Frequency of photographically apparent optic disc and parapapillary nerve fiber layer drusen in Usher syndrome

Retina

Volumn 16, Issue 5, 1996, Pages 388-392

  Edwards, Al ^a   Grover, Sandeep ^a   Fishman, Gerald A ^a  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

nerve fiber layer drusen; optic disc drusen; retinitis pigmentosa; Usher syndrome

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; DRUSEN; HUMAN; NERVE FIBER; OPTIC DISK ANOMALY; RETINITIS PIGMENTOSA; RETINOPATHY; RETROSPECTIVE STUDY; USHER SYNDROME;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DEAFNESS; FEMALE; FUNDUS OCULI; HUMANS; MALE; MIDDLE AGED; NERVE FIBERS; OPTIC DISK DRUSEN; OPTIC NERVE DISEASES; PHOTOGRAPHY; PREVALENCE; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDIES; SYNDROME;

EID: 0029910132     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-199616050-00004     Document Type: Article

References (34)

1. Usher CH. On the inheritance of retinitis pigmentosa with notes of cases. R Lond Ophthalmol Hosp Rep 1914; 19:130-236.
2. Sankila EM, Pakarinen L, Kaariainen H, et al. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995; 4:93-98.
3. Fishman GA, Kumar A, Joseph ME, et al. Usher syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol 1983; 101:1367-1374.
4. Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992; 14:979-987.
5. Larget-Piet D, Gerber S, Bonneau D, et al. Genetic heterogeneity of Usher syndrome type 1 in French families. Genomics 1994; 21:138-143.
6. Kimberling WJ, Moller CG, Davenport S, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 1992; 14:988-994.
7. Smith RJ, Lee EC, Kimberling WJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 1992; 14:995-1002.
8. Bonne-Tamir B, Korostishevsky M, Kalinsky H, et al. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred. Genomics 1994; 20:36-42.
9. Keats BJ, Nouri N, Pelias MZ, et al. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 1994; 54:681-686.
10. Smith RJ, Pelias MZ, Daiger SP, et al. Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet 1992; 43:964-969.
11. Kimberling WJ, Weston MD, Moller C, et al. Localization of Usher syndrome type II to chromosome 1q. Genomics 1990; 7:245-249.
12. Lewis RA, Otterud B, Stauffer D, et al. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 1990; 7:250-256.
13. Pieke Dahl S, Kimberling WJ, Gorin MB, et al. Genetic heterogeneity of Usher syndrome type II. J Med Genet 1993; 30:843-848.
14. Bement WM, Hasson T, Wirth JA, et al. Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. Proc Natl Acad Sci USA 1994; 91:6549-6553.
15. Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374:60-61.
16. De Bustros S, Miller NR, Finkelstein D, Massof R. Bilateral astrocytic hamartomas of the optic nerve heads in retinitis pigmentosa. Retina 1983; 3:21-23.
17. Awan KJ. Presumed glial retinal hamartomas in Usher syndrome. Can J Ophthalmol 1976; 11:258-260.
18. Shiono T, Noro M, Tamai M. Presumed drusen of optic nerve head in siblings with Usher syndrome. Jpn J Ophthalmol 1991; 35:300-305.
19. Robertson DM. Hamartomas of the optic disc with retinitis pigmentosa. Am J Ophthalmol 1972; 74:526-531.
20. Mosci L. Concrezioni della papilla ottica e degenerazione pigmentaria della retina. Ann Ottal 1956; 82:403-418.
21. Puck A, Tso MOM, Fishman GA. Drusen of the optic nerve associated with retinitis pigmentosa. Arch Ophthalmol 1985; 103:231-234.
22. Pillai S, Limaye SR, Saimovici L. Optic disc hamartoma associated with retinitis pigmentosa. Retina 1983; 3:24-26.
23. Bec P, Mathis A, Adam P, et al. Retinitis pigmentosa associated with astrocytic hamartomas of the optic disc. Ophthalmologica 1984; 189:135-138.
24. Lorentzen SE. Drusen of the optic disc. Acta Ophthalmol Suppl 1966; 90:1-180.
25. Friedman AH, Gartner S, Modi SS. Drusen of the optic disc: a retrospective study in cadaver eyes. Br J Ophthalmol 1975; 59:413-421.
26. Fishman G, Vasquez V, Fishman M, Berger D. Visual loss and foveal lesions in Usher syndrome. Br J Ophthalmol 1979; 63:484-488.
27. Boldt HC, Byrne SF, BiBernardo CL. Echographic evaluation of optic disc drusen. Clin Neurophthalmol 1991; 11:85-91.
28. Miller NR. Optic disc drusen. In: Ryan SJ, Schachat AP, Murphy RP, eds. Retina. Chicago, IL: CV Mosby Co; 1994:1837-1853.
29. Rucker CW. Defects in visual fields produced by hyaline bodies in optic discs. Arch Ophthalmol 1944; 32:56-59.
30. Seitz R, Kersting G. Die Drusen der Sehnervenpapille und des Pigmentepithels. Klin Monatsbl Augenheilkd 1962; 140:75-88.
31. Shields JA, Federman JL, Tomer TL, Annesley WH. Angioid streaks: ophthalmoscopic variations and diagnostic problems. Br J Ophthalmol 1975; 59:257.
32. Krill AE, Klein BA, Archer DB. Precursors of angioid streaks. Am J Ophthalmol 1973; 76:875-879.
33. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992; 6:328-334.
34. Cheney RE, Riley MA, Mooseker MS. Phylogenetic analysis of the myosin superfamily. Cell Motil Cytoskel 1993; 24:215-223.