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 (STGD1), known as inherited retinal dy

7 Stargardt disease is a currently untreatable, inherited

8 Stargardt disease is a juvenile onset retinal degenerati

9 Stargardt disease is the most common form of early onset

10 Stargardt disease type 1 (STGD1) is a genetic disorder t

11 Stargardt disease type 1 patients (carrying at least 1 m

12 Stargardt disease, also known as juvenile macular degene

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

14 Stargardt disease, the most common inherited macular dys

15 Stargardt disease-associated mutations in this domain re

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

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

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

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

20 cone-rod dystrophy (approximately 1:14 000), Stargardt disease (approximately 1:16 000), Usher syndro

21 heterogenous clinical phenotypes, such as a Stargardt-like flecked fundus, bull's eye maculopathy, o

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

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

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

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

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

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

28 -attended CNN on the segmentation of AMD and Stargardt atrophic lesions on fundus autofluorescence (F

29 Geographic atrophy (GA) of AMD and Stargardt atrophy are their end-stage outcomes.

30 ied on the visual discovery of early AMD and Stargardt features.

31 Age-related macular degeneration (AMD) and Stargardt disease are the leading causes of blindness fo

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

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

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

35 cularly age-related macular degeneration and Stargardt disease.

36 trophic age-related macular degeneration and Stargardt disease.

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

38 self-attended mechanism for accurate GA and Stargardt atrophy segmentation.

39 llar ataxia-34 (SCA34), neuroichthyosis, and Stargardt-like macular dystrophy.

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

41 h macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at

42 g in a retinal degenerative disease known as Stargardt-1 disease.

43 caused by mutations in large genes, such as Stargardt disease (STGD).

44 at exceed single AAV cargo capacity, such as Stargardt disease (STGD1), the most common inherited mac

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

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

47 ditary and sporadic retinal diseases such as Stargardt disease, age-related macular degeneration or r

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

49 incurable blinding retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and atroph

50 linked to prevalent retinal diseases such as Stargardt disease, rod-cone dystrophies, and age-related

51 with molecularly-confirmed, ABCA4-associated Stargardt disease (STGD1) relative to normal controls.

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

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

54 ntosa with a percentage of 78.9% followed by Stargardt disease at 6.3%, cone-rod dystrophy at 2.0%, a

55 the most common IRD encountered followed by Stargardt disease.

56 nction mutations in ABCA4 are known to cause Stargardt disease (STGD1), an inherited retinal degenera

57 Mutations in ABCA4 gene causes Stargardt macular degeneration, which manifests with tox

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

59 ubset of patients with genetically confirmed Stargardt disease.

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

61 including age-related macular degeneration, Stargardt disease, and retinitis pigmentosa.

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

63 Age-related macular degeneration, Stargardt disease, and their Abca4(-/-) mouse model are

64 ients with age-related macular degeneration, Stargardt disease, or for quantitative analysis of AF si

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

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

67 ble genetic and age-related human disorders, Stargardt disease and age-related macular degeneration (

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

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

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

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

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

73 40 eyes), cone-rod dystrophy (CRD, 12 eyes), Stargardt disease (SD, 28 eyes), late-onset SD (LO-SD, 3

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

75 itive outcome parameter with which to follow Stargardt patients in clinical trials, allowing clinical

76 er Dice coefficient and a 32% higher IoU for Stargardt atrophy segmentation.

77 protein variants), which serve as models for Stargardt-1 disease.

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

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

80 nto the molecular mechanisms responsible for Stargardt macular degeneration.

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

82 are promising for non-viral gene therapy for Stargardt disease and can be expended for applications i

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

84 uate the efficacy of emerging treatments for Stargardt disease type 1 in clinical trials.

85 Although clinical trials for Stargardt are currently underway, the disease is typical

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

87 rom age-related macular degeneration or from Stargardt's disease) and a control group to characterize

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

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

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

91 ent-naive eyes with geographic atrophy (GA), Stargardt disease (STGD1), Best disease, pseudoxanthoma

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

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

94 We hypothesize that if Stargardt-3 or age-related macular degeneration patients

95 Importance: Stargardt disease is a phenotypically diverse macular dy

96 In Stargardt disease type 1, macular sensitivity declines s

97 In Stargardt disease with DDAF lesions, fundus autofluoresc

98 lium (RPE), and the choriocapillaris (CC) in Stargardt disease (STGD).

