Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing

Molecular Vision

Volumn 21, Issue , 2015, Pages 487-501

  Wang, Nan Kai ^a,b   Liu, Laura ^a,b   Chen, Ho Min ^a,b   Tsai, Shawn ^c,d   Chang, Tsong Chi ^c   Tsai, Tzu Hsun ^e   Yang, Chung May ^e   Chao, An Ning ^a,b   Chen, Kuan Jen ^a,b   Kao, Ling Yuh ^a,b   Yeung, Ling ^a,b   Yeh, Lung Kun ^a,b   Hwang, Yih Shiou ^a,b   Wu, Wei Chi ^a,b   Lai, Chi Chun ^a,b  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^c MACKAY MEMORIAL HOSPITAL   (Taiwan)

^d CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EXON; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HUMAN; LEUKOKORIA; MALE; MISSENSE MUTATION; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINA MACULOPATHY; RETINOSCHISIS; RS1 GENE; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; TAIWANESE; VISUAL ACUITY; VITREOUS HEMORRHAGE; X LINKED RETINOSCHISIS; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC DISEASES, X-LINKED; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PEDIGREE; PRESCHOOL CHILD; SEQUENCE HOMOLOGY; TAIWAN; X CHROMOSOMAL INHERITANCE; YOUNG ADULT;

EYE PROTEIN; RS1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; EYE PROTEINS; FEMALE; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RETINOSCHISIS; SEQUENCE HOMOLOGY, AMINO ACID; TAIWAN; YOUNG ADULT;

EID: 84928991126     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Haas J. Ueber das Zusammenvorkommen von Veraender­ungen der Retina und Choroidea. Arch Augenheilkd 1898; 39:343-8.
2. Forsius H, Eriksson A, Valnio-Mattilla B. Geschlechtsgebun­dene erbliche Retinoschisis in zwei Familien in Finnland. Klin Monatsbl Augenheilkd 1963; 143:806-816. [PMID: 14115917]
3. Deutman AF. The hereditary dystrophies of the posterior pole of the eye [Ph.D. thesis]: Koninklijke Van Gorcum, Assen; 1971.
4. Hirose T, Wolf E, Hara A. Electrophysiological and Psycho­physical Studies in Congenital Retinoschisis of X–Linked Recessive Inheritance. In: Lawwill T, editor. ERG, VER and Psychophysics. Vol 13: Springer Netherlands; 1977. p. 173–84.
5. Krill AE. Krill’s Hereditary Retinal and Choroidal Diseases. Cambridge, London, New York: Harper & Row, Hagerstown; 1977.
6. Condon GP, Brownstein S, Wang NS, Kearns JA, Ewing CC. Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes. Arch Ophthalmol 1986; 104:576-83. [PMID: 3954665]
7. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psycho­physical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 1987; 105:513-6. [PMID: 3566604]
8. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH. Posi­tional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997; 17:164-70. [PMID: 9326935]
9. Wang NK, Chuang LH, Lai CC, Chou CL, Chu HY, Yeung L, Chen YP, Chen KJ, Wu WC, Chen TL, Chao AN, Hwang YS. Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. Doc Ophthalmol 2012; 125:51-62. [PMID: 22669287]
10. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-field clinical electroreti­nography (2008 update). Doc Ophthalmol 2009; 118:69-77. [PMID: 19030905]
11. Wang NK, Fine HF, Chang S, Chou CL, Cella W, Tosi J, Lin CS, Nagasaki T, Tsang SH. Cellular origin of fundus autoflu­orescence in patients and mice with a defective NR2E3 gene. Br J Ophthalmol 2009; 93:1234-40. [PMID: 19429590]
12. Kim SY, Ko HS, Yu YS, Hwang JM, Lee JJ, Kim SY, Kim JY, Seong MW, Park KH, Park SS. Molecular genetic character­istics of X-linked retinoschisis in Koreans. Mol Vis 2009; 15:833-43. [PMID: 19390641]
13. Molday RS, Kellner U, Weber BH. X-linked juvenile retinos­chisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res 2012; 31:195-212. [PMID: 22245536]
14. Stanga PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE. Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel muta­tion in the XLRS1 gene. Retina 2001; 21:78-80. [PMID: 11217940]
15. Prenner JL, Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Retina 2006; 26:S61-4. [PMID: 16946682]
16. Lesch B, Szabo V, Kanya M, Somfai GM, Vamos R, Varsanyi B, Pamer Z, Knezy K, Salacz G, Janaky M, Ferencz M, Hargitai J, Papp A, Farkas A. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis 2008; 14:2321-32. [PMID: 19093009]
17. Wang T, Waters CT, Rothman AM, Jakins TJ, Romisch K, Trump D. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet 2002; 11:3097-105. [PMID: 12417531]
18. Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 2003; 278:28139-46. [PMID: 12746437]
19. Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Invest Ophthalmol Vis Sci 2009; 50:4342-50. [PMID: 19324861]
20. Hewitt AW, FitzGerald LM, Scotter LW, Mulhall LE, McKay JD, Mackey DA. Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. Clin Experiment Ophthalmol 2005; 33:233-9. [PMID: 15932525]
21. Karpe G. CHAPTER IV.: The electroretinogram under pathological conditions. Acta Ophthalmol (Copenh) 1946; 24:69-113.
22. Heckenlively JR, Arden GB. Principles and Practice of Clinical Electrophysiology of Vision. 2nd ed: Cambridge, Mass.: MIT Press; 2006.
23. Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH, Weber BH. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol 2008; 116:97-109. [PMID: 17987333]
24. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE. A phenotype-genotype correla­tion study of X-linked retinoschisis. Ophthalmology 2013; 120:1454-64. [PMID: 23453514]
25. George ND, Yates JR, Moore AT. X linked retinoschisis. Br J Ophthalmol 1995; 79:697-702. [PMID: 7662639]
26. George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996; 114:274-80. [PMID: 8600886]
27. Thobani A, Fishman GA. The use of carbonic anhydrase inhibitors in the retreatment of cystic macular lesions in reti­nitis pigmentosa and X-linked retinoschisis. Retina 2011; 31:312-5. [PMID: 20966823]
28. Khandhadia S, Trump D, Menon G, Lotery AJ. X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype. Eye (Lond) 2011; 25:922-8. [PMID: 21527955]
29. Genead MA, Fishman GA, Walia S. Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X-linked retinoschisis. Arch Ophthalmol 2010; 128:190-7. [PMID: 20142541]
30. Walia S, Fishman GA, Molday RS, Dyka FM, Kumar NM, Ehlinger MA, Stone EM. Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. Am J Ophthalmol 2009; 147:111-5. [PMID: 18834580]
31. Wolfensberger TJ, Mahieu I, Jarvis-Evans J, Boulton M, Carter ND, Nogradi A, Hollande E, Bird AC. Membrane-bound carbonic anhydrase in human retinal pigment epithe­lium. Invest Ophthalmol Vis Sci 1994; 35:3401-7. [PMID: 8056514]
32. Wolfensberger TJ. The role of carbonic anhydrase inhibitors in the management of macular edema. Doc Ophthalmol 1999; 97:387-97. [PMID: 10896355]