ライフサイエンスコーパス: retinal dystrophy

1 are associated with mild to severe forms of retinal dystrophy.

2 = 746) with confirmed diagnoses of inherited retinal dystrophy.

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

4 to determine the molecular etiology of their retinal dystrophy.

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

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

7 in diagnosing this rare autosomal recessive retinal dystrophy.

8 ular cystinosis, foveoschisis and pigmentary retinal dystrophy.

9 is characterized by early-onset degenerative retinal dystrophy.

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

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

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

13 ecognized as an important cause of inherited retinal dystrophy.

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

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

16 12 to severe early-onset autosomal recessive retinal dystrophy.

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

18 h autosomal recessive childhood-onset severe retinal dystrophy.

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

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

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

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

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

24 h cone-rod dystrophy (SMD-CRD), and isolated retinal dystrophy.

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

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

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

28 gene replacement in RPE65-mediated inherited retinal dystrophy.

29 ophy, learning disability, microcephaly, and retinal dystrophy.

30 zebrafish with CFAP20 mutations both exhibit retinal dystrophy.

31 d efficacy in patients with RLBP1-associated retinal dystrophy.

32 eye patterning defects, including congenital retinal dystrophy.

33 One mutation carrier revealed no signs of a retinal dystrophy.

34 on loss in individuals with RDH12-associated retinal dystrophy.

35 assessments to characterize the features of retinal dystrophy.

36 lead to a clinically severe form of X-linked retinal dystrophy.

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

38 considered in children with high myopia and retinal dystrophy.

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

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

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

42 ghts a pathway previously uncharacterized in retinal dystrophy.

43 LCA is a severe early onset retinal dystrophy.

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

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

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

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

48 ng therapeutic target for neuroprotection in retinal dystrophies.

49 design of cell-based therapies for treating retinal dystrophies.

50 appear to be useful tools for characterizing retinal dystrophies.

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

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

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

54 eting a wider severity spectrum of inherited retinal dystrophies.

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

56 death is a major cause of blindness in many retinal dystrophies.

57 een linked with the aetiology of a number of retinal dystrophies.

58 tions in RPE65 are associated with inherited retinal dystrophies.

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

60 at included 22 patients with CRB1-associated retinal dystrophies.

61 h autosomal recessive and dominant inherited retinal dystrophies.

62 reatment outcomes in patients with inherited retinal dystrophies.

63 and genetics, for the diagnosis of inherited retinal dystrophies.

64 pattern dystrophy and up to 5% of inherited retinal dystrophies.

65 e human treatment trials for CRB1-associated retinal dystrophies.

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

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

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

69 gh priority in families with highly variable retinal dystrophies.

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

71 e imaging tool in the diagnosis of inherited retinal dystrophies.

72 which distinguishes this disorder from other retinal dystrophies.

73 tients with a variety of presumed hereditary retinal dystrophies.

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

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

76 ber 22, 2019: 362.70 (unspecified hereditary retinal dystrophy), 362.74 + H35.52 (pigmentary retinal

77 inal dystrophy), 362.74 + H35.52 (pigmentary retinal dystrophy), 362.76 + H35.54 (dystrophies primari

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

79 apy holds promise for treatment of inherited retinal dystrophies, a group of rare genetic disorders c

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

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

82 e systematic measures are required to assess retinal dystrophy accurately in ZSD, including functiona

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

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

85 pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 ind

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

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

88 Retinal dystrophies and age-related macular degeneration

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

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

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

92 Inherited retinal dystrophies and late-stage age-related macular d

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

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

95 the patients' phenotypic defects, including retinal dystrophy and behavioral abnormalities.

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

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

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

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

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

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

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

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

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

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

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

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

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

109 DNA analysis due to molecularly unconfirmed retinal dystrophy and who were subsequently identified t

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

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

112 uggest an uncharacterised pathomechanism for retinal dystrophy, and potentially for motile and non-mo

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

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

115 Inherited retinal dystrophies are a group of genetically heterogen

116 Inherited retinal dystrophies are an important cause of blindness,

117 Retinal dystrophies are an overlapping group of genetica

118 Inherited retinal dystrophies are clinically and genetically heter

119 Inherited retinal dystrophies are hereditary diseases which have i

120 Ischemic retinal dystrophies are leading causes of acquired visio

121 Outer retinal dystrophies are the major causes of incurable bl

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

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

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

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

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

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

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

129 role of FATP4 in the disease progression of retinal dystrophies associated with RPE65 mutations is c

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

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

132 is a clinically and genetically progressive retinal dystrophy associated with severe visual impairme

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

134 , and by the expression of PCARE harboring a retinal dystrophy-associated missense mutation.

