Hereditary retinal disease

Current Opinion in Ophthalmology

Volumn 19, Issue 3, 2008, Pages 255-262

  Goodwin, Peter ^a,b  

^a Philadelphia Retina Endowment Fund ^*

^b Philadelphia Retina Endowment Fund   (United States)

Author keywords

Best's disease; Congenital stationary night blindness; Leber's congenital amaurosis; Ocular genetics; Retinitis pigmentosa; Stargardt's disease; X linked retinoschisis

Indexed keywords

ADENOVIRUS VECTOR; PERIPHERIN; PROTEIN; RETINOSCHISIN; UNCLASSIFIED DRUG;

BLOOD SAMPLING; ELECTRORETINOGRAPHY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; HERITABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NONHUMAN; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA GANGLION CELL; RETINA MACULA VITELLIFORM DEGENERATION; RETINITIS PIGMENTOSA; RETINOSCHISIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STARGARDT DISEASE; THERAPY EFFECT; TREATMENT OUTCOME; TREATMENT RESPONSE; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; GENETIC SCREENING; GENETIC TECHNIQUES; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE; PROGNOSIS; RETINAL DISEASES;

EID: 42149108469     PISSN: 10408738     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICU.0b013e3282fc27fc     Document Type: Review

References (73)

1. Sandberg MA, Rosner B, Weigel-DiFranco C, et al. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci 2007; 48:1298-1304.
2. Aleman TS, Cideciyan AV, Sumaroka A, et al. Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci 2007; 48:4759-4765.
3. Walia S, Fishman GA, Edward DP, Lindeman M. Retinal nerve fiber layer defects in RP patients. Invest Ophthalmol Vis Sci 2007; 48:4748-4752.
4. Grondahl J, Riise R, Heiberg A, et al. Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis: two novel rhodopsin mutations: 1003delG and I179F. Acta Ophthalmol Scand 2007; 85:287-297. Extensive follow-up of retinitis pigmentosa patients with genotype-phenotype correlations.
5. Leroy BP, Kailasanathan A, De Laey J-J, et al. Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. Br J Ophthalmol 2007; 91:89-93.
6. Berson EL. Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture. Exp Eye Res 2007; 85:7-14. Provides a technique for predicting long-term visual prognosis in retinitis pigmentosa patients.
7. Gamundi MJ, Herman I, Muntanyola M, et al. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis 2007; 13:1031-1037.
8. Waseem NH, Vaclavik V, Webster A, et al. Mutations in the gene coding for the premRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007; 48:1330-1334.
9. Ghazawy S, Springell K, Gauba V, et al. Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31. Br J Ophthalmol 2007; 91:1411-1414.
10. Chakarova CE, Papaioannou MG, Khanna H, et al. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet 2007; 8:1098-1103.
11. Zhang Q, Zulfiqar F, Xiao X, et al. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet 2007; 122:293-299.
12. Chang W, Ding Q, Tang Z, et al. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. Mol Vis 2007; 13:1548-1554.
13. Jin ZB, Gu F, Ma X, Nao-I N. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinits pigmentosa. Arch Ophthalmol 2007; 125:1407-1412.
14. Barragan I, Borrego S, Abd El-Aziz MM, et al. Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterization of novel VNTRs. Ann Hum Genet 2007; 72:26-34.
15. Guyon R, Pearce-Kelling SE, Zeiss CJ, et al. Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. Mol Vis 2007; 13:1094-1105.
16. Mordes D, Yuan L, Xu L, et al. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Neurobiol Dis 2007; 26:291-300.
17. O'Reilly M, Palfi A, Chadderton N, et al. RNA interference- mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet 2007; 81:127-135. A novel approach to treating retinitis pigmentosa is successfully applied.
18. Canola K, Angenieux B, Tekaya M, et al. Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate. Invest Ophthalmol Vis Sci 2007; 48:446-454.
19. Tomita H, Sugano E, Yawo H, et al. Restoration of visual response in aged dystrophic RCS rats using AAV-mediated channelopsin-2 gene transfer. Invest Ophthalmol Vis Sci 2007; 48:3821-3826. A novel approach to treating retinitis pigmentosa is successfully applied.
