ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

Documenta Ophthalmologica

Volumn 116, Issue 2, 2008, Pages 97-109

  Renner, Agnes B ^a   Kellner, Ulrich ^a,b,c   Fiebig, Britta ^d   Cropp, Elke ^a   Foerster, Michael H ^a   Weber, Bernhard H F ^d  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b AugenZentrum Siegburg ^*  (Germany)

^c RetinaScience   (Germany)

^d UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Full field ERG; Fundus autofluorescence; Negative ERG; Optical coherence tomography; RS1 gene; X linked congenital retinoschisis

Indexed keywords

GENE PRODUCT; RETINOSCHISIS 1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; ELECTRORETINOGRAPHY; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HUMAN; INFANT; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PRACTICE GUIDELINE; RETINA CONE; RETINA FOVEA; RETINOSCHISIS; VISUAL ACUITY; VISUAL DISCRIMINATION; VISUAL SYSTEM EXAMINATION; X CHROMOSOME LINKED DISORDER; X LINKED CONGENITAL RETINOSCHISIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FLUORESCENCE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; RETINA; RETINOSCHISIS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 39649095431     PISSN: 00124486     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10633-007-9094-5     Document Type: Article

References (48)

1. Sauer GS, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 17:164-170
2. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 42:816-825
3. Yanoff M, Rahn EK, Zimmermann LE (1968) Histopathology of juvenile retinoschisis. Arch Ophthalmol 79:49-53
4. Manschot WA (1972) Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol 88:131-138
5. Condon GP, Brownstein S, Wang NS, Kearns AF, Ewing CC (1986) Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes. Arch Ophthalmol 104:576-583
6. Deutman AF (1971) Sex-linked juvenile retinoschisis. In: Deutman AF (ed) The hereditary dystrophies of the posterior pole of the eye. Van Gorcum, Assen
7. Kellner U, Brummer S, Foerster MH, Wessing A (1990) X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 228:432-437
8. George ND, Yates JR, Moore A (1996) Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 114:274-280
9. Bradshaw K, George N, Moore A, Trump D (1999) Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Doc Ophthalmol 98:153-173
10. Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, Ehinger B, Sieving PA (2000) Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol 118:1098-1104
11. Nakamura M, Ito S, Terasaki H, Miyake Y (2001) Japanese X-linked juvenile retinoschisis: Conflict of phenotype and genotype with novel mutations in the XLRS1 gene. Arch Ophthalmol 119:1553-1554
12. Pimenides D, George NDL, Yates JRW, Bradshaw K, Roberts SA, Moore AT, Trump D (2005) X-linked retinoschisis: Clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet 42:e35
13. Simonelli F, Cennamo G, Ziviello C, Testa F, Crecchio Gd, Nesti A, Manitto MP, Ciccodicola A, Banfi S, Brancato R, Rinaldi E (2003) Clinical features of X-linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol 87:1130-1134
14. Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS (2006) An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision Res 46:3845-3852
15. Karpe G (1945) The basis of clinical electroretinography. Acta Ophthalmol Suppl 24:1-118
16. Weleber RG, Francis PJ (2006) Differential diagnosis of the electronegative electroretinogram. In: Heckenlively JR, Arden GB (eds) Principles and practice of clinical electrophysiology of vision. The MIT Press, Cambridge
17. Bradshaw K, Allen L, Trump D, Hardcastle AJ, George N, Moore A (2004) A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol 108:135-145
18. Eriksson U, Larsson E, Holmström G (2004) Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. Acta Ophthalmol Scand 82:218-223
19. Eksandh LC, Andréasson S, Abrahamson M (2005) Juvenile X-linked retinoschisis with normal scotopic b -wave in the electroretinogram at an early stage of the disease. Opthalmic Genet 26:111-117
20. Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K (1999) Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b -wave. Am J Ophthalmol 128:179-184
