ライフサイエンスコーパス: Stargardt

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

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

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

4 Stargardt disease (STGD, also known as fundus flavimacul

5 Stargardt disease (STGD1) is characterized by macular at

6 Stargardt disease is a juvenile onset retinal degenerati

7 Stargardt disease is the most common form of early onset

8 Stargardt disease, also known as juvenile macular degene

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

10 Stargardt disease-associated mutations in this domain re

11 Stargardt type 3 (STGD3) disease is a juvenile macular d

12 Stargardt's disease (STGD) and Retinitis Pigmentosa (RP)

13 Stargardt-like macular dystrophy (STGD3) is a dominantly

14 Stargardt-like macular dystrophy (STGD3, MIM 600110) and

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

16 Tangier mutants and the corresponding ABCA4 Stargardt mutants showed significantly reduced phospholi

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

18 inal pigment epithelium (RPE) in Abca4 (-/-) Stargardt model mice compared to their relevant backgrou

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

20 patible with HPRDCV were found on 35% of all Stargardt-associated alleles overall.

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

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

23 f age-related macular degeneration (AMD) and Stargardt's disease.

24 trophic age-related macular degeneration and Stargardt disease.

25 cularly age-related macular degeneration and Stargardt disease.

26 ts in mouse models of obesity, diabetes, and Stargardt's disease by targeting RBP4.

27 ning flash determined in normal subjects and Stargardt patients exhibited a biphasic recovery, and th

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

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

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

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

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

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

34 ubset of patients with genetically confirmed Stargardt disease.

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

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

37 rs such as age-related macular degeneration, Stargardt's disease and retinitis pigmentosa.

38 sis, X-linked retinoschisis, Best's disease, Stargardt's disease, and congenital stationary night bli

39 Autosomal dominant Stargardt-like (STGD3) disease results from mutations in

40 OVL4) are associated with autosomal dominant Stargardt-like macular degeneration (STGD3), with a five

41 escribe a kindred with an autosomal dominant Stargardt-like phenotype.

42 Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] re

43 ore, this kindred establishes a new dominant Stargardt-like locus, STGD4.

44 tigated in seven normal subjects and in five Stargardt patients with identified sequence variations i

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

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

47 nto the molecular mechanisms responsible for Stargardt macular degeneration.

48 ial loss of ABCR function is responsible for Stargardt macular dystrophy, which is associated with ac

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

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

51 ted families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inher

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

53 neration in genetic blinding diseases (e.g., Stargardt) and a possible etiological agent for age-rela

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

55 e ELOVL4 protein, which is involved in human Stargardt's macular dystrophy type 3 (STGD3).

56 Importance: Stargardt disease is a phenotypically diverse macular dy

57 In Stargardt disease with DDAF lesions, fundus autofluoresc

58 The primary pathologic defect in Stargardt's disease is accumulation of toxic lipofuscin

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

60 k-adapted, rod-mediated a-wave determined in Stargardt patients (211 +/- 87 microV) was on average lo

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

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

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

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

65 hotoreceptor death and severe visual loss in Stargardt's patients.

66 n and thus delay the onset of visual loss in Stargardt's patients.

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

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

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

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

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

72 ber of inherited visual disorders, including Stargardt macular degeneration and age-related macular d

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

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

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

76 s that they may play role in ELOVL4-mediated Stargardt 3.

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

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

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

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

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

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

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

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

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

86 An autosomal dominant form of Stargardt macular degeneration (STGD) is caused by mutat

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

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

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

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

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

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

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

94 osition and eye function in a mouse model of Stargardt's disease.

95 PE tissue from the ABCA4(-/-) mouse model of Stargardt's retinal degeneration.

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

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

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

99 However, the pathogenesis of Stargardt is still poorly understood and targeted treatm

100 RPE lysosomes and drives the pathogenesis of Stargardt macular degeneration.

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

102 lesions in the retrospective Progression of Stargardt Disease study.

103 l biomarker for measuring the progression of Stargardt disease.

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

105 aughters with pseudodominant transmission of Stargardt disease.

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

107 tive outcome measure for treatment trials of Stargardt disease.

108 ogression are needed for treatment trials of Stargardt disease.

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

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

111 Thus, early-onset Stargardt lies at the severe end of the spectrum of ABCA

112 In early-onset Stargardt, initial ophthalmoscopy can reveal no abnormal

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

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

115 r of inherited retinal diseases particularly Stargardt macular degeneration and age-related macular d

116 Recessive Stargardt macular degeneration (STGD1) is caused by muta

117 Recessive Stargardt maculopathy is another central blinding diseas

118 Recessive Stargardt's macular degeneration is a blinding disease o

119 Recessive Stargardt's macular degeneration is an inherited blindin

120 recessive cone-rod dystrophy, and recessive Stargardt macular degeneration.

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

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

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

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

125 sporter 4), the gene causative for recessive Stargardt macular degeneration.

126 ing the abca4(-/-) mouse model for recessive Stargardt, we investigated the role of lipofuscin fluoro

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

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

129 cups of Abcr(-/-) mice, a model of recessive Stargardt macular degeneration, all-trans-retinal dimer-

130 m (RPE) is a pathologic feature of recessive Stargardt macular dystrophy, a blinding disease caused b

131 n accumulation in a mouse model of recessive Stargardt's disease.

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

133 use a phenotype in mice similar to recessive Stargardt's disease (STGD) and age-related macular degen

134 d eighteen unrelated patients with recessive Stargardt macular degeneration and eight with recessive

135 rked correction of functional and structural Stargardt phenotypes, such as improved recovery of dark

136 he RPE increased with age and more so in the Stargardt model Abca4(-/-) than in the wild type strains

137 and down-regulation of protective CRP in the Stargardt mouse model.

138 dark-adapted maximum a-wave amplitude in the Stargardt/ABCA4 patients, the early-stage recovery kinet

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

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

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

142 in our family has characteristics similar to Stargardt-like macular degeneration with some difference

143 assess whether these findings are unique to Stargardt disease.

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

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

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

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

148 nerate a Leu2027Phe mutation associated with Stargardt disease.

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

150 g cassette transporter ABCA4 associated with Stargardt macular degeneration and retinol dehydrogenase

151 play characteristic features associated with Stargardt-like macular degeneration and serve as a model

152 pite a retinopathy otherwise consistent with Stargardt disease.

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

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

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

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

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

158 in ABCA4-deficient mice and individuals with Stargardt macular degeneration.

159 chart) in the study eye of the patient with Stargardt's macular dystrophy, and vision also seemed to

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

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

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

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

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

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

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

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

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

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

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

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

172 707 macular SD-OCT scans of 13 patients with Stargardt disease were reviewed and evaluated for the pr

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

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

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

176 ssociated clinical findings in patients with Stargardt disease.

177 ivation might be beneficial in patients with Stargardt disease.

178 rence tomography in monitoring patients with Stargardt disease.

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

180 y enlargement were observed in patients with Stargardt disease.

181 Fifty-two patients with Stargardt macular degeneration (44% of those screened) a

182 nal pigment epithelium in nine patients with Stargardt's macular dystrophy (age >18 years) and nine w

183 al pigment epithelium (RPE) in patients with Stargardt's macular dystrophy and dry age-related macula

184 al pigment epithelium cells in patients with Stargardt's macular dystrophy and dry age-related macula

185 egeneration and 8-20 points in patients with Stargardt's macular dystrophy.

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