20. Schuster A, Janecke AR, Wilke R, et al. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Invest Ophthalmol Vis Sci 2007; 48:1824-1831.
21. Jacobson SG, Cideciyan AV, Aleman TS, et al. RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci 2007; 48:332-338.
22. Simonelli F, Ziviello C, Testa F, et al. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci 2007; 48:4284-4290.
23. Sun W, Gerth C, Maeda A, et al. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. Vis Res 2007; 47:2055-2066.
24. Perrault I, Delphin N, Hanein S, et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mut 2007; 28:416.
25. Wang P, Guo X, Zhang Q. Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation. Graefes Arch Clin Exp Ophthalmol 2007; 245:1401-1402.
26. Le Meur C, Stieger K, Smith AJ, et al. Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Gene Ther 2007; 14:292-303.
27. Jacobson SG, Cideciyan AV, Aleman TS, et al. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology 2007; 114:895-898.
28. University College London: First clinical trial of gene therapy for childhood blindness; 1 May 2007. London, UK: University College London; 2007. http://www.ucl.ac.uk/media/library/genetherapy [Accessed 27 February 2008].
29. USNational Institute of Health: Phase I trial of gene vector to patients with retinal disease due to RPE65 mutations. Rockville, Maryland, USA: US National Institute of Health; 2008. http://clinicaltrials.gov/ct/show/ NCT00481546;jsessionid=1D885B29C723E42F77EC598CF48FF90?order=2 [Accessed 27 February 2008].
30. Tsang SH, Vaclavik V, Bird AC, et al. Novel phenotypic and genotypic findings in X-linked retinoschisis. Arch Ophthalmol 2007; 125:259-267.
31. Shukla D, Rajendran A, Gibbs D, et al. Unusual manifestations of X-linked retinoschisis: clinical profile and diagnostic evaluation. Am J Ophthalmol 2007; 144:419-423. Highlights the varied clinical appearance of XLRS.
32. Suganthalakshmi B, Skukla D, Rajendran A, et al. Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. Mol Vis 2007; 13:611-617.
33. Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis 2007; 13:804-812.
34. Kim LS, Fishman GA, Szlyk JP. Multifocal ERG findings in carriers of X-linked retinoschisis. Doc Ophthalmol 2007; 114:21-26.
35. Saldana M, Thompson J, Monk E, et al. X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. Am J Med Genet A 2007; 143:608-609.
36. Jin Z, Nao-I N. A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis. Jpn J Ophthalmol 2007; 51:71-73.
37. Zeng M, Yi C, Guo X, et al. Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. Curr Eye Res 2007; 32:685-691.
38. Vijayasarathy C, Takada Y, Zeng Y, et al. Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci 2007; 48:991-1000.
39. Kjellstrom S, Bush RA, Zeng Y, et al. Retinoschisis gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 2007; 48:3837-3845.
40. Sikkink SK, Biswas S, Parry NRA, et al. X-linked retinoschisis: an update. J Med Genet 2007; 44:225-232. An excellent review article on clinical and genetic XLRS.
41. Wabbels B, Preising MN, Kretschmann U, et al. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol 2006; 244:1453-1466.
42. Vedantham V, Ramasamy K. Optical coherence tomography in Best's disease: an observational case report. Am J Ophthalmol 2005; 139:351-353.
43. Arora R, Das S, Shroff D, et al. In vivo microscopy of Best's vitelliform macular dystrophy: optical coherence tomography study of combined stage III and IV lesions. Clin Experiment Ophthalmol 2007; 35:287-291.
44. Mullins RF, Kuehn MH, Faidley EA, et al. Differential macular and peripheral expression of bestrophin in human eyes and its implication for Best disease. Invest Ophthalmol Vis Sci 2007; 48:3372-3380.
45. Merchant D, Yu K, Bigot K, et al. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet 2007; 44:e70. Six new mutations identified in VMD2.
46. Sodi A, Passerini I, Simonelli F, et al. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy. J Fr Ophthalmol 2007; 30:616-620.
47. Zhuk SA, Edwards AO. Peripherin/RDS VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. Mol Vis 2006; 12:811-815.
48. Beit-Ya'acov A, Mizrabi-Meissonnier L, Obolensky A, et al. Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. Invest Ophthalmol Vis Sci 2007; 48:4308-4314. A novel mutation is linked to a severe form of Stargardt's disease.
