ライフサイエンスコーパス: retinal dystrophy

1 gene replacement in RPE65-mediated inherited retinal dystrophy.

2 ular cystinosis, foveoschisis and pigmentary retinal dystrophy.

3 is characterized by early-onset degenerative retinal dystrophy.

4 he most common and severe forms of inherited retinal dystrophy.

5 d visual impairment due to severe myopia and retinal dystrophy.

6 Mutations in CDHR1 are a rare cause of retinal dystrophy.

7 y human RPGR but not by RPGR mutants causing retinal dystrophy.

8 ecognized as an important cause of inherited retinal dystrophy.

9 nital amaurosis (LCA), a form of early-onset retinal dystrophy.

10 age-matched RCS/N-rdy (rdy) homozygotes with retinal dystrophy.

11 12 to severe early-onset autosomal recessive retinal dystrophy.

12 retinas, but were apparent in patients with retinal dystrophy.

13 h autosomal recessive childhood-onset severe retinal dystrophy.

14 n of S-cones, and develop severe early onset retinal dystrophy.

15 1) found in human patients with a late-onset retinal dystrophy.

16 ht be involved in photoreceptor cell loss in retinal dystrophy.

17 rotein were observed in the RCS rat model of retinal dystrophy.

18 nital amaurosis (LCA), a severe, early-onset retinal dystrophy.

19 associated with severe forms of early-onset retinal dystrophy.

20 have been identified as a cause of blinding retinal dystrophy.

21 ted photo-receptor protein associated with a retinal dystrophy.

22 of CRB1, encoding another component, causes retinal dystrophy.

23 ghts a pathway previously uncharacterized in retinal dystrophy.

24 LCA is a severe early onset retinal dystrophy.

25 (RP) is the most frequent form of inherited retinal dystrophy.

26 zygous mutation in RAX2 in the patients with retinal dystrophy.

27 sa (RP) is the most common form of inherited retinal dystrophy.

28 nge, 5-60 years) without a family history of retinal dystrophy.

29 be considered in subjects with non-syndromic retinal dystrophy.

30 juvenile retinoschisis (XLRS), a hereditary retinal dystrophy.

31 to determine the molecular etiology of their retinal dystrophy.

32 ure clinical trials of gene therapy to treat retinal dystrophy.

33 phology (category 3) and were diagnosed with retinal dystrophy.

34 in diagnosing this rare autosomal recessive retinal dystrophy.

35 appear to be useful tools for characterizing retinal dystrophies.

36 luorescence (FAF) to the characterization of retinal dystrophies.

37 l, as mutations in the human CRB1 gene cause retinal dystrophies.

38 -linked retinoschisis (XLRS), and some other retinal dystrophies.

39 eting a wider severity spectrum of inherited retinal dystrophies.

40 ts may be useful in the treatment of certain retinal dystrophies.

41 tions in RPE65 are associated with inherited retinal dystrophies.

42 nate genes lead to distinct and severe human retinal dystrophies.

43 ve children (31%) were referred as suspected retinal dystrophies.

44 RB1) gene lead to severe recessive inherited retinal dystrophies.

45 gh priority in families with highly variable retinal dystrophies.

46 clinical diagnosis of pattern, macular, and retinal dystrophies.

47 which distinguishes this disorder from other retinal dystrophies.

48 tients with a variety of presumed hereditary retinal dystrophies.

49 such as age-related macular degeneration and retinal dystrophies.

50 nd genotype of patients with CRB1-associated retinal dystrophies.

51 ng therapeutic target for neuroprotection in retinal dystrophies.

52 Royal College of Surgeons (RCS) rat and the retinal dystrophy 1 (RD1) mouse, both of which display p

53 model with hypomorphic mutations in CEP290 [retinal dystrophy-16 mice (rd16)], electro-olfactogram r

54 bers of the family were identified as having retinal dystrophy (4 were examined, and 3 were genetical

55 ons in the SRD5A3 gene may cause early-onset retinal dystrophy, a previously underdescribed feature o

56 ions in SPATA7 are a rare cause of childhood retinal dystrophy accounting for 1.7% of disease in this

57 isolated neurological involvement to JS with retinal dystrophy, additional brain abnormalities (e.g.,

58 dystrophy (CRD) is an inherited progressive retinal dystrophy affecting the function of cone and rod

59 ety of retinal disorders including monogenic retinal dystrophies, age-related macular degeneration, a

60 ing were similar to those found in heritable retinal dystrophies and age-related macular degeneration

61 defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid re

62 nsfer therapy is the most promising cure for retinal dystrophies and has primarily been applied for r

63 te mutation is a frequent cause of inherited retinal dystrophies and is owing to the founder effect.

