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1 ve a predilection for disease in the macula (macular dystrophies).
2 cation of these patients as having inherited macular dystrophy.
3 macular degeneration called Best vitelliform macular dystrophy.
4 ed in the RPE and, when mutated, causes Best macular dystrophy.
5  autosomal dominant retinitis pigmentosa and macular dystrophy.
6 argardt disease, a common hereditary form of macular dystrophy.
7      All patients were diagnosed as having a macular dystrophy.
8 ic testing were performed in 2 families with macular dystrophy.
9    Of these 36 patients, 22 (61.1%) had only macular dystrophy.
10 t disease (STGD1), the most common inherited macular dystrophy.
11 (SCA34), neuroichthyosis, and Stargardt-like macular dystrophy.
12 genic alpha-catenin M-domain mutations drive macular dystrophy.
13 ild late-onset maculopathy resembling occult macular dystrophy.
14 and 8-20 points in patients with Stargardt's macular dystrophy.
15 ared FAF were identified in Best vitelliform macular dystrophy.
16 am can also help in early screening of focal macular dystrophy.
17 ted in Stargardt disease (STGD1), a juvenile macular dystrophy.
18 tegy to alleviate or delay the onset of this macular dystrophy.
19 st1) chloride channel cause Best vitelliform macular dystrophy.
20 n-1, a protein that when mutated causes Best macular dystrophy.
21     BEST1 mutations lead to Best vitelliform macular dystrophy.
22  gene, associated with a late-onset dominant macular dystrophy.
23 ed in the RPE and, when mutated, causes Best macular dystrophy.
24 ch as cystic fibrosis, hyperinsulinemia, and macular dystrophy.
25 onservation of most residues associated with macular dystrophies.
26 etter models than rodents for studying human macular dystrophies.
27 mentosa and different forms of cone-dominant macular dystrophies.
28 ]), cone-rod dystrophy (2 [9%]), or isolated macular dystrophy (1 [5%]).
29 with achromatopsia (3.3 mum/year) and occult macular dystrophy (1.2 mum/year).
30 ith achromatopsia (16.2 mum/year) and occult macular dystrophy (15.4 mum/year).
31 ix attachment region (S/MAR) and vitelliform macular dystrophy 2 (VMD2) promoter to target the RPE, d
32 ients presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a unilateral Best v
33 ansgenic mice carrying the human vitelliform macular dystrophy-2 (VMD2) promoter (P(VMD2))-directed r
34 dividuals included rod-cone dystrophy (60%), macular dystrophy (20%), cone-rod dystrophy (9%), cone d
35  a pathologic feature of recessive Stargardt macular dystrophy, a blinding disease caused by dysfunct
36 d by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depresse
37 f dominant cerebellar ataxia with pigmentary macular dystrophy, a review of the pathogenesis of carci
38 d SLC16A8), and 3 genes that cause inherited macular dystrophies (ABCA4, CTNNA1, and PRPH2).
39 y (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular
40 epithelium in nine patients with Stargardt's macular dystrophy (age >18 years) and nine with atrophic
41 l disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina,
42 iant in cohorts of patients with undiagnosed macular dystrophies and biological studies of its molecu
43  ABCA4 are responsible for several recessive macular dystrophies and susceptibility to age related ma
44 netic basis and phenotype of childhood onset macular dystrophies and to summarize current attempts to
45 the two dominantly inherited disorders, Best macular dystrophy and autosomal-dominant vitreoretinocho
46 Stargardt disease (STGD) is a juvenile-onset macular dystrophy and can be inherited in an autosomal r
47 s particular variant can also cause dominant macular dystrophy and cone-rod dystrophy, which primaril
48 pithelium cells in patients with Stargardt's macular dystrophy and dry age-related macular degenerati
49 pithelium (RPE) in patients with Stargardt's macular dystrophy and dry age-related macular degenerati
50 disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased cent
51 atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to tr
52 heral phenotype (54/144, 37.5%): n = 10 with macular dystrophy and macular flavimaculatus dystrophy (
53                                  In cases 2 (macular dystrophy) and 3 (lattice), viscodissection was
54 tis pigmentosa, 35 families with unspecified macular dystrophies, and 116 families with pattern dystr
55 h myopia, trauma, choroidal tumors, familial macular dystrophies, and inflammatory retinochoroidopath
56 atients showed a unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral subcli
57 ith Stargardt disease, achromatopsia, occult macular dystrophy, and cone dystrophies (P < .003).
58 pigment epithelium (RPE) at any stage of the macular dystrophy, and this epithelium was well preserve
59 he study eye of the patient with Stargardt's macular dystrophy, and vision also seemed to improve in
60  clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern dystrophy.
61 ch as cystic fibrosis, hyperinsulinemia, and macular dystrophy, are traced to defects in ABC transpor
62 lar to CLN7, may be associated with isolated macular dystrophy as well as neuronal ceroid lipofuscino
63 nts with ABCA4 mutations or other retinal or macular dystrophies associated with lipofuscin accumulat
64        Patients affected by Best vitelliform macular dystrophy at different stages of the disease wer
65 ne cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopath
66 dystrophy (BVMD) and adult-onset vitelliform macular dystrophy (AVMD).
67               The VMD2 gene, mutated in Best macular dystrophy (BMD) encodes bestrophin, a 68-kDa bas
68                                         Best macular dystrophy (BMD), also known as vitelliform macul
69 inical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new la
70  in hBest1 cause the autosomal-dominant Best macular dystrophy (BMD).
71 resent specific features distinct from other macular dystrophies, but closer to those reported in fun
72 lar degeneration, including Best vitelliform macular dystrophy (BVMD) and adult-onset vitelliform mac
73  late-stage complication in Best vitelliform macular dystrophy (BVMD) and can be difficult to diagnos
74 laris (CC) in patients with Best vitelliform macular dystrophy (BVMD) by means of optical coherence t
75   It has been proposed that Best vitelliform macular dystrophy (BVMD) is caused by dysfunction in the
76 n of vascular impairment in Best vitelliform macular dystrophy (BVMD) is essential for the developmen
77 y of vitelliform lesions in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical c
78 bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular
79  Here, we characterized six Best vitelliform macular dystrophy (BVMD)-associated BEST1 dominant mutat
80  outer retinal structure in Best vitelliform macular dystrophy (BVMD).
81 is readily distinguished from other juvenile macular dystrophies by the universally thin and sparse s
82 argardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the AB
83 report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations.
84                            Best disease is a macular dystrophy caused by mutations in the BEST1 gene.
85 argardt type 3 (STGD3) disease is a juvenile macular dystrophy caused by mutations in the ELOVL4 (Elo
86 gmentation to treat Best disease, a dominant macular dystrophy caused by over 200 missense mutations
87 targardt disease is a phenotypically diverse macular dystrophy caused by the autosomal recessive inhe
88  Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularizat
89 degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more sever
90                             Dominant cystoid macular dystrophy could be classified into 3 stages, bas
91 Genetic screening of patients diagnosed with macular dystrophy disclosed a novel mutation in the GUCA
92 he extracellular matrix, implicating a novel macular dystrophy disease.
93 JMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
94 milies found no pathogenic variants in known macular dystrophy genes.
95 ted with the major causes of childhood onset macular dystrophies have now been identified and current
96 eases in humans: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectro
97 in patients with hypotrichosis with juvenile macular dystrophy (HJMD) and enabled the authors to esta
98       Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting i
99                  Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disor
100 herin, result in hypotrichosis with juvenile macular dystrophy (HJMD), an autosomal recessive disorde
101                                              Macular dystrophy in SLS may initially comprise an arres
102                                ELOVL4 causes macular dystrophy in this large family distributed throu
103 dentifies CTNNA1 gene variants as a cause of macular dystrophy, indicates that CTNNA1 is involved in
104                             Best vitelliform macular dystrophy is a dominantly inherited, early onset
105                             Dominant cystoid macular dystrophy is a progressive retinal dystrophy, ch
106                             Best vitelliform macular dystrophy is an inherited autosomal dominant, ju
107                 Subclinical Best vitelliform macular dystrophy is characterized by the absence of bio
108 ween a homozygous variant in this gene and a macular dystrophy is described here.
109 Stargardt disease, the most common inherited macular dystrophy, is characterized by vision loss due t
110 or bestrophin, whose gene is mutated in Best macular dystrophy, is described in this review.
111                                              Macular dystrophy leads to progressive loss of central v
112  fibulin mutant, R345W fibulin-3, causes the macular dystrophy malattia leventinese by increased endo
113 P1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb r
114 r age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese (ML).
115 ion (AMD), myopia, pachychoroid disease, and macular dystrophy, manifesting SHRM on optical coherence
116 ily excluded linkage with the North Carolina macular dystrophy (MCDR1) locus.
117 lated macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision lo
118 lated macular degeneration (AMD) and related macular dystrophies (MDs) primarily affect the retinal p
119 lated macular degeneration (AMD) and related macular dystrophies (MDs), yet in vitro models of RPE-CC
120 ining consecutive stages of Best vitelliform macular dystrophy (namely vitelliform, pseudohypopyon, v
121                               North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant di
122            Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a fail
123              The phenotype of North Carolina macular dystrophy (NCMD) is highly variable and remains
124                    There was one family with macular dystrophy, nine with cone-rod dystrophy (CORD),
125 eatures of both diseases are sparse hair and macular dystrophy of the retina, while only EEM syndrome
126  L567F) found in patients having adult-onset macular dystrophies or in BVMD patients having normal el
127 sented cone-rod dystrophy and some exhibited macular dystrophy or retinitis pigmentosa, while all pre
128        We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt dis
129 rely reduced in hiPSC-RPE cells derived from macular dystrophy patients with pathologic BEST1 mutatio
130 mutation in the ELOVL4 gene segregating with macular dystrophy phenotypes confirms the role of this g
131 been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, i
132 OVL4 gene variation in adSTGD-like and other macular dystrophy phenotypes segregating in a large unre
133  in ELOVL4 to date, which is associated with macular dystrophy phenotypes.
134  by the subclinical form of Best vitelliform macular dystrophy (positive testing for BEST1 gene mutat
135            Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from sing
136                               Stargardt-like macular dystrophy (STGD3) is a dominantly inherited juve
137                               Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal domi
138 n which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 6
139 s to understand symptoms of Best vitelliform macular dystrophy such as reduced electro-oculogram, lip
140 by's fundus dystrophy, an autosomal-dominant macular dystrophy that phenotypically resembles AMD.
141 P/rds have been linked to different forms of macular dystrophy; the most common one is substitution o
142 ase, and its phenotype spans from late-onset macular dystrophy to extensive cone-rod degeneration.
143 tein, which is involved in human Stargardt's macular dystrophy type 3 (STGD3).
144 t hBest1 mutations produce variable forms of macular dystrophy via dysfunction of hBest1 Cl(-) channe
145                                  Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an e
146 rminus of 8q, including atypical vitelliform macular dystrophy (VMD1) and epidermolysis bullosa simpl
147                             Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystro
148 r dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal d
149                                       Occult macular dystrophy was diagnosed based on genetic and mul
150          In some families, pericentral RP or macular dystrophy were found in family members while wid
151 nal pigment epithelium (RPE) and causes Best macular dystrophy when mutated.
152 f ABCR function is responsible for Stargardt macular dystrophy, which is associated with accumulation
153 1, ABCA4 variants primarily contributed to a macular dystrophy, while the IMPG1 variant had no obviou
154 he role of this gene in a subset of dominant macular dystrophies with a wide range of clinical expres
155 ulation and can result in autosomal dominant macular dystrophies with incomplete penetrance and mild
156  protein, were identified in 2 families with macular dystrophy with a normal or subnormal ERG, but re
157 severe and a mild variant cause nonsyndromic macular dystrophy with central cone involvement, and 2 s
158 fects in 2 families with autosomal recessive macular dystrophy with central cone involvement.
159 el cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement.
160 odal imaging helps the diagnosis of Juvenile Macular Dystrophy with Hypotrichosis (HJMD).
161 + 3.75 diopters [D]) and 4 individuals had a macular dystrophy with mildly reduced visual acuity (med
162 s in SAMD7 as a cause of autosomal-recessive macular dystrophy with or without cone dysfunction.
163 nusual, previously unreported, findings of a macular dystrophy with relative sparing of the retinal p
164   The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottl

 
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