Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri

limon, utku; Sezgin Akçay, Betül İlkay

Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri

Utku LİMON, (Sağlık Bilimleri Üniversitesi Ümraniye Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Betül İlkay SEZGİN AKÇAY (Sağlık Bilimleri Üniversitesi Ümraniye Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Güncel Retina Dergisi

185 0

Yıl: 2021 Cilt: 5 Sayı: 2 Sayfa Aralığı: 165 - 172 Metin Dili: Türkçe İndeks Tarihi: 08-06-2021

Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri

Öz:

Kon-rod distrofileri esas olarak konilerin etkilendiği, rod-kon distrofileri (retinitis pigmentoza) ise esas olarak rodların etkilendiği pigmenter retinopatilerdir. Kon-rod distrofilerinde en sık görülen semptomlar ilerleyici olarak santral görmede azalma ve renkli görme kaybıdır. Rod-kon distrofilerinde en sık görülen semptomlar gece körlüğü ve görme alanında oluşan ilerleyici daralmadır. Her iki hastalığında ortak noktası genetik hasar sonucunda oluşan fotoreseptör hücre apoptozisi ve ölümüdür. Bu derlemenin amacı kon-rod ve rod-kon distrofileri ile ilgili güncel ve son literatür bilgilerinin sunulmasıdır.

Anahtar Kelime:

Progressive Cone-Dystrophy, Cone-Rod Dystrophy and Rod-Cone Dystrophies

Öz:

Cone-rod dystrophies are retinopathies which cones are mainly affected and rod-cone dystrophies (retinitis pigmentosa) are retinopathies which rods are mainly affected. The most common symptoms in cone-rod dystrophies are progressive decrease in central vision and color vision loss. The most common symptoms in rod-cone dystrophies are night blindness and progressive narrowing in the visual field. The common point in both diseases is photoreceptor cell apoptosis and death resulting from genetic damage. The aim of this review is to present up-to-date and recent literature information on cone-rod and rod-cone dystrophies.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Bibliyografik