64 ults have implications for therapy for human retinal dystrophies and raise the possibility that rod a

65 he pathophysiology of P/rds-associated human retinal dystrophies and the development of therapeutic s

66 autosomal dominantly inherited condition of retinal dystrophy and bilateral coloboma, present in var

67 rited condition of chickens characterized by retinal dystrophy and blindness at hatch, with secondary

68 pose that BMP4 is a major gene for AM and/or retinal dystrophy and brain anomalies and may be a candi

69 ons in rhodopsin (RHO) are a common cause of retinal dystrophy and can be transmitted by dominant or

70 dbrain malformation variably associated with retinal dystrophy and cystic kidney disease.

71 agnosis and longitudinal characterization of retinal dystrophy and identification of genetic mutation

72 uncating LAMA1 mutations in combination with retinal dystrophy and mild cerebellar dysplasia without

73 Amaurosis, the severest form of early-onset retinal dystrophy and milder forms of retinal dystrophie

74 viduals also have high myopia, and some have retinal dystrophy and patchy increased T2-weighted fluid

75 al cancer, Carney complex, Doyne's honeycomb retinal dystrophy and several other diseases.

76 e as an animal model with early onset severe retinal dystrophy and severe retinyl ester deprivation.

77 GS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing

78 Five patients with different forms of retinal dystrophy and three control subjects were recrui

79 Some individuals with JS have retinal dystrophy and/or progressive renal failure chara

80 ; (3) other foveal changes (corresponding to retinal dystrophies); and (4) normal fovea (predicting i

81 acterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease.

82 e-related macular degeneration and inherited retinal dystrophies, aoong others.

83 Inherited retinal dystrophies are a group of genetically heterogen

84 Inherited retinal dystrophies are an important cause of blindness,

85 Retinal dystrophies are an overlapping group of genetica

86 Inherited retinal dystrophies are clinically and genetically heter

87 Outer retinal dystrophies are the major causes of incurable bl

88 Several forms of retinal dystrophy are caused by mutations in GUCA1A, the

89 ly, intellectual disability, and progressive retinal dystrophy are major features of autosomal recess

90 Macular cysts in retinal dystrophy are seen in retinopathies caused by mu

91 f photoreceptor cell death via apoptosis, in retinal dystrophies, are largely not understood.

92 n severe and early-onset autosomal recessive retinal dystrophy (arRD).

93 s from 4 unrelated families with early-onset retinal dystrophy as a primary manifestation underwent c

94 cause ABCA4-associated diseases are evolving retinal dystrophies, assessment of age at onset, accurat

95 to the understanding of the pathogenesis for retinal dystrophies associated with RPE65 mutations.

96 an autosomal dominant inheritance pattern of retinal dystrophy associated with a novel mutation in RA

97 Mitochondrial retinal dystrophy associated with the m.3243A>G mutation

98 R91W and Y368H, identified in patients with retinal dystrophies both abolished the isomerohydrolase

99 tein 1 (RPGRIP1) are mutated in a variety of retinal dystrophies but their functions are poorly under

100 tis Pigmentosa GTPase Regulator (RPGR) cause retinal dystrophy, but how this arises at a molecular le

101 he most common and severe forms of inherited retinal dystrophy, but the function of its protein produ

102 Non-CME macular cysts in retinal dystrophies can be differentiated from CME by a

103 recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes me

104 generated exome sequencing data in unsolved retinal dystrophy cases identified a homozygous variant

105 STGD1 is at the mild end of the spectrum of retinal dystrophies caused by ABCA4 mutations.

106 LCA1 is a severe form of retinal dystrophy caused by loss-of-function mutations i

107 ars at second administration) with inherited retinal dystrophy caused by RPE65 mutations, 1.71-4.58 y

108 AAV2-hRPE65v2) in individuals with inherited retinal dystrophy caused by RPE65 mutations.

109 d LCA but potentially many other subtypes of retinal dystrophy caused by splicing mutations.