21. Apushkin MA, Fishman GA, Janowicz MJ (2005) Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis. Ophthalmology 112:495-501
22. Chan WM, Choy KW, Wang J, Lam DSC, Yip WWK, Fu W, Pang CP (2004) Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Clin Exp Ophthalmol 32:429-432
23. Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K (2004) Four Japanese male patients with juvenile retinoschisis: Only three have mutations in the RS1 gene. Am J Ophthalmol 138:788-798
24. Koh AH, Hogg CR, Holder GE (2001) The incidence of negative ERG in clinical practice. Doc Ophthalmol 102:19-30
25. Renner AB, Kellner U, Cropp E, Foerster MH (2006) Dysfunction of transmission in the inner retina: Incidence and clinical causes of negative electroretinogram. Graefes Arch Clin Exp Ophthalmol 244:1467-1473
26. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG (1987) Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 105:513-516
27. Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH, Donoso LA (2004) X-linked retinoschisis: A clinical and molecular genetic review. Surv Ophthalmol 49:214-230
28. Renner AB, Tillack H, Kraus H, Kramer F, Mohr N, Weber BH, Foerster MH, Kellner U (2005) Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology 112:586-592
29. Marmor MF, Holder GE, Seeliger MW, Yamamoto S (2004) Standard for clinical electroretinography (2004 update). Doc Ophthalmol 108:107-114
30. Kellner U, Bornfeld N, Foerster MH (1995) Severe course of cutaneous melanoma associated paraneoplastic retinopathy. Br J Ophthalmol 79:746-752
31. Ruether K, Kellner U (1998) Inner retinal function in hereditary retinal dystrophies. Acta Anat (Basel) 162:169-177
32. Consortium TR (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet 7:1185-1192
33. Gehrig A, Janssen A, Horling F, Grimm C, Weber BH (2006) The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse. Cytogenet Genome Res 115:35-44
34. Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA (2007) Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 48:3837-3845
35. Stanga PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE (2001) Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. Retina 21:78-80
36. Alexander KR, Fishman GA, Barnes CS, Grover S (2001) On-response deficit in the electroretinogram of the cone system in X-linked retinoschisis. Invest Ophthalmol Vis Sci 42:453-459
37. Alexander KR, Barnes CS, Fishman GA (2001) High-frequency attenuation of the cone ERG and ON-response deficits in X-linked retinoschisis. Invest Ophthalmol Vis Sci 42:2094-2101
38. Shinoda K, Ohde H, Mashima Y, Inoue R, Ishida S, Inoue M, Kawashima S, Oguchi Y (2001) On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. Am J Ophthalmol 131:489-494
39. Khan NW, Jamison JA, Kemp JA, Sieving PA (2001) Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res 41:3931-3942
40. Weber BH, Schrewe H, Molday LL, Gehrig A, White KL, Seeliger MW, Jaissie GB, Friedburg C, Tamm E, Molday RS (2002) Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci USA 99:6222-6227
41. Azzolini C, Pierro L, Codenotti M, Brancato R (1997) OCT images and surgery of juvenile macular retinoschisis. Eur J Ophthalmol 7:196-200
42. Muscat S, Fahad B, Parks S, Keating D (2001) Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. Eye 15:796-799
43. Prenner JL, Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT (2006) Congenital X-linked retinoschisis classification system. Retina 26:61-64
44. Delori FC, Dorey CK, Staurenghi G, Arend O, Goger DG, Weiter JJ (1995) In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. Invest Ophthalmol Vis Sci 36:718-729
45. von Ruckmann A, Fitzke FW, Bird AC (1997) In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol 115:609-615
46. Kellner U (2006) Fundus autofluorescence. In: Heimann H, Kellner U, Foerster MH (eds) Atlas of fundus angiography. Thieme, Stuttgart
47. Wabbels B, Demmler A, Paunescu K, Wegscheider E, Preising MN, Lorenz B (2006) Fundus autofluorescence in children and teenagers with hereditary retinal diseases. Graefes Arch Clin Exp Ophthalmol 244:36-45
48. Tsang SH, Vaclavik V, Bird AC, Robson AG, Holder GE (2007) Novel phenotypic and genotypic findings in X-linked retinoschisis. Arch Ophthalmol 125:259-267