD) is the major form of inherited

93 Stargardt disease (STGD) is the most common hereditary m

94 ter, are responsible for autosomal recessive Stargardt disease (STGD), an early onset macular degener

95 cessively inherited retinopathies, including Stargardt disease (STGD), cone-rod dystrophy and retinit

96 been associated with the autosomal recessive Stargardt disease (STGD), retinitis pigmentosa (RP19), a

97 that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), au

98 Stargardt disease (STGD, also known as fundus flavimacul

99 gle-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been sh

100 Stargardt disease (STGD1) is characterized by macular at

101 ansporter (ABCA4) protein that is mutated in Stargardt disease (STGD1), a juvenile macular dystrophy.

102 leted for 150 families segregating recessive Stargardt disease (STGD1).

103 risk factors for BCVA loss in patients with Stargardt disease (STGD1).

104 Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutat

105 implicated in an autosomal dominant form of Stargardt disease (STGD3), a type of juvenile macular de

106 lesions in the retrospective Progression of Stargardt Disease study.

107 h was performed to identify SD-OCT images in Stargardt disease; these findings were reviewed for the

108 atients with retinal phenotypes ranging from Stargardt disease to retinitis pigmentosa.

109 ew outcome measures for treatment trials for Stargardt disease type 1 (STGD1) and other macular disea

110 patients, median age at initial diagnosis of Stargardt disease was 9.5 years, and the median duration

111 Diagnosis of Stargardt disease was based on ophthalmic history and co

112 lary retina of an eye donor with ungenotyped Stargardt disease was examined microscopically.

113 Using a mouse model of Stargardt disease, we found that pharmacological interve

114 Here, using a murine model of Stargardt disease, we show that the propensity of vitami

115 of 13 patients with a clinical diagnosis of Stargardt disease were evaluated in a retrospective case

116 707 macular SD-OCT scans of 13 patients with Stargardt disease were reviewed and evaluated for the pr

117 regularly shaped in 26 of 41 eyes (64%) with Stargardt disease when compared to 0 of 30 healthy eyes

118 ness were significantly reduced in eyes with Stargardt disease when compared to healthy eyes (272.8 +

119 were significantly enriched in patients with Stargardt disease when compared with their presence in s

120 One hundred fifty patients with Stargardt disease who were examined at least four times

121 In Stargardt disease with DDAF lesions, fundus autofluoresc

122 ewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesi

123 rmore, chronic treatment of a mouse model of Stargardt disease with the RPE65 antagonists abolishes t