Multifocal ERG findings in carriers of X-linked retinoschisis

Documenta Ophthalmologica

Volumn 114, Issue 1, 2007, Pages 21-26

  Kim, Linda S ^a   Seiple, William ^b,c   Fishman, Gerald A ^a   Szlyk, Janet P ^a,c  

^a UNIVERSITY OF ILLINOIS   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JESSE BROWN VA MEDICAL CENTER   (United States)

Author keywords

Carriers; Multifocal electroretinography; Situs inversus; X linked retinoschisis

Indexed keywords

ADULT; AGED; ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MALE; MULTIFOCAL ELECTRORETINOGRAM; RETINA BLOOD VESSEL; RETINOSCHISIS; SITUS INVERSUS; VISUAL ACUITY;

ADULT; AGED; ELECTRORETINOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; RETINA; RETINOSCHISIS;

EID: 33846829782     PISSN: 00124486     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10633-006-9034-9     Document Type: Article

References (20)

1. Haas J (1898) Ueber das zusammenvorkommen von veränderungen der retina and chorioidea. Arch Augenheikd 37:343-348
2. Mann I, MacRae A (1938) Congenital vascular veils in the vitreous. Br J Ophthalmol 22:1-10
3. Deutman AF (1971) Sex-linked juvenile retinoschisis. In: Deutman AF (ed) The hereditary dystrophies of the posterior pole of the eye. Van Gorcum, Assen, The Netherlands pp 48-98
4. George NDL, Yates JRW, Moore AT (1995) X-linked retinoschisis. Br J Ophthalmol 79:697-702
5. Roesch MT, Ewing CC, Gibson AE et al (1998) The natural history of X-linked retinoschisis. Can J Ophthalmol 33:149-158
6. Peachey NS, Fishman GA, Derlacki DJ et al (1987) Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 105:513-516
7. Krill AE (1969) X-chromosomal-linked diseases affecting the eye: Status of the heterozygote female. Trans Am Ophth Soc 67:535-608
8. Jay B (1985) X-linked retinal disorders and the Lyon hypothesis. Trans ophthalmol Soc UK 104:836-844
9. Lyon MF (1962) Sex chromatin and gene action in the mammalian X chromosome. Am J Hum Genet 14:135-148
10. Rodriguez FJ, Rodriguez A, Mendozo-Londono R et al (2005) X-linked retinoschisis in three females from the same family: A phenotype-genotype correlation. Retina 25:69-74
11. Ali A, Feroze AH, Rizvi ZH et al (2003) Consanguineous marriage resulting in homozygous occurrence of X-linked retinoschisis in girls. Am J Ophthalmol 136:767-769
12. Wu G, Cotlier E, Brodie S (1985) A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet 5:13-17
13. Arden GB, Gorin MB, Polkinghorne PJ et al (1988) Detection of the carrier state of X-linked retinoschisis. Am J Ophthalmol 105:590-595
14. Sauer CG, Gehrig A, Warneke-Wittstock R et al (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17:164-170
15. Wang T, Zhou A, Waters CT et al (2006) Molecular pathology of X-linked retinoschisis: Mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol 90:81-86
16. Sutter EE, Tran D (1992) The field topography of the ERG components in man - I. The photopic luminance response. Vis Res 32:433-466
17. Hood DC, Li J (1997) A technique for measuring individual multifocal ERG records. In: Yager D (ed) Noninvasive assessment of the visual system. Trends in optics and photonics series; II. Optical Society of America, Washington, DC pp 33-41
18. Apushkin MA, Fishman GA, Rajagopalan AS (2005) Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina 25:612-618
19. Piao C, Kondo M, Nakamura M et al (2003) Multifocal electroretinograms in X-linked retinoschisis. Invest Ophthalmol Vis Sci 44:4920-4930
20. Vajaranant TS, Seiple W, Szlyk JP et al (2002) Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa. Ophthalmology 109:560-568