110 horoidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of cir

111 eration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retina

112 al dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening i

113 tients were collected from 8 families with a retinal dystrophy characterized by tiny, yellow-white do

114 t cystoid macular dystrophy is a progressive retinal dystrophy, characterized primarily by early-onse

115 ophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading caus

116 al ciliopathy phenotypes (curved body shape, retinal dystrophy, coloboma, and decreased cilia) in a C

117 by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.

118 The grade of mitochondrial retinal dystrophy correlated significantly with both age

119 Variable features include retinal dystrophy, cystic kidney disease, and liver fibr

120 row-derived mononuclear cells for hereditary retinal dystrophy demonstrated no evidence of toxicity w

121 alattia leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) have been linked to a missense

122 Autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) is characterised by the presenc

123 alattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant

124 iple neoplasia syndrome, and Doyne honeycomb retinal dystrophy (DHRD), a disease leading to blindness

125 PP), Carney complex (CNC), Doyne's honeycomb retinal dystrophy (DHRD), and one form of familial dysle

126 To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular

127 etinitis Pigmentosa is a group of hereditary retinal dystrophy disorders associated with progressive

128 Retinal dystrophies display a considerably wide range of

129 der genes should be considered as a cause of retinal dystrophy even when systemic features are mild.

130 y, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver

131 ently, we tested a panel of 55 probands with retinal dystrophy for TTLL5 mutations; one proband had a

132 Fifty-five patients with CRB1-associated retinal dystrophies from 16 families.

133 RPE65 mutations cause a spectrum of blinding retinal dystrophies from severe early-onset disease to m

134 Here, we show that a homolog of the human retinal dystrophy gene Retinal Degeneration 3 (RD3) is a

135 ollege of Surgeons rats with a defect in the retinal dystrophy gene).

136 ls with spontaneously occurring mutations in retinal dystrophy genes are an invaluable resource for p

137 Patients with different retinal dystrophies harboring two misfolding alleles exh

138 inopathy, diabetic retinopathy and inherited retinal dystrophies has been successfully achieved using

139 Understanding the etiology of retinal dystrophies has improved remarkably over the pas

140 The genetic locus for this retinal dystrophy has been mapped to 7p15.3, but the inv

141 Mouse mutants with retinal dystrophies have provided a valuable resource to

142 riant as the underlying cause of early-onset retinal dystrophy in each family.

143 congenital amaurosis (LCA), the most severe retinal dystrophy in early childhood.

144 cts, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive.

145 The mechanisms underlying retinal dystrophy in Usher syndrome type I (USH1) remain

146 As inherited retinal dystrophies (IRD) are characterized by dysfuncti

147 Inherited Retinal dystrophy (IRD) is a broad group of inherited re

148 Inherited retinal dystrophies (IRDs) are a clinically and genetica

149 Inherited retinal dystrophies (iRDs) are a group of genetically an

150 ibit partial loss of vision due to inherited retinal dystrophies (IRDs).

151 entosa (RP), the commonest form of inherited retinal dystrophies is a clinically and genetically hete

152 developmental delay with an uncharacterized retinal dystrophy is caused by TRNT1.

153 RP is a retinal dystrophy leading primarily to the progressive d

154 ons in RLBP1 have been associated with other retinal dystrophies, leading us to hypothesize that RLBP

155 RDH12 has been linked to the early-onset retinal dystrophy Leber congenital amaurosis, whereas RD

156 of clinical phenotypes, including congenital retinal dystrophy (Leber) and progressive diseases such

157 GC1 found in a patient with a severe form of retinal dystrophy, Leber congenital amaurosis (LCA).

158 utations in RPGRIP were found to lead to the retinal dystrophy, Leber congenital amaurosis.

159 ositional cloning approach to study the rdy (retinal dystrophy) locus of the RCS rat.

160 Inheritance of this mutation causes the retinal dystrophy malattia leventinese.

161 by's fundus dystrophy (SFD), Doyne honeycomb retinal dystrophy/malattia Leventinese (DHRD), and autos

162 herited macular degeneration Doyne honeycomb retinal dystrophy/Malattia Leventinese is thought to be

163 me for the development of therapies for some retinal dystrophies may be in the years hence, gene ther

164 strophy malattia leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD).

165 6del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain anomalies, and polydact

166 on ('molar tooth sign'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and

167 systemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfu

168 genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impai

169 ogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformat

170 ined in retinal photic injury in rats and in retinal dystrophy of Royal College of Surgeons (RCS) rat

171 MLIV should be considered in patients with retinal dystrophy of unknown cause and screened for usin

172 -of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous l

173 ction mutation of MERTK (2q14.1) in a second retinal dystrophy patient.

174 We screened 267 retinal dystrophy patients for mutations in LRAT and ide

175 e like-1 gene (ASRGL1), segregating with the retinal dystrophy phenotype in the study pedigree.

176 nce that mutation of Mertk underlies the RCS retinal dystrophy phenotype, and that the phenotype can

177 e primary features of which include obesity, retinal dystrophy, polydactyly, hypogenitalism, learning

178 rder predominantly characterized by obesity, retinal dystrophy, polydactyly, learning difficulties, h

179 le clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, developmental d

180 utosomal recessive disorder characterized by retinal dystrophy, polydactyly, obesity, hypogonadism, r

181 troretinography showed him to have a typical retinal dystrophy predominantly affecting rod and bipola

182 unctional vision in RPE65-mediated inherited retinal dystrophy previously medically untreatable.

183 Retinal dystrophy (RD) is a broad group of hereditary di

184 autosomal recessive, childhood-onset severe retinal dystrophy (RDH12).

185 hat the gene Mertk likely corresponds to the retinal dystrophy (rdy) locus of the RCS rat.

186 Our study describes a retinal dystrophy-related phenotype spectrum as well as

187 identified a group of families exhibiting a retinal dystrophy reminiscent of retinitis punctata albe

188 essive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellec

189 The inherited retinal dystrophies represent a large and heterogenous g

190 Many retinal dystrophies result in photoreceptor loss, but th

191 amaurosis (LCA) is the most severe inherited retinal dystrophy resulting in markedly impaired vision

192 The genetic defect, known as rdy (retinal dystrophy), results in failure of the retinal pi

193 y associated with severe autosomal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-

194 cing of DRAM2 in 322 unrelated probands with retinal dystrophy revealed one European subject with com

195 eover TTLL5 disease mutants that cause human retinal dystrophy show impaired glutamylation of RPGR(OR

196 atures demonstrated a severe infantile onset retinal dystrophy, similar to Leber congenital amaurosis

197 -onset retinal dystrophy and milder forms of retinal dystrophies such as juvenile retinitis pigmentos

198 cause Leber congenital amaurosis, a group of retinal dystrophies that represent the most common genet

199 r congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness.

200 Retinitis pigmentosa is a progressive retinal dystrophy that causes irreversible visual impair

201 amaurosis (LCA) is a hereditary early-onset retinal dystrophy that is accompanied by severe macular

202 -linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness.

203 al amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogene

204 To assess the involvement of ABCR in these retinal dystrophies, the gene was screened in a panel of

205 e than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in

206 Eighteen consecutive patients affected by retinal dystrophies underwent a complete ophthalmologica

207 Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autos

208 The age at onset of retinal dystrophy was variable.

209 disease pathology and mechanisms involved in retinal dystrophy, we generated a knock-in (Ctrp5(+/-))

210 associated with various autosomal recessive retinal dystrophies, whereas heterozygous ABCA4 mutation

211 ponsible for early-onset autosomal recessive retinal dystrophy, which results in profound retinal pat

212 the RPE65 gene are associated with inherited retinal dystrophies with unknown mechanisms.

213 B1 lead to a spectrum of autosomal recessive retinal dystrophies with variable phenotypes suggesting

214 PE is an autosomal dominant, fully penetrant retinal dystrophy with a preclinical stage, an onset aft

215 ibe five families affected by an adult-onset retinal dystrophy with early macular involvement and ass

216 Six patients (21%) had grade 1 retinal dystrophy with fine pigment abnormalities that w

217 le inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunct

218 also identified four cases, some of whom had retinal dystrophy, with "low-penetrant" mutations in bot

219 e neparvovec in participants whose inherited retinal dystrophy would otherwise progress to complete b