99 Visual acuity decline in Stargardt disease type 1 follows a nonlinear course, var

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

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

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

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

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

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

106 ostructure on spatially-resolved function in Stargardt disease, and might be used as quasi-functional

107 The high allelic heterogeneity in Stargardt disease (STGD1) complicates the design of inte

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

109 segmentation of autofluorescence lesions in Stargardt disease, demonstrating the feasibility of full

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

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

112 cated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopa

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

114 -p.Gly1961Glu, the most frequent mutation in Stargardt disease.

115 ay can induce retinal toxicity, as occurs in Stargardt disease type 1 (STGD1).

116 ectly linked to the cell death of the RPE in Stargardt, the extent to which it contributes to AMD is

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

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

119 marks of various retinal diseases, including Stargardt disease and age-related macular degeneration (

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

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

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

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

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

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

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

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

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

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

130 atients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular d

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

132 ts with a genetically confirmed diagnosis of Stargardt disease type 1 and >=2 visual acuity measureme

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

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

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

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

137 ordance of the phenotype may be a feature of Stargardt disease and cone dystrophies.

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

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

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

141 mportant to understand the histopathology of Stargardt disease.

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

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

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

145 hese granules in Abca4(-/-) mice (a model of Stargardt disease) relative to age-matched wild-type (WT

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

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

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

149 r intravitreal injection in a mouse model of Stargardt disease.

150 enotype of the Abca4(-/-)/Rdh8(-/-) model of Stargardt disease.

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

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

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

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

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

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

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

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

159 lesions in the retrospective Progression of Stargardt Disease study.

160 l biomarker for measuring the progression of Stargardt disease.

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

162 Late-onset Stargardt disease is a subtype of Stargardt disease type 1 (STGD1), defined by an age of o

163 aughters with pseudodominant transmission of Stargardt disease.

164 es previously unexplored in the treatment of Stargardt disease and provides a surrogate assay for ass

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

166 ogression are needed for treatment trials of Stargardt disease.

167 tive outcome measure for treatment trials of Stargardt disease.

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

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

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

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

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

173 Late-onset Stargardt disease is a subtype of Stargardt disease type

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

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

176 Recessive Stargardt disease (STGD1) is an inherited juvenile macul

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

178 Recessive Stargardt maculopathy is another central blinding diseas

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

180 Recessive Stargardt's macular degeneration is an inherited blindin

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

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

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

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

185 f the natural history of autosomal recessive Stargardt disease (STGD1).

186 e best known of which is autosomal recessive Stargardt disease (STGD1).

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

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

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

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

191 ce tomography) and patient data in recessive Stargardt disease.

192 to the diagnosis and monitoring of recessive Stargardt disease (STGD1).

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

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

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

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

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

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

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

200 nal dystrophy but increased in PRPH2-related Stargardt-like retinopathy.

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

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

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

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

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

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

207 ains (NBDs), have been genetically linked to Stargardt disease.

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

209 spective Progression of Atrophy Secondary to Stargardt Disease (ProgStar, NCT01977846) study were ana

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

211 assess whether these findings are unique to Stargardt disease.

212 function of ABCA4 and mechanisms underlying Stargardt disease.

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

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

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

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

217 nerate a Leu2027Phe mutation associated with Stargardt disease.

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

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

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

221 pite a retinopathy otherwise consistent with Stargardt disease.

222 maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was foun

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

224 fied in the sister originally diagnosed with Stargardt disease.

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

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

227 h 36 eyes with PPS maculopathy, 50 eyes with Stargardt disease, and 40 eyes with PRPH2-associated mul

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

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

230 lysis of a larger cohort of individuals with Stargardt disease did not support the association betwee

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

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

233 outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on

234 O) in a heterogenous cohort of patients with Stargardt (STGD1) disease.

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

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

237 Gap height decreased in patients with Stargardt disease (6.5 mum/year; P = .02) but increased

238 ges in gap width were noted in patients with Stargardt disease (78.1 mum/year) and cone dystrophies (

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

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

241 ss using in vivo OCT data from patients with Stargardt disease and healthy controls.

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

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

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

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

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

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

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

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

250 707 macular SD-OCT scans of 13 patients with Stargardt disease were reviewed and evaluated for the pr

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

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

253 sive nature of optical gaps in patients with Stargardt disease, achromatopsia, occult macular dystrop

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

255 y enlargement were observed in patients with Stargardt disease.

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

257 193 images from 193 eyes of 97 patients with Stargardt disease.

258 ssociated clinical findings in patients with Stargardt disease.

259 ivation might be beneficial in patients with Stargardt disease.

260 rence tomography in monitoring patients with Stargardt disease.

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

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

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

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

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

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