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
|Genomics 1997 Sep 1;44(2):247-8||Related Articles, Links|
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy.
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]
|Genomics 1995 May 20;27(2):341-4||Links|
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.
Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT.
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]
|Retina 1995;15(2):141-5||Related Articles, Links|
X-linked familial exudative vitreoretinopathy. Report of one family.
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 inheritance.
PMID: 7624602 [PubMed – indexed for MEDLINE]
|Nat Genet 1993 Oct;5(2):180-3||Links|
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.
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.
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]
|Biochem Biophys Res Commun 1993 Jun 15;193(2):599-603||Related Articles, Links|
Mapping studies of an X-linked familial exudative vitreoretinopathy.
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 pathology.
PMID: 8099790 [PubMed – indexed for MEDLINE]
|Br J Ophthalmol 1993 Mar;77(3):168-70||Links|
X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW.
Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital.
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]
|Am J Med Genet 1993 Jan 1;45(1):111-3||Links|
X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes.
Shastry BS, Trese MT.
PMID: 8418643 [PubMed – indexed for MEDLINE]
|Am J Ophthalmol 1992 Aug 15;114(2):145-8||Links|
X-linked recessive familial exudative vitreoretinopathy.
Plager DA, Orgel IK, Ellis FD, Hartzer M, Trese MT, Shastry BS.
Department of Ophthalmology, Indiana University School of Medicine, Indianapolis.
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]