Chen Z-Y, Battinelli EM, Fielder A,
Bundey S, Sims K, Breakefield XO, Craig IW. Identification of a
mutation in the Norrie disease gene (NDP) in affected members of a family with
X-linked familial exudative vitreoretinopathy, Nature Genetics 1993;5:180-182.
Scientific Newsletter : Disease Database
Vitreoretinopathies and Vitreoretinal Degenerations
Evidence for genetic heterogeneity in X-linked familial
Shastry BS, Liu X, Hejtmancik JF, Plager DA, Trese MT.
Eye Research Institute, Oakland University, Rochester, Michigan 48309-4401, USA.
PMID: 9299244 [PubMed – indexed for MEDLINE]
Linkage and candidate gene analysis of X-linked familial
Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT.
|Genomics 1995 May 20;27(2):341-4
Eye Research Institute, Oakland University, Rochester, Michigan 48309, USA.
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder
characterized by avascularity of the peripheral retina, retinal exudates,
tractional detachment, and retinal folds. The disorder is most commonly
transmitted as an autosomal dominant trait, but X-linked transmission also
occurs. To initiate the process of identifying the gene responsible for the
X-linked disorder, linkage analysis has been performed with three previously
unreported three- or four-generation families. Two-point analysis showed linkage
to MAOA (Zmax = 2.1, theta max = 0) and DXS228 (Zmax = 0.5, theta max = 0.11),
and this was further confirmed by multipoint analysis with these same markers (Zmax
= 2.81 at MAOA), which both lie near the gene causing Norrie disease. Molecular
genetic analysis further reveals a missense mutation (R121W) in the third exon
of the Norrie’s disease gene that perfectly cosegregates with the disease
through three generations in one family. This mutation was not detected in the
unaffected family members and six normal unrelated controls, suggesting that it
is likely to be the pathogenic mutation. Additionally, a polymorphic missense
mutation (H127R) was detected in a severely affected patient.
PMID: 7558002 [PubMed – indexed for MEDLINE]
X-linked familial exudative vitreoretinopathy. Report of one
Clement F, Beckford CA, Corral A, Jimenez R.
Department of Ophthalmology, Hospital Universitario Principe de Astrias, Alcala
de Henares, Madrid, Spain.
BACKGROUND: Familial exudative vitreoretinopathy is an uncommon
heredodegenerative disease with different types of inheritance and degrees of
severity. METHODS: Findings in five affected members of a family in which the
X-linked mode of inheritance of familial exudative vitreoretinopathy is present
are discussed. RESULTS: Patients presented with characteristic retinal exudative
tractional detachment, temporal retinal vessel traction, capillary dilatation,
neovascularization, and vitreous veils. CONCLUSION: A review of the 21 cases of
X-linked familial exudative vitreoretinopathy reported to date indicates a worse
outcome in this mode of inheritance than in cases of autosomal dominant
PMID: 7624602 [PubMed – indexed for MEDLINE]
A mutation in the Norrie disease gene (NDP) associated with
X-linked familial exudative vitreoretinopathy.
Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW.
|Nat Genet 1993 Oct;5(2):180-3
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown
Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder
characterized by an abnormality of the peripheral retina. Both autosomal
dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the
biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of
the Norrie gene locus (NDP) in a four generation FEVR family (shown previously
to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3))
reveals a missense mutation in the highly conserved region of the NDP gene,
which caused a neutral amino acid substitution (Leu124Phe), was detected in all
of the affected males, but not in the unaffected family members, nor in normal
controls. The observations suggest that phenotypes of both XLFEVR and Norrie
disease can result from mutations in the same gene.
PMID: 8252044 [PubMed – indexed for MEDLINE]
Mapping studies of an X-linked familial exudative
Shastry BS, Trese MT.
Eye Research Institute, Oakland University, Rochester, MI 48309.
Familial exudative vitreoretinopathy (FEVR) is a congenital hereditary,
bilateral eye disorder which affects both retina and the vitreous body. As a
first step toward the identification of the gene responsible for the X-linked
disorder, we report here the results of DNA analyses from the patients and their
parents of two families having members affected with FEVR. The results indicate
that loci MIC2 and choroideremia are unlikely to be associated with the disease.
Similar results are obtained with anonymous probes DXS7 and DXYS1 and
microsatellite markers DXS426, DXS453 and DXS454. No signs of microdeletion,
substitution and rearrangements in these loci could be detected. These data
suggest that the above loci are probably not involved in determining the FEVR
PMID: 8099790 [PubMed – indexed for MEDLINE]
X linked exudative vitreoretinopathy: clinical features and
genetic linkage analysis.
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW.
|Br J Ophthalmol 1993 Mar;77(3):168-70
Department of Clinical Genetics, University of Birmingham, Birmingham Maternity
A four generation family in which familial exudative vitreoretinopathy is
inherited as an X linked condition is described. Essentially the condition is
one of abnormal vascularisation and signs at birth are those of a retinopathy
superficially resembling retinopathy of prematurity, retinal folds, or, in
advanced cases, enophthalmos or even phthisis. Prognosis depends on the
progression of the retinal changes. The family members, including seven affected
males and five obligate carrier females, have been types for 20 DNA markers, and
linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the
latter region includes the locus for the gene for Norrie disease, it is possible
that this and X linked vitreoretinopathy are allelic. We can further speculate
that the differences in severity of the clinical manifestations are dependent
only upon the timing of the insult.
PMID: 8457509 [PubMed – indexed for MEDLINE]
X-linked familial exudative vitreoretinopathy (FEVR): results
of DNA analysis with candidate genes.
Shastry BS, Trese MT.
|Am J Med Genet 1993 Jan 1;45(1):111-3
PMID: 8418643 [PubMed – indexed for MEDLINE]
X-linked recessive familial exudative vitreoretinopathy.
Plager DA, Orgel IK, Ellis FD, Hartzer M, Trese MT, Shastry BS.
|Am J Ophthalmol 1992 Aug 15;114(2):145-8
Department of Ophthalmology, Indiana University School of Medicine,
Familial exudative vitreoretinopathy is an inherited disorder characterized by
retinal traction, peripheral vitreous opacities, and subretinal and intraretinal
exudates. We observed a family in which four boys (the children of three
sisters) were affected with this disorder and an X-linked recessive inheritance
was apparent. The differential diagnosis includes retinopathy of prematurity,
primary hyperplastic primary vitreous, Coats’ disease, peripheral uveitis,
retinoblastoma, and Norrie’s disease, but this differentiation can usually be
made on the basis of clinical findings alone. Knowledge of X-linked recessive
transmission is important for correct diagnosis and for genetic counseling.
PMID: 1642288 [PubMed – indexed for MEDLINE]