ライフサイエンスコーパス: night blindness

1 inical vitamin A deficiency (Bitot spots and night blindness).

2 tribute to the constitutive activity causing night blindness.

3 ensitize rod photoreceptor cells and lead to night blindness.

4 rget through which the retinoic acids induce night blindness.

5 ected in autosomal dominant human congenital night blindness.

6 ith the Nougaret form of dominant stationary night blindness.

7 l molecular mechanism in dominant stationary night blindness.

8 deficiency that causes congenital stationary night blindness.

9 se have Oguchi disease, a form of stationary night blindness.

10 85 with recessive RP, and 10 with stationary night blindness.

11 li women with (cases) and without (controls) night blindness.

12 e identified in the patients with stationary night blindness.

13 netic heterogeneity in congenital stationary night blindness.

14 efect is implicated as a cause of stationary night blindness.

15 eceptor molecule rhodopsin causes congenital night blindness.

16 tinitis pigmentosa, and 3.7% with congenital night blindness.

17 the cause of complete congenital stationary night blindness.

18 mission, resulting in a novel mouse model of night blindness.

19 tinitis pigmentosa and congenital stationary night blindness.

20 disease onset, and presence of nystagmus or night blindness.

21 cuity, and myopia from birth and experienced night blindness.

22 y suppression, such as congenital stationary night blindness.

23 een linked to autosomal-recessive stationary night blindness.

24 otinib was limited by toxicities, especially night blindness.

25 were diarrhea, skin rash, hyperglycemia, and night blindness.

26 is pigmentosa (RP) and congenital stationary night blindness.

27 of CORD except that patients did not report night blindness.

28 only 54% of the patients with CSNB2 reported night blindness.

29 ion and are a model of congenital stationary night blindness.

30 teins lead to complete congenital stationary night blindness.

31 activity and leads to congenital stationary night blindness.

32 an autosomal recessive congenital stationary night blindness.

33 and is referred to as congenital stationary night blindness.

34 factors resulting in retinal dysfunction and night blindness.

35 rods, provide an animal model for congenital night blindness.

36 Congenital stationary night blindness 1, despite different causative mutations

37 Congenital stationary night blindness 2 caused by mutations in CABP4 merely sh

38 Congenital stationary night blindness 2 was primarily caused by mutations in C

39 The most common first symptom was night blindness (68.8%).

40 reduced, but did not eliminate, gestational night blindness (7.1% for vitamin A vs 9.2% for placebo

41 We have isolated a dominant mutation, night blindness a (nba), that causes a slow retinal dege

42 r the complete form of congenital stationary night blindness, a human disorder in which patients have

43 cy may result in abnormal dark adaptation or night blindness, a symptom primarily of vitamin A defici

44 nown rhodopsin mutants that cause congenital night blindness, A292E and G90D, have been shown in vitr

45 inal diseases, such as congenital stationary night blindness, albinism, blue cone monochromatism, and

46 rnal death during and after a pregnancy with night blindness among women participating in a cluster-r

47 Subjects were 877 women with night blindness and 9,545 women without night blindness

48 vessels, ultimately resulting in progressive night blindness and constriction of the visual field.

49 vessels, ultimately resulting in progressive night blindness and constriction of the visual field.

50 Although night blindness and delayed dark adaptation are hallmark

51 tary retinal diseases that often starts with night blindness and eventually leads to legal blindness.

52 le, children with ESCS had an early onset of night blindness and hyperopia but no nystagmus.

53 fer from vitamin A deficiency are plagued by night blindness and longer vision-restoration times.

54 neration of the peripheral retina leading to night blindness and loss of peripheral visual field.

55 neration of the peripheral retina leading to night blindness and loss of visual fields.

56 ssociated with a congenital variant of human night blindness and other closely related nonstationary

57 ally heterogeneous disorder characterized by night blindness and peripheral vision loss, and in many

58 RP is characterized by night blindness and progressive degeneration of the midp

59 osa (adRP), a rare disorder characterized by night blindness and progressive vision loss.

60 nal diseases including congenital stationary night blindness and retinitis pigmentosa.

61 ned for mutations with congenital stationary night blindness and RP genotyping arrays.

62 Although the predominant clinical symptom of night blindness and the electroretinography results sugg

63 sociated with greater awareness of cataract, night blindness and trachoma (p<0.05).

64 with lower awareness of cataract, glaucoma, night blindness and trachoma (p<0.05).

65 of cataract, glaucoma, diabetic retinopathy, night blindness and trachoma (p<0.05).

66 of cataract, glaucoma, diabetic retinopathy, night blindness and trachoma compared to those from a se

67 tic condition that causes visual symptoms of night-blindness and photopsias.

