BLACK CYBER WEEK! Publikacje i multimedia nawet do 80% taniej i darmowa dostawa od 350 zł! Sprawdź >
Podsumowanie
Mimo dokładnego poznania patofizjologii rozwarstwienia siatkówki związanego z chromosomem X oraz trwających zaawansowanych badań genetycznych w dalszym ciągu medycyna nie umożliwia leczenia przyczynowego. Najnowsze doniesienia naukowe dają jednak duże nadzieje związane z terapią genową, która może okazać się bardzo skuteczną metodą leczenia.
X-linked retinoschisis
Abstract
X-linked retinoschisis is a common genetic diseases of the retina, which involves macular degeneration. It affects almost exclusively men and the symptoms become apparent before the end of the first decade of life. This paper details the pathophysiology, symptoms and diagnosis of X-linked retinoschisis, including a brief discussion of the existing treatment options, e.g. gene therapy.
Piśmiennictwo
1. Haas J. Ueber das zusammenvorkommen von veranderungen der retina und choroidea. Arch Augenheikd 1898;37:343-8.
2. Gieser EP, Falls HF. Hereditary retinoschisis. Am J Ophthalmol 1961;51:1193-200.
3. Wu G, Cotlier E, Braudie S. A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet 1985;5:13-7.
4. Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997;17:164-70. PMID: 9326935.
5. Takada Y, Fariss RN, Muller M, et al. Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout. Mol Vis 2006;12:1108-16.
6. Baumgartner S, Hofmann K, Chiquet-Ehrismann R, Bucher P. The discoidin family revisited: New members from prokaryotes and a homology based fold prediction. Protein Sci 1998;7:1626-31.
7. Vogel W. Discoidin domain receptors: structural relations and functional implications. FASEB J 1999;13:S77-82.
8. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Hum Mol Genet 1998;7:1185-92.
9. Grayson C, Reid SN, Ellis JA, et al. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 2000;9:1873-9.
10. Molday LL, Hicks D, Sauer CG, et al. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 2001;42:816-25.
11. Molday RS, Warren R, Kim TS. Purification and biochemical analysis of cGMP-gated channel and Na/Ca(2)-K exchanger of rod photoreceptors. Methods Enzymol 2000;315:831-47.
12. Molday RS, Kellner U, Bernhard HF, et al. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res 2012;31:195-212.
13. McKibbin M, Booth AP, George ND. Foveal ectopia in X-linked retinoschisis. Retina 2001;21(4):361-6.
14. George ND, Yates JR, Bradshaw K, Moore AT. Infantile presentation of X linked retinoschisis. Br J Ophthalmol 1995;79(7):653-7.
15. Mitamura Y, Miyanishi K, Shizukawa N, et al. A case of X-linked retinoschisis diagnosed in an infant. Retina 2003;23(5):731-2.
16. George ND, Yates JR, Moore AT. X-linked retinoschisis. Br J Ophthalmol 1995;79:697-702.
17.Prenner JL, Capone A Jr, Ciaccia S, et al. Congenital X-linked retinoschisis classification system. Retina 2006;26:S61-S64.
18. Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina 2005;25(5):612-18.
19. Kellner U, Brummer S, Foerster MH, Wessing A. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990;228(5):432-7.
20. George ND, Yates JR, Moore AT. Clinical features in affected males with X linkedretinoschisis.Arch Ophthalmol 1996;114(3):274-80.
21. Campbell JP, Skalet AH, Lauer AK. Vitreous veils associated with congenital X-linked retinoschisis. JAMA Ophthalmol 2015;133(8):151-5.
22. Ando A, Takahashi K, Sho K, et al. Histopathological findings of X-linked retinoschisis with neovascular glaucoma. Graefes Arch Clin Exp Ophthalmol 2000;238(1):1-7.
23. Greven CM, Moreno RJ, Tasman W. Unusual manifestations of X-linked retinoschisis. Discussion 226-218. Trans Am Ophthalmol Soc 1990;88:211-25.
24. Tasman W, Greven C, Moreno R. Nasal retinal dragging in X-linked retinoschisis. Graefes Arch Clin Exp Ophthalmol 1991;229(4):319-22.
25. Sorsby A, Klein M, Gann JH, Siggins G. Unusual retinal detachment possibly sex-linked. Br J Ophthalmol 1951;35(1):1-10.
26. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000;4:127-31.
27. Sohn EH, Chen FK, Rubin GS, et al. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology 2010;117:1199-206.
28. Sharon D, Sandberg MA, Caruso RC, et al. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol 2003;121(9):1316-23.
29. Sikkink SK, Biswas S, Parry NR, et al. X-linked retinoschisis: an update. J Med Genet 2007;44(4):225-32.
30. Koh AH, Hogg CR, Holder GE. The incidence of negative ERG in clinical practice. Doc Ophthalmol 2001;102:19-30.
31. Renner AB, Kellner U, Cropp E, Foerster MH. Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogram. Graefes Arch Clin Exp Ophthalmol 2006;244:1467-73.
32. Sobaci G, Erdem U, Uysal Y, et al. Negative electroretinogram in the differential diagnosis of malingering of night blindness in the military. Mil Med 2007;172:402-4.
33. Bastos AL, Freitas Bde P, Villas Boas O, Ramiro AC. Use of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report. Arq Bras Oftalmol 2008;71(2):286-90.
34. 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.
35. Ghajarnia M, Gorin MB. Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch. Ophthalmol 2007;125:571-3.
36. Zhang L, Reyes R, Lee W, et al. Rapid resolution of retinoschisis with acetazolamide. Doc Ophthalmol 2015;131(1):63-70.
37. Ferrone PJ, Trese MT, Lewis H. Vitreoretinal surgery for complications of congenital retinoschisis. Am J Ophthalmol 1997;123:742-7.
38. Sobrin L, Berrocal AM, Murray TG. Retinal detachment 7 years after prophylactic schisis cavity excision in juvenile X-linked retinoschisis. Ophthalmic Surg Lasers Imaging 2003;34:401-2.
39. Zeng Y, Takada Y, Kjellstrom S, et al. RS-1 gene delivery to an adult RS1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci 2004;45:3279-85.
40. Min SH, Molday LL, Seeliger MW, et al. Prolonged recovery of retinal structure/function after gene therapy in an RS1h-deficient mouse model of X-linked juvenile retinoschisis. Mol Ther 2005;12:644-51.