ライフサイエンスコーパス: macular dystrophy

1 ve a predilection for disease in the macula (macular dystrophies).

2 autosomal dominant retinitis pigmentosa and macular dystrophy.

3 argardt disease, a common hereditary form of macular dystrophy.

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

5 ared FAF were identified in Best vitelliform macular dystrophy.

6 am can also help in early screening of focal macular dystrophy.

7 ted in Stargardt disease (STGD1), a juvenile macular dystrophy.

8 tegy to alleviate or delay the onset of this macular dystrophy.

9 st1) chloride channel cause Best vitelliform macular dystrophy.

10 n-1, a protein that when mutated causes Best macular dystrophy.

11 gene, associated with a late-onset dominant macular dystrophy.

12 ed in the RPE and, when mutated, causes Best macular dystrophy.

13 ch as cystic fibrosis, hyperinsulinemia, and macular dystrophy.

14 macular degeneration called Best vitelliform macular dystrophy.

15 ed in the RPE and, when mutated, causes Best macular dystrophy.

16 mentosa and different forms of cone-dominant macular dystrophies.

17 onservation of most residues associated with macular dystrophies.

18 ix attachment region (S/MAR) and vitelliform macular dystrophy 2 (VMD2) promoter to target the RPE, d

19 ients presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a unilateral Best v

20 ansgenic mice carrying the human vitelliform macular dystrophy-2 (VMD2) promoter (P(VMD2))-directed r

21 a pathologic feature of recessive Stargardt macular dystrophy, a blinding disease caused by dysfunct

22 d by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depresse

23 f dominant cerebellar ataxia with pigmentary macular dystrophy, a review of the pathogenesis of carci

24 y (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular

25 epithelium in nine patients with Stargardt's macular dystrophy (age >18 years) and nine with atrophic

26 l disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina,

27 ABCA4 are responsible for several recessive macular dystrophies and susceptibility to age related ma

28 netic basis and phenotype of childhood onset macular dystrophies and to summarize current attempts to

29 the two dominantly inherited disorders, Best macular dystrophy and autosomal-dominant vitreoretinocho

30 Stargardt disease (STGD) is a juvenile-onset macular dystrophy and can be inherited in an autosomal r

31 s particular variant can also cause dominant macular dystrophy and cone-rod dystrophy, which primaril

32 pithelium cells in patients with Stargardt's macular dystrophy and dry age-related macular degenerati

33 pithelium (RPE) in patients with Stargardt's macular dystrophy and dry age-related macular degenerati

34 disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased cent

35 In cases 2 (macular dystrophy) and 3 (lattice), viscodissection was

36 tis pigmentosa, 35 families with unspecified macular dystrophies, and 116 families with pattern dystr

37 h myopia, trauma, choroidal tumors, familial macular dystrophies, and inflammatory retinochoroidopath

38 atients showed a unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral subcli

39 pigment epithelium (RPE) at any stage of the macular dystrophy, and this epithelium was well preserve

40 he study eye of the patient with Stargardt's macular dystrophy, and vision also seemed to improve in

41 clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern dystrophy.

42 ch as cystic fibrosis, hyperinsulinemia, and macular dystrophy, are traced to defects in ABC transpor

43 nts with ABCA4 mutations or other retinal or macular dystrophies associated with lipofuscin accumulat

44 Patients affected by Best vitelliform macular dystrophy at different stages of the disease wer

45 ne cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopath

46 dystrophy (BVMD) and adult-onset vitelliform macular dystrophy (AVMD).

47 The VMD2 gene, mutated in Best macular dystrophy (BMD) encodes bestrophin, a 68-kDa bas

48 Best macular dystrophy (BMD), also known as vitelliform macul

49 inical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new la

50 in hBest1 cause the autosomal-dominant Best macular dystrophy (BMD).

51 resent specific features distinct from other macular dystrophies, but closer to those reported in fun

52 lar degeneration, including Best vitelliform macular dystrophy (BVMD) and adult-onset vitelliform mac

53 laris (CC) in patients with Best vitelliform macular dystrophy (BVMD) by means of optical coherence t

54 It has been proposed that Best vitelliform macular dystrophy (BVMD) is caused by dysfunction in the

55 y of vitelliform lesions in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical c

56 bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular

57 outer retinal structure in Best vitelliform macular dystrophy (BVMD).

