Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 7, 2013, Pages 4683-4690

  van Huet, Ramon A C ^a   Estrada Cuzcano, Alejandro ^a,b   Banin, Eyal ^c   Rotenstreich, Ygal ^d   Hipp, Stephanie ^e   Kohl, Susanne ^e   Hoyng, Carel B ^a   den Hollander, Anneke I ^a   Collin, Rob W J ^a,b   Klevering, B Jeroen ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d SHEBA MEDICAL CENTER   (Israel)

^e Centre for Ophthalmology   (Germany)

Author keywords

C8orf37; Clinical characteristics; Cone rod dystrophy; Retinitis pigmentosa

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; C8ORF37 GENE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; OPHTHALMOSCOPY; PERIMETRY; PRIORITY JOURNAL; RETINA CONE; RETINA DETACHMENT; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; SCHOOL CHILD; SLIT LAMP; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; VISUAL FIELD;

C8ORF37; CLINICAL CHARACTERISTICS; CONE-ROD DYSTROPHY; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; FEMALE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROTEINS; RETINITIS PIGMENTOSA; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 84880094238     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-11439     Document Type: Article

References (48)

1. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:357-365.
2. Rosenberg T. Epidemiology of hereditary ocular disorders. Dev Ophthalmol. 2003;37:16-33.
3. Berson EL. Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci. 1993;34:1659-1676.
4. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88:291-297.
5. Hamel CP. Cone rod dystrophies (Abstract). Orphanet J Rare Dis. 2007;2:7.
6. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.
7. Deutman AF, ed. Rod-Cone Dystrophy, Hereditary, Pigmentary Retinopathy, Retinitis Pigmentosa. Hagerstown, MD: Harper & Row; 1977:479-576.
8. Gouras P, Carr RE. Electrophysiological studies in early retinitis pigmentosa. Arch Ophthalmol. 1964;72:104-110.
9. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994;264:1604-1608.
10. Dryja TP, Hahn LB, Kajiwara K, Berson EL. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997;38: 1972-1982.
11. Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010;29:335-375.
12. Daiger SP, Rossiter BJF, Greenberg J, Christoffels A, Hide W. RetNet, the Retinal Information Network. Accessed on February 26, 2013;http://www.sph.uth.tmc.edu/RetNet/.
13. den Hollander AI, Black A, Bennett J, Cremers FP. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest. 2010;120:3042-3053.
14. Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-362.
15. Tuson M, Marfany G, Gonzalez-Duarte R. Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am J Hum Genet. 2004;74:128-138.
16. Estrada-Cuzcano A, Neveling K, Kohl S, et al. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012;90:102-109.
17. 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.
18. Tick S, Rossant F, Ghorbel I, et al. Foveal shape and structure in a normal population. Invest Ophthalmol Vis Sci. 2011;52: 5105-5110.
19. Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, et al. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2008;49:2709-2713.
20. Mackay DS, Henderson RH, Sergouniotis PI, et al. Novel mutations in MERTK associated with childhood onset rodcone dystrophy. Mol Vis. 2010;16:369-377.
21. Koenekoop RK, Loyer M, Hand CK, et al. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol. 2003;136:678-687.
22. Campo RV, Aaberg TM. Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol. 1982;94:750-756.
23. Maguire AM, High KA, Auricchio A, et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009;374:1597-1605.
24. Allikmets R, Singh N, Sun H, et al. A photoreceptor cellspecific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15: 236-246.
25. Klevering BJ, Yzer S, Rohrschneider K, et al. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet. 2004;12:1024-1032.
26. Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 2005; 243:90-100.
27. Bayes M, Goldaracena B, Martinez-Mir A, et al. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet. 1998;35:141-145.
28. Ali M, Ramprasad VL, Soumittra N, et al. A missense mutation in the nuclear localization signal sequence of CERKL (p. R106S) causes autosomal recessive retinal degeneration. Mol Vis. 2008;14:1960-1964.
29. Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. Invest Ophthalmol Vis Sci. 2007;48:5431-5438.
30. Tang Z, Wang Z, Ke T, Wang QK, Liu M. Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family. Arch Ophthalmol. 2009;127:1077-1078.
31. Avila-Fernandez A, Cantalapiedra D, Aller E, et al. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis. 2010;16:2550-2558.
32. Vekslin S, Ben-Yosef T. Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina. Mol Vis. 2010;16: 2539-2549.
33. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med. 2011;364:1533-1543.
34. Mockel A, Perdomo Y, Stutzmann F, Letsch J, Marion V, Dollfus H. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res. 2011;30: 258-274.
35. Gerdes JM, Davis EE, Katsanis N. The vertebrate primary cilium in development, homeostasis, and disease. Cell. 2009; 137:32-45.
36. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006;7:125-148.
37. Koenekoop RK. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Ophthalmic Genet. 2005;26:175-179.
38. Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA. Non-syndromic retinal ciliopathies: translating gene discovery into therapy. Hum Mol Genet. 2012;21(R1):R111-R124.
39. Hosch J, Lorenz B, Stieger K. RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy. Ophthalmic Genet. 2011;32:1-11.
40. Zito I, Downes SM, Patel RJ, et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003;40:609-615.
41. Iannaccone A, Breuer DK, Wang XF, et al. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet. 2003; 40:e118.
42. Zguricas J, Heus H, Morales-Peralta E, et al. Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. J Med Genet. 1999;36:32-40.
43. Azari AA, Aleman TS, Cideciyan AV, et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci. 2006;47:5004-5010.
44. Cox KF, Kerr NC, Kedrov M, et al. Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Res. 2012;75:77-87.
45. Jayasundera T, Branham KE, Othman M, et al. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010;128:915-923.
46. Lorenz B, Andrassi M, Kretschmann U. Phenotype in two families with RP3 associated with RPGR mutations. Ophthalmic Genet. 2003;24:89-101.
47. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000; 66:1975-1978.
48. Estrada-Cuzcano A, Koenekoop RK, Senechal A, et al. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol. 2012;130:1425-1432.