135 nal dystrophy from the clinics for inherited retinal dystrophies at the University of Tuebingen and t

136 icate that young children with AIPL1-related retinal dystrophy benefited substantially from subretina

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

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

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

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

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

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

143 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D vari

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

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

146 e therapy clinical trial in 12 patients with retinal dystrophy caused by biallelic mutations in the r

147 Retinal dystrophy caused by genetic deficiency of AIPL1

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

149 ber congenital amaurosis type 10 is a severe retinal dystrophy caused by mutations in the CEP290 gene

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

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

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

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

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

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

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

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

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

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

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

161 s through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were u

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

163 ter segment homeostasis, leading to cone-rod retinal dystrophy (CRRD).

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

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

166 ferent forms of MD including Doyne honeycomb retinal dystrophy (DHRD) and age-related MD (AMD).

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

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

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

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

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

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

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

174 Retinal dystrophies display a considerably wide range of

175 7-year-old patient with advanced early-onset retinal dystrophy due to a heterozygous deletion of exon

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

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

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

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

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

181 genotype of patients with PRPF31-associated retinal dystrophy from the clinics for inherited retinal

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

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

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

185 Patients with different retinal dystrophies harboring two misfolding alleles exh

186 apies for blinding inherited and age-related retinal dystrophies has been reported in recent years.

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

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

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

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

191 o unrelated families with X-linked inherited retinal dystrophy, identification of the causative varia

192 ifferentiation and replacement therapies for retinal dystrophies in humans.

193 d rare and first time found segregating with retinal dystrophies in Pakistani consanguineous families

194 document the genetic background of inherited retinal dystrophies in the country.

195 diagnosis was LCA and/or early onset severe retinal dystrophy in 82% (19/23), followed by retinitis

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

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

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

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

200 Participants presented with retinal dystrophy including maculopathy, cone dystrophy,

201 imate cause of central blindness in numerous retinal dystrophies, including macular degenerative dise

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

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

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

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

206 Inherited retinal dystrophies (IRDs) are characterized by their hi

207 Inherited retinal dystrophies (IRDs) constitute one of the most he

208 Inherited retinal dystrophies (IRDs) lead to significant vision im

209 Inherited retinal dystrophies (IRDs) present a challenge in clinic

210 Inherited retinal dystrophies (IRDs), displaying pronounced geneti

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

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

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

214 Retinal dystrophy is not a common phenotypic feature.

215 targardt disease (STGD1), known as inherited retinal dystrophy, is caused by ABCA4 mutations.

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

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

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

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

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

221 s in the AIPL1 gene cause a severe inherited retinal dystrophy, Leber congenital amaurosis type 4 (LC

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

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

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

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

226 a dominant mutation causing Doyne honeycomb retinal dystrophy/malattia leventinese (DHRD/ML), a rare

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

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

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

230 6del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain anomalies, and polydact

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

232 onduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal

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

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

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

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

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

238 ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhi

239 K1[Y254C] mutations underlie ROSAH syndrome (retinal dystrophy, optic nerve oedema, splenomegaly, anh

240 and enolase proteins with a negative genetic retinal dystrophy panel.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

258 The inherited retinal dystrophies represent a large and heterogenous g

259 Many retinal dystrophies result in photoreceptor loss, but th

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

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

262 s and lens-associated conditions (70 genes), retinal dystrophies (RET; 235 genes), and albinism (15 g

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

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

265 gene C2orf71, which is mutated in inherited retinal dystrophy (RP54).

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

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

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

269 s to irreversible vision loss in humans with retinal dystrophies such as retinitis pigmentosa.

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

271 etinitis pigmentosa (RP) is a common form of retinal dystrophy that can be caused by mutations in any

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

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

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

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

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

277 n Leber's congenital amaurosis, a congenital retinal dystrophy that results in early vision loss.

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

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

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

281 ned a cohort of 2216 families with inherited retinal dystrophies using classical molecular techniques

282 In CRB1-associated retinal dystrophies, visual acuity and visual field meas

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

284 The age at onset of retinal dystrophy was variable.

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

286 Patients with inherited retinal dystrophies were included.

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

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

289 Five patients diagnosed with profound retinal dystrophy who have undergone implantation of ret

290 who were diagnosed with or suspected to have retinal dystrophies, who did not carry this variant, wer

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

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

293 n photoreceptors, and loss of TTLL5 leads to retinal dystrophy with a cone phenotype.

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

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

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

297 a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia.

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

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

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