68 presented with photopsias, 56% (14/25) with night blindness, and 56% (14/25) with loss of peripheral

69 carrying LCA5 mutations presented nystagmus, night blindness, and progressive loss of visual acuity a

70 ummary statistics on iron deficiency anemia, night blindness, and risk of zinc deficiency are summari

71 of cataract, glaucoma, diabetic retinopathy, night blindness, and trachoma.

72 imately 1:16,000), and congenital stationary night blindness (approximately 1:18 000).

73 hanisms by which human NCKX1 mutations cause night blindness are not understood.

74 , such as retinitis pigmentosa or congenital night blindness, are linked to rhodopsin malfunctions.

75 racterized in the early stages of disease by night blindness as a result of rod photoreceptor loss, p

76 T94I may play a causative role in congenital night blindness as has been suggested by the Oprian and

77 ized, autosomal recessive form of congenital night blindness associated with a negative ERG waveform.

78 ease is a rare type of congenital stationary night blindness associated with an abnormal fundus appea

79 We previously isolated a dominant mutation, night blindness b (nbb), which causes a late onset of re

80 We describe here a dominant mutation, night blindness b (nbb), which causes an age-related vis

81 omolog of the Stil gene in zebrafish mutant (night blindness b, nbb), which showed neural defects in

82 to a range of clinical phenotypes including night blindness because of markedly slowed rod dark adap

83 All patients had night blindness (before age 6 years in 10).

84 sed in the treatment of acne but that causes night blindness, binds to RPE65 with a K(D) of 195 nM.

85 Progressive MA in addition to congenital night blindness can be identified in adult patients with

86 Night blindness can result from impaired photoreceptor f

87 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers

88 anding the molecular mechanism of congenital night blindness caused by the G90D mutation in human rho

89 Complete congenital stationary night blindness (cCSNB) is a clinically and genetically

90 Complete congenital stationary night blindness (cCSNB) is associated with loss of funct

91 dus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regenera

92 atus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, whi

93 e been associated with congenital stationary night blindness, considered to be a relatively nonprogre

94 ized by progressive photoreceptor cell loss, night blindness, constriction of the visual field, and p

95 eta has been linked to congenital stationary night blindness (CSNB) in a large Danish family (Rambusc

96 rectly associated with congenital stationary night blindness (CSNB) in Appaloosa horses.

97 Congenital stationary night blindness (CSNB) is a heterogeneous group of non-p

98 Congenital stationary night blindness (CSNB) is an inherited retinal disease t

99 Congenital stationary night blindness (CSNB) is an inherited stationary retina

100 ic characterization of congenital stationary night blindness (CSNB) patients is needed for future the

101 tagmus associated with congenital stationary night blindness (CSNB) results from primary deficits in

102 ng of diseases such as congenital stationary night blindness (CSNB) that exhibit defects in ON-bipola

103 ocular albinism (OA), congenital stationary night blindness (CSNB), and blue-cone monochromatism (BC

104 ction resembling human congenital stationary night blindness (CSNB), characterized by the loss of the

105 Congenital stationary night blindness (CSNB), in the complete form, is caused

106 without cells included congenital stationary night blindness (CSNB), LCA, Stargardt disease, and blue

107 ions causing recessive congenital stationary night blindness (CSNB), recessive Leber's congenital ama

108 complete form of human congenital stationary night blindness (CSNB).

109 tinitis pigmentosa and congenital stationary night blindness (CSNB).

110 patients with complete congenital stationary night blindness (CSNB1), where signaling through the ON

111 form of human X-linked congenital stationary night blindness (CSNB1).

112 n humans with complete congenital stationary night blindness (CSNB1).

113 ith that of incomplete congenital stationary night blindness (CSNB2) patients.

114 wn to cause incomplete congenital stationary night blindness (CSNB2).

115 (RP) is a disease that initially presents as night blindness due to genetic deficits in the rod photo

116 s a recessively inherited form of stationary night blindness due to malfunction of the rod photorecep

117 Night blindness due to vitamin A deficiency is common du

118 We describe a case of night blindness due to vitamin A deficiency resulting fr

119 ated hyporetinolemia may predispose women to night blindness during pregnancy in Nepal.

120 These findings show that night blindness during pregnancy is a risk factor of bot

121 ced but failed to eliminate the incidence of night blindness during pregnancy, suggesting a role for

122 with night blindness and 9,545 women without night blindness during pregnancy.

123 retinitis pigmentosa (RP) typically develop night blindness early in life due to loss of rod photore

124 Patients with congenital stationary night blindness enjoy normal daytime vision, which is me

125 man Hermansky-Pudlak syndrome and congenital night blindness, for which the pearl mouse is an appropr

126 Vitamin A deficiency and resulting night blindness have previously been reported in patient

127 world's population with consequences such as night blindness, higher child mortality, anemia, poor pr

128 so known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited

129 forms part of the differential diagnosis of night blindness in childhood.

130 CHM is characterized by night blindness in early childhood, progressing to perip

131 known to cause autosomal dominant congenital night blindness in humans.