58 is readily distinguished from other juvenile macular dystrophies by the universally thin and sparse s

59 report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations.

60 Best disease is a macular dystrophy caused by mutations in the BEST1 gene.

61 argardt type 3 (STGD3) disease is a juvenile macular dystrophy caused by mutations in the ELOVL4 (Elo

62 targardt disease is a phenotypically diverse macular dystrophy caused by the autosomal recessive inhe

63 degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more sever

64 Dominant cystoid macular dystrophy could be classified into 3 stages, bas

65 Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA

66 JMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

67 milies found no pathogenic variants in known macular dystrophy genes.

68 ted with the major causes of childhood onset macular dystrophies have now been identified and current

69 eases in humans: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectro

70 in patients with hypotrichosis with juvenile macular dystrophy (HJMD) and enabled the authors to esta

71 Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting i

72 Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disor

73 herin, result in hypotrichosis with juvenile macular dystrophy (HJMD), an autosomal recessive disorde

74 ELOVL4 causes macular dystrophy in this large family distributed throu

75 dentifies CTNNA1 gene variants as a cause of macular dystrophy, indicates that CTNNA1 is involved in

76 Best vitelliform macular dystrophy is a dominantly inherited, early onset

77 Dominant cystoid macular dystrophy is a progressive retinal dystrophy, ch

78 Best vitelliform macular dystrophy is an inherited autosomal dominant, ju

79 Subclinical Best vitelliform macular dystrophy is characterized by the absence of bio

80 or bestrophin, whose gene is mutated in Best macular dystrophy, is described in this review.

81 Macular dystrophy leads to progressive loss of central v

82 fibulin mutant, R345W fibulin-3, causes the macular dystrophy malattia leventinese by increased endo

83 P1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb r

84 ion (AMD), myopia, pachychoroid disease, and macular dystrophy, manifesting SHRM on optical coherence

85 ily excluded linkage with the North Carolina macular dystrophy (MCDR1) locus.

86 lated macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision lo

87 ining consecutive stages of Best vitelliform macular dystrophy (namely vitelliform, pseudohypopyon, v

88 Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a fail

89 eatures of both diseases are sparse hair and macular dystrophy of the retina, while only EEM syndrome

90 L567F) found in patients having adult-onset macular dystrophies or in BVMD patients having normal el

91 rely reduced in hiPSC-RPE cells derived from macular dystrophy patients with pathologic BEST1 mutatio

92 mutation in the ELOVL4 gene segregating with macular dystrophy phenotypes confirms the role of this g

93 been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, i

94 OVL4 gene variation in adSTGD-like and other macular dystrophy phenotypes segregating in a large unre

95 in ELOVL4 to date, which is associated with macular dystrophy phenotypes.

96 by the subclinical form of Best vitelliform macular dystrophy (positive testing for BEST1 gene mutat

97 Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from sing

98 Stargardt-like macular dystrophy (STGD3) is a dominantly inherited juve

99 Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal domi

100 n which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 6

101 by's fundus dystrophy, an autosomal-dominant macular dystrophy that phenotypically resembles AMD.

102 P/rds have been linked to different forms of macular dystrophy; the most common one is substitution o

103 tein, which is involved in human Stargardt's macular dystrophy type 3 (STGD3).

104 t hBest1 mutations produce variable forms of macular dystrophy via dysfunction of hBest1 Cl(-) channe

105 Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an e

106 rminus of 8q, including atypical vitelliform macular dystrophy (VMD1) and epidermolysis bullosa simpl

107 Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystro

108 r dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal d

109 Occult macular dystrophy was diagnosed based on genetic and mul

110 In some families, pericentral RP or macular dystrophy were found in family members while wid

111 nal pigment epithelium (RPE) and causes Best macular dystrophy when mutated.

112 f ABCR function is responsible for Stargardt macular dystrophy, which is associated with accumulation

113 he role of this gene in a subset of dominant macular dystrophies with a wide range of clinical expres

114 protein, were identified in 2 families with macular dystrophy with a normal or subnormal ERG, but re

115 severe and a mild variant cause nonsyndromic macular dystrophy with central cone involvement, and 2 s

116 fects in 2 families with autosomal recessive macular dystrophy with central cone involvement.

117 el cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.

118 nusual, previously unreported, findings of a macular dystrophy with relative sparing of the retinal p

119 The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottl