X-linked retinoschisis in three females from the same family: A phenotype-genotype correlation

Retina

Volumn 25, Issue 1, 2005, Pages 69-74

  Rodríguez, Francisco J ^a,c   Rodríguez, Alvaro ^a   Mendoza Londoño, Roberto ^b   Tamayo, Martha L ^a,b  

^a UNIVERSIDAD DEL ROSARIO   (Colombia)

^b PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^c NONE   (Colombia)

Author keywords

Bilateral; Females; Fovea; Gene; Linkage analysis; Long term follow up; Periphery; Retinoschisis; X linked

Indexed keywords

ADOLESCENT; ADULT; CHILD; CLINICAL ARTICLE; DENDRITIC CELL; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INTRAOCULAR PRESSURE; MALE; MULTIGENE FAMILY; RETINA MACULA DEGENERATION; RETINOSCHISIS; RETROSPECTIVE STUDY; REVIEW; SCLERA BUCKLING PROCEDURE; VISUAL ACUITY; X CHROMOSOME LINKAGE; X LINKED RETINOSCHISIS;

EID: 13844264180     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200501000-00010     Document Type: Review

References (22)

1. Hass J. Ueber das Zusammenvorkommem von Veranderunger der Retina und Choroidea. Arch Augenheilkd 1898;37:343-348.
2. Madjarov B, Hilton GF, Brinton DA, Lec SS. A new classification of the retinoschisis. Retina 1995;15:282-285.
3. Deutman AF. Sex-linked juvenile retinoschisis. In: Deutman AF, ed. The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen: Van Gorcum & Co, 1971:48-99.
4. Forsius H, Krause U, Helve J, et al. Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol 1973;8:385-393.
5. Arden GB, Gonin MB, Polkinhorne PJ, et al. Detection of the carrier state of X-linked retinoschisis. Am J Ophthalmol 1988;105:590-595.
6. Peachey NS, Fishman GA, Derlack IDJ, Brigell MG. Psychophysical and electroretinographic finding in X-linked juvenile retinoschisis. Arch Ophthalmol 1987;105:513-516.
7. Sabates F. Juvenile retinoschisis. Am J Ophthalmol 1966;62:683-688.
8. Gieser EP, Falls HF. Hereditary retinoschisis. Am J Ophthalmol 1961;51:1193-1200.
9. Forsius H, Vainio-Mattila B, Eriksson A. X-linked retinoschisis. Br J Ophthalmol 1962;46:678-681.
10. Hommura S, Nakano H. A family of foveal retinoschisis including a female with Turner syndrome. Jpn J Clin Ophthalmol 1982;36:291.
11. Wu G, Cotlier E, Brodie S. A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet 1985;5:13-17.
12. Yamaguchi K, Hara S. Autosomal juvenile retinoschisis without foveal retinoschisis. Br J Ophthalmol 1989;73:470-473.
13. Shastry B, Hejtmancik JF, Rodríguez A, Rodriguez F, Tamayo ML. Linkage mapping of a large Colombian family segregating for X-linked retinoschisis: refinement of the chromosomal location. J Med Genet 1997;34:504-506.
14. Mendoza-Londoño R, Hiriyanna KT, Bingham EL, et al. A Colombian family with X-linked juvenile retinoschisis with three affected females. Finding of a frameshift mutation. Ophthalmic Genet 1999;20:37-43.
15. Kaplan J, Pelet A, Hentati H, et al. Contribution to carrier detection and genetic counseling in X-linked retinoschisis. J Med Genet 1991;28:383-388.
16. Dumur V, Trivier E, Puech B, et al. Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region. Hum Genet 1995;96:79-82.
17. George NDL, Payne SJ, Bill RM, Barton DE, Moore AT, Yates JRW. Improved genetic mapping of X-linked retinoschisis. J Med Genet 1996;33:919-922.
18. Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997;17:164-170.
19. Lewis RA, Lee GB, Martonyi GL, Bamett JM, Falls HF. Familial foveal retinoschisis. Arch Ophthalmol 1977;5:1190-1196.
20. Noble KG, Carr RE, Siegel IM. Familial foveal retinoschisis associated with a rod-cone dystrophy. Am J Ophthalmol 1978;85:551-557.
21. Hahn DP, Sieving PA, Johnson MW, Martonyi GL. Foveal retinoschisis associated with senile retinoschisis in a woman. Am J Ophthalmol 1988;106:107-109.
22. Puliafito CA, Hee MR, Schuman JS, Fujimoto JG. Optical Coherence Tomography of Ocular Diseases. Thorofare: Slack Inc, 1996:269-275.