1 identified 11 different mutations in 15/
110 FEVR probands.
2 raphic findings consistent with stage 1 or
2 FEVR and 21% demonstrated clinical or angiographic findi
3 age 3, 4, or 5 FEVR and 24% had stage 1 or
2 FEVR.
4 patients, 76% had clinical stage 3, 4, or
5 FEVR and 24% had stage 1 or 2 FEVR.
5 ic findings consistent with stage 3, 4, or
5 FEVR.
6 seven mutations identified in a cohort of
70 FEVR patients in whom we had already excluded the known
7 However, half of
all FEVR-affected case subjects do not harbor mutations in t
8 er characterized the variations in NDP
among FEVR patients from India.
9 and is statistically significant for ROP
and FEVR (P = 4.6E-04 and P = 2.4E-03, respectively) compare
10 1 because the phenotypic distinction
between FEVR and MLCRD/CDMMR portends management implications in
11 In severe
cases FEVR may lead to retinal detachment and visual impairmen
12 nes (LRP5, FZD4, and NDP) are known to
cause FEVR, these account for only a fraction of FEVR cases.
13 Autosomal
dominant FEVR is genetically heterogeneous, but its principal loc
14 omal recessive as well as autosomal
dominant FEVR.
15 both of these genes cause autosomal
dominant FEVR.
16 ons in TSPAN12 also cause autosomal-
dominant FEVR.
17 and c.2128C>T [p.Arg710Cys]) in two
dominant FEVR-affected families and a de novo mutation (c.1434_14
18 hich was also present in an additional
Dutch FEVR family that subsequently appeared to share a common
19 In a large
Dutch FEVR family, we performed linkage analysis, exome sequen
20 Twenty-
eight FEVR probands with diagnoses made by the referring physi
21 r validates the involvement of these gene
in FEVR development.
22 The majority of mutations identified
in FEVR are found within four genes that encode the recepto
23 factor (ZNF408) has also been implicated
in FEVR.
24 gnaling may help treat ocular pathologies
in FEVR and potentially other defective Wnt signaling-relat
25 the referring physician and without a
known FEVR gene mutation, and 3 with microcephaly and choriore
26 ts in whom we had already excluded the
known FEVR genes.
27 Genetic studies
linked FEVR with mutations in Wnt signaling ligand or receptors
28 nal vasculature and also indicates that
more FEVR genes remain to be identified.
29 D4 mutations are responsible for only 20%
of FEVR index cases and suggests that the other FEVR loci m
30 Cases
of FEVR should be carefully inspected for the presence of m
31 he gene encoding beta-catenin, as a cause
of FEVR.
32 as conducted of patients with a diagnosis
of FEVR between January 2011 and January 2013 at a single t
33 s were excluded if a definitive diagnosis
of FEVR could not be made.
34 Patients were excluded if a diagnosis
of FEVR could not be made.
35 sion criteria included clinical diagnosis
of FEVR in patients referred to our clinic for evaluation o
36 ria included confirmed clinical diagnosis
of FEVR in patients referred to our clinic for evaluation o
37 We present new anatomic features
of FEVR with functional and genetic correlations.
38 One form
of FEVR is caused by defects in Frizzled-4 (Fz4), a presump
39 e FEVR, these account for only a fraction
of FEVR cases.
40 cohort reported a positive family history
of FEVR in a first-degree relative.
41 ents frequently have early manifestations
of FEVR (stage 1 or 2).
42 el to explore the clinical manifestations
of FEVR.
43 Asymptomatic family members
of FEVR patients frequently have early manifestations of FE
44 n a Lrp5 knockout (Lrp5(-/-)) mouse model
of FEVR and explored whether treatment with a pharmacologic
45 Forty-three percent
of FEVR patients had detectable mutations in FZD4, NDP, or
46 complete characterization of early stages
of FEVR.
47 Coats' disease (57%), toxocariasis (8%),
or FEVR (6%).
48 ndings have led to an update of the
original FEVR classification scheme and more complete characteriz
49 FEVR index cases and suggests that the
other FEVR loci may account for more cases than previously ant
50 Autosomal
recessive FEVR was diagnosed in multiple individuals from three co
51 Early-
stage FEVR may progress to more advanced stages, which can res
52 tations is useful in patients with
suspected FEVR and ROP.
53 diate relatives of patients with
symptomatic FEVR.
54 ted CTNNB1 mutations can cause non-
syndromic FEVR and that FEVR can be a part of the syndromic ID phe
55 ations can cause non-syndromic FEVR and
that FEVR can be a part of the syndromic ID phenotype, furthe
56 2 (5.4 %) and ZNF408 (2.7 %) genes among
the FEVR patients, indicating their potential role in the di
57 The proteins encoded by
these FEVR genes form part of a signaling complex that activat
58 The DNA of 110
unrelated FEVR patients and 115 unaffected controls were screened
59 res of familial exudative
vitreoretinopathy (
FEVR) have not been well described.
60 minant familial exudative
vitreoretinopathy (
FEVR) in families linking to the EVR1 locus on the long
61 res of familial exudative
vitreoretinopathy (
FEVR) in human patients.
62 Familial exudative
vitreoretinopathy (
FEVR) is a genetically heterogeneous disorder characteri
63 Familial exudative
vitreoretinopathy (
FEVR) is a hereditary eye disorder that affects both the
64 Familial exudative
vitreoretinopathy (
FEVR) is an inherited blinding disorder characterized by
65 Familial exudative
vitreoretinopathy (
FEVR) is an inherited blinding disorder of the retinal v
66 Familial exudative
vitreoretinopathy (
FEVR) is an inherited blinding disorder of the retinal v
67 Familial exudative
vitreoretinopathy (
FEVR) is characterized by delayed retinal vascular devel
68 d with familial exudative
vitreoretinopathy (
FEVR), can result from mutations in KIF11, a gene recent
69 sis of familial exudative
vitreoretinopathy (
FEVR), Norrie disease, Coats' disease, bilateral persist
70 ory of familial exudative
vitreoretinopathy (
FEVR), were also excluded.
71 se and familial exudative
vitreoretinopathy (
FEVR).
72 sis of familial exudative
vitreoretinopathy (
FEVR, MIM # 133780).
73 ; 4%), familial exudative
vitreoretinopathy (
FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n
74 d angiographic findings were associated
with FEVR on wide-field angiography.
75 culogenesis in humans and is associated
with FEVR.
76 lous microstructural findings; all eyes
with FEVR severity of stage 2 or greater had abnormalities.
77 of ZNF408 in 132 additional individuals
with FEVR revealed another potentially pathogenic missense va
78 this gene can lead to clinical overlap
with FEVR.
79 ration demonstrating phenotypic overlap
with FEVR.
80 o screen FZD4 in a panel of 40 patients
with FEVR to identify the types and location of mutations and
81 l anomalies in the majority of patients
with FEVR.
82 ne in a cohort of 40 unrelated patients
with FEVR.
83 ed mutation were identified in probands
with FEVR: p.A218Gfs*15, p.E470X, p.R221G, c.790-1G>T, and th