132 psin mutation is known to produce congenital night blindness in humans.

133 dominant retinitis pigmentosa and congenital night blindness in humans.

134 GUCY2D had a later and milder rod form with night blindness in infancy as the first symptom.

135 e, an autosomal recessive form of stationary night blindness in man characterized in part by delayed

136 ity of rhodopsin, potentially accounting for night blindness in the early stages of RP.

137 dicated a similar clinical presentation with night blindness in the first decade and progressive peri

138 he relative risk among women with or without night blindness in the vitamin A/beta-carotene group was

139 One form of dominantly inherited congenital night blindness is eponymously named "Nougaret' because

140 The Nougaret form of dominant stationary night blindness is linked to a G38D mutation in the rod

141 argardt's disease, and congenital stationary night blindness is presented, along with a guide for cli

142 s involved in rod phototransduction cascade; night blindness is the only symptom and eye examination

143 hic diseases, is characterized by late-onset night blindness, loss of peripheral vision, and diminish

144 naptic disruption differed from other murine night-blindness models with an electronegative electrore

145 , the one phenotype shared by all congenital night blindness mutants that is different from the wild-

146 chromophore), like the other known rhodopsin night blindness mutants, is not active in the dark and h

147 However, in contrast to the other night blindness mutants, the T94I MII intermediate decay

148 nd compared to the two other known rhodopsin night blindness mutants.

149 This effect does not appear to be general to night blindness mutations as the two other mutants (A292

150 examination of the effect of three rhodopsin night blindness mutations on the rate of association of

151 ople with ESCS also suffer visual loss, with night blindness occurring from early in life, varying de

152 ypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, h

153 in arrestin are a cause of RP or stationary night blindness other than Oguchi disease.

154 Complete congenital stationary night blindness patients, specifically those with NYX an

155 reported to be associated with a congenital night blindness phenotype in a large Irish pedigree.

156 itutively active species responsible for the night blindness phenotype is unclear.

157 rited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinc

158 ciated retinopathy (MAR) is characterized by night blindness, photopsias, and a selective reduction o

159 1.65, 1.43-1.91), and congenital stationary night blindness (POR 2.58, CI 2.11-3.15) compared to fem

160 This recapitulates the night blindness presentation in patients with RLBP1 muta

161 The loss of GPR179 in a mouse model of night blindness prevented targeting of RGS to the postsy

162 al degenerations characterized clinically by night blindness, progressive constriction of the visual

163 splantation into a mouse model of stationary night-blindness, raising the critical question of whethe

164 ed with Fundus albipunctatus, a mild form of night blindness (RDH5) and an autosomal recessive, child

165 stered isotretinoin to rats to learn whether night blindness resulted from rod cell death or from rod

166 anguineous Egyptian families with history of night blindness since childhood underwent complete ophth

167 The affected patients had night blindness since early childhood, consistent with a

168 A classical night blindness symptom was reported in the proband sinc

169 sgenic mouse model for congenital stationary night blindness that expresses the G90D rhodopsin mutant

170 showed symptoms early in life, ranging from night blindness to decreased visual acuity, and were dia

171 with poorer awareness of cataract, glaucoma, night blindness, trachoma and diabetic retinopathy (p<0.

172 ocular diseases, namely cataract, glaucoma, night blindness, trachoma and diabetic retinopathy in Ne

173 nder (p<0.05) whereas awareness of cataract, night blindness, trachoma and diabetic retinopathy was a

174 in the development of congenital stationary night blindness type 1 (CSNB1).

175 gene cause incomplete congenital stationary night blindness type 2 (CSNB2), a non-progressive, clini

176 lyzed the effects of a congenital stationary night blindness type 2 (CSNB2)-causing mutation, I745T (

177 associated with human congenital stationary night blindness type-2.

178 In congenital stationary night blindness, type 2 (CSNB2)-a disorder involving the

179 , we have examined the mechanism of Nougaret night blindness using transgenic mice expressing TalphaG

180 Age at diagnosis; age at onset of night blindness, visual field loss, visual acuity loss,

181 nished generally many years before symptomic night blindness, visual-field scotomas, or decreased vis

182 cataract across the entire sample was 49.6%, night blindness was 48.3%, diabetic retinopathy was 29%,

183 wareness of cataract, glaucoma, trachoma and night blindness was associated with female gender (p<0.0

184 To elucidate the mechanism of Nougaret night blindness, we have examined the key functional pro

185 Supplement use and daily history of night blindness were obtained at home twice every week.

186 o the retinal disorder congenital stationary night blindness which is characterized by defective nigh

187 ly active and leads to congenital stationary night blindness, which is generally thought to be devoid

188 night vision of pregnant women who developed night blindness while routinely receiving either vitamin

189 The mother developed night blindness with undetectable serum vitamin A concen

190 ation led to progressive macular atrophy and night blindness, with nystagmus linked to CACNA1F.