Aboshiha J, Dubis AM, Carroll J, Hardcastle A, Michaelides M. The cone dysfunction syndromes. Br J Ophthalmol 2016;100(1):115–136.
Cabral T, Sengillo JD, Duong JK, Justus S, Boudreault K, Schuerch K et al. Retrospective analysis of structural disease progression in retinitis pigmentosa utilizing multimodal imaging. Sci Rep 2017; 7(1):10347.
SharonD, Banin E. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. Mol Vis. 2015;21(2):783–792.
Birch DG, Locke KG, Wen Y, Locke K, Hoffman D, Hood D. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. JAMA Ophthalmol 2013; 131(9):1143–1150.
Thiadens AA, Roosing S, Collin RW, Ramirez N, Verhoeven J, Schooneveld M, et al. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology 2010;117(4):825–855.
Boulanger-Scemama E, Shamieh S, Demontant V, Condroyer C, Antonio A, Michiels C, et al. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015;24(1):10-85.
Hamel CP, Griffoin JM, Bazalgette C, Lasquellec L, Duval P, Bareil C, et al. Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes. J Fr Ophtalmol. 2000;23(10):985–995.
Johnson S, Halford S, Morris AG, Patel R, Wilkie S, Hardcastle A, et al. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) Genomics. 2003; 81(3):304–314.
Vincent A, Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina 2013;1(1):5–12.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy B, Born L, Hoyng C, et al. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012;119(4):819–845.
Renner A.B, Fiebig B.S, Weber B.H.F, Wissinger B, Andreasson S, Gal A, et al. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. Am. J. Ophthalmol. 2009;147(3):518–530.
Lima LH, Sallum JM, Spaide RF. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. Retina 2013;33(9):1877–1957.
Demirci FY, Rigatti BW, Wen G, Radak A, Mah T, Baic C, et al. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002;70(4):1049–1053.
Aboshiha J, Luong V, Cowing J, Dubis A, Bainbridge J, Ali R, et al. Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. Invest Ophthalmol Vis Sci. 2014;55(10):6340-6349.
Wolfing JI, Chung M, Carroll J, Roorda A, Williams D. High-resolution retinal imaging of cone-rod dystrophy. Ophthalmology 2006;113(6):1014–1023.
Durlu YK, Koroglu C, Tolun A. Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol 2014;132(10):1185–1276.
Gill JS, Georgiou M, Kalitzeos A, Moore A, Michaeldes M. Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy. Br J Ophthalmol. 2019; 103(5):711-720.
Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol cand Suppl 2002; 233(1):1–34.
Fortuny C, Flannery JG. Mutation-Independent Gene Therapies for Rod-Cone Dystrophies. Adv Exp Med Biol. 2018;1074(1):75-81.
Churchill JD, Bowne SJ, Sullivan LS, Lewis R, Wheaton D, Birch D, et al. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5%of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013; 54(2):1411–1416.
Battu R, Khanna A, Hegde B, Berendschot T, Grover S, Schouten J. Correlation of structure and function of the macula in patients with retinitis pigmentosa. Eye (Lond) 2015; 29(7):895–901.
Gregory-Evans K, Weleber RG, Pennesi ME. Retinitis pigmentosa and allied disorders. In: Schachat AP, ed. Ryan’s Retina, 6th ed. Philadelphia: Elsevier; 2018:861.
Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clinical genetics 2013; 84(2):132–141.
Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007;125(2):151–158.
Ferrucci S, Anderson SF, Townsend JC. Retinitis pigmentosa inversa. Optom Vis Sci. 1998;75(8):560-70.
Wang B, Shen C, Zhang L, Qi L, Yao L, Chen J,et al. Dark adaptation-induced changes in rod, cone and intrinsically photosensitive retinal ganglion cell (ipRGC) sensitivity differentially affect the pupil light response (PLR). Graefes Arch Clin Exp Ophthalmol. 2015;253(11):1997-2005.
Dysli C, Schuerch K, Escher P, Wolf S, Zinkernagel MS. Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018;59(5):1769-1778.
Birch DG, Locke KG, Wen Y, Locke K, Hoffman D, Hood D. Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. JAMA Ophthalmol 2013; 131(9):1143–1150.
Ferrari, S, Di Iorio, E, Barbaro, V, Ponzin D, Sorrentino F, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr. Genomics. 2011;12(4):238–249.
Chan TCY, Lam SC, Mohamed S, Wong RLM. Survival analysis of visual improvement after cataract surgery in advanced retinitis pigmentosa. Eye (Lond). 2017;31(12):1747-1748.
Grover S, Fishman GA, Fiscella RG, Adelman A. Efficacy of dorzolamide hydrochloride in the management of chronic cystoid macular edema in patients with retinitis pigmentoza. Retina 1997;17(3):222-253.
Schatz A, Pach J, Gosheva M, Naycheva L, Willman G, Wilhelm B, et al. Transcorneal Electrical Stimulation for Patients With Retinitis Pigmentosa: A Prospective, Randomized, Sham-Controlled Follow-up Study Over 1 Year. Invest Ophthalmol Vis Sci. 2017; 58(1):257–269.
Arslan U, Özmert E. Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results. Adv Ther. 2020;37(5):2390-2412.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood L. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Nat Med. 2020;26(3):354-359.
Özmert E, Arslan U. Management of retinitis pigmentosa by Wharton’s jelly derived mesenchymal stem cells: preliminary clinical results. Stem Cell Res Ther. 2020; 13(1):11-25.
Özmert E, Arslan U. Retinal Prostheses and Artificial Vision. Turk J Ophthalmol. 2019;49(4):213-219.
Koitschev A, Stingl K, Bartz-Schmidt KU, Braun A, Sachs H, Peters T, et al. Extraocular surgical approach for placement of subretinal implants in blind patients: lessons from cochlear-implants. J Ophthalmol. 2015;2015(2):842518.

APA	limon u, Sezgin Akçay B (2021). Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. , 165 - 172.
Chicago	limon utku,Sezgin Akçay Betül İlkay Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. (2021): 165 - 172.
MLA	limon utku,Sezgin Akçay Betül İlkay Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. , 2021, ss.165 - 172.
AMA	limon u,Sezgin Akçay B Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. . 2021; 165 - 172.
Vancouver	limon u,Sezgin Akçay B Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. . 2021; 165 - 172.
IEEE	limon u,Sezgin Akçay B "Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri." , ss.165 - 172, 2021.
ISNAD	limon, utku - Sezgin Akçay, Betül İlkay. "Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri". (2021), 165-172.

APA	limon u, Sezgin Akçay B (2021). Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. Güncel Retina Dergisi, 5(2), 165 - 172.
Chicago	limon utku,Sezgin Akçay Betül İlkay Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. Güncel Retina Dergisi 5, no.2 (2021): 165 - 172.
MLA	limon utku,Sezgin Akçay Betül İlkay Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. Güncel Retina Dergisi, vol.5, no.2, 2021, ss.165 - 172.
AMA	limon u,Sezgin Akçay B Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. Güncel Retina Dergisi. 2021; 5(2): 165 - 172.
Vancouver	limon u,Sezgin Akçay B Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri. Güncel Retina Dergisi. 2021; 5(2): 165 - 172.
IEEE	limon u,Sezgin Akçay B "Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri." Güncel Retina Dergisi, 5, ss.165 - 172, 2021.
ISNAD	limon, utku - Sezgin Akçay, Betül İlkay. "Progresif Kon Distrofisi, Kon-Rod Distrofisi ve Rod-Kon Distrofileri". Güncel Retina Dergisi 5/2 (2021), 165-172.