Autosomal recessive familial exudative vitreoretinopathy: Evidence for genetic heterogeneity

Clinical Genetics

Volumn 54, Issue 4, 1998, Pages 315-320

  De Crecchio, Giuseppe ^a   Simonelli, Francesca ^a   Nunziata, Giuseppe ^a   Mazzeo, Salvatore ^a   Greco, Giovanni Maria ^a   Rinaldi, Ernesto ^a   Ventruto, Valerio ^b   Ciccodicola, Alfredo ^b   Miano, Maria Giuseppina ^b   Testa, Francesco ^b   Curci, Anna ^b   D'Urso, Michele ^b   Rinaldi, Maria Michela ^c   Cavaliere, Maria Luigia ^c   Castelluccio, Pia ^c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^c CARDARELLI HOSPITAL   (Italy)

Author keywords

Autosomal recessive inheritance; Exudative vitreoretinopathy; Retinal detachment; Retinal vessels

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE COURSE; FEMALE; GENETIC HETEROGENEITY; HUMAN; MALE; ONSET AGE; PRIORITY JOURNAL; VITREORETINOPATHY;

ADULT; CHILD; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HUMANS; NUCLEAR FAMILY; PEDIGREE; VITREORETINOPATHY, PROLIFERATIVE;

EID: 14444268540     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1998.5440409.x     Document Type: Article

References (21)

1. Shastry BS, Hartzer MK, Trese MT. Familial exudative vitreoretinopathy: multiple modes of inheritance. Clin Genet 1993: 44: 275-276.
2. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthal 1969: 68: 578-594.
3. Van Nouhuys CE. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina. Doc Ophthalmol 1982: 54: 411-414.
4. Van Nouhuys CE. Dominant exudative vitreoretinopathy. Ophthalmol Pediatr Genet 1985: 5: 31-38.
5. Feldman EL, Norris EL, Cleasby GW. Autosomal dominant exudative vitreoretinopathy. Arch Ophthalmol 1983: 101: 1532-1535.
6. Li Y, Muller B, Fuhrmann C, van Nouhuys CE, Laqua H, Humphries P, Schwinger E, Gal A. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992: 51: 749-754.
7. Price SM, Periam N, Humphries A, Woodruff G, Trembath RC. Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthal Genet 1996: 17: 52-57.
8. Plager DD, Forest DE, Hartzer M, Trese MT, Shastry S. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol 1992: 114: 145-148.
9. Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatritrick MW. X-linked exudative vitreoretinopathy: clinical feature and genetic linkage analysis. Br J Ophthalmol 1993: 77: 168-170.
10. Clement F, Beckford CA, Corral A, Jimenez R. X-linked familial exudative vitreoretinopathy. Report of one family. Retina 1995: 15: 141-145.
11. Shastry BS, Hejtmancik JF, Trese MT. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat 1997: 9: 396-401.
12. Ober RR, Bird AC, Hamilton AM, Sehmi K. Autosomal dominant exudative vitreoretinopathy. Br J Ophthal 1980: 64: 112-120.
13. Cook GR, Knobloch WH. Autosomal recessive exudative vitreoretinopathy and encephaloceles. Am J Ophthalmol 1982: 94: 18-25.
14. Van Nouhuys CE. Signs, complications and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 1991: 111: 34-41.
15. Khairallah M, Belaiba A, Aloulou K, Chachia N. Vitréorétínopathie exsudative familiale et tortuosité vasculaires rétiennes héréditaires. J Fr Ophthalmol 1995: 18: 231-237.
16. Gitter KA, Rothschild H, Waltman DD, Scott B, Azar P. Dominantly inherited peripheral retinal neovascularization. Arch Ophthalmol 1978: 96: 1601-1605.
17. Miyakubo H, Inohara N, Hashimoto K. Retinal involvement in familial exudative vitreoretinopathy. Ophthalmol Basel 1982: 185: 125-135.
18. Nicholson DH. Criswick - Schepens syndrome (familial exudative vitreoretinopathy). Arch Ophtalmol 1984: 102: 1519-1522.
19. Saraux H. Rétinopathie exudative à transmission dominante. J Fr Ophtalmol 1985: 8 (2): 155-158.
20. Godel V. Primary retinal dysplasia transmitted as X-chromosome linked recessive disorder. Am J Ophthalmol 1978: 86 (2): 221-227.
21. Shastry BS, Trese MT. Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet 1997: 69: 217-218 (Letter).