49. Valverde D, Riviero-Alvarez R, Aguirre-Lamban J, et al. Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. Invest Ophthalmol Vis Sci 2007; 48:985-990.
50. Rosenberg T, Klie F, Garred P, Schwartz M. N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. Mol Vis 2007; 13:1962-1969.
51. Boon CJF, vann Schooneveld MJ, den Hollander AI, et al. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol 2007; 91:1504-1511. A detailed phenotypic comparison between recessive and dominant forms of Stargardt's disease.
52. Yzer S, van den Born LI, Zonneveld MN, et al. Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. Mol Vis 2007; 13:1568-1572.
53. Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, et al. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Mol Vis 2007; 13:96-101.
54. Michaelides M, Chen LL, Brantley MA Jr, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br J Ophthalmol 2007; 91:1650-1655.
55. Stenirri S, Battistella S, Soriani N, et al. Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations. Eur J Ophthalmol 2007; 17:749-754.
56. McMahon A, Jackson SN, Woods AS, Kedzierski W. A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. FEBS Lett 2007; 581:5459-5463.
57. Li W, Chen Y, Cameron DJ, et al. Elovl4 haploinsufficency does not induce early onset retinal degeneration in mice. Vision Res 2007; 47:714-722.
58. Vedantham V, Jethani J, Vijayalakshmi P. Electroretinographic assessment and diagnostic reappraisal of children with visual dysfunction: a prospective study. Indian J Ophthalmol 2007; 55:113-116.
59. Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the CA2+ - binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 2006; 79:657-667. A novel association between CSNB and the CABP4 gene.
60. Jalkanen R, Bech-Hansen NT, Tobias R, et al. A novel CACNA1F gene mutation causes Aland island eye disease. Invest Ophthalmol Vis Sci 2007; 48:2498-2502. The mutation causing Aland Island eye disease is reported.
61. Szabo V, Kreienkamp HJ, Rosenberg T, Gal A. p.Gln200Glu, a putative constitutively active mutant of rod α-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat 2007; 28:741-742.
62. Hayashi T, Gekka T, Takeuchi T, et al. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. Ophthalmology 2007; 114:134-141.
63. Peloquin JB, Rehak R, Doering CJ, McRory JE. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. Neuroscience 2007; 150:335-345.
64. Yu M, Peachey NS. Attenuation of oscillatory potentials in nob2 mice. Doc Ophthalmol 2007; 115:173-186.
65. Bayley PR, Morgans CW. Rod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retina. J Comp Neurol 2007; 500:286-298.
66. Gregg RG, Kamermans M, Klooster J, et al. Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. J Neurophysiol 2007; 98:3023-3033.
67. Koenekoop RK, Lopez I, den Hollander AI, et al. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clin Experiment Ophthalmol 2007; 35:473-485. A concise review of genetic testing for retinal diseases and an introduction to the use of microarray gene chips in clinical practice.
68. National Eye Institute: National Ophthalmic Disease Genotyping Network (eyeGENE). Rockville, Maryland, USA: National Eye Institute; 2008. http://www.nei.nih.gov/resources/eyegene.asp [Accessed 27 February 2008].
69. University of Iowa: The John and Marcia Carver Nonprofit Genetic Testing Laboratory. Iowa City, Iowa, USA: University of Iowa; 2008. http://carverlab. org/index.shtml [Accessed 27 February 2008].
70. University of Michigan Kellogg Eye Center: Ophthalmic Molecular Diagnostic Laboratory. Ann Arbor, Michigan, USA: Kellogg Eye Center; 2008. http://www.kellogg.umich.edu/research/eyegenetest.fop.html [Accessed 27 February 2008].
71. Pomares E, Marfany G, Jose Brion M, et al. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Hum Mutat 2007; 28:511-516. The innovative application of high-throughput techniques for genotyping autosomal recessive retinitis pigmentosa alleles is discussed.
72. University of Washington, Seattle. Gene tests. Seattle, Washington, USA: University of Washington; 2008. http://www.geneclinics.org [Accessed 27 February 2008].
73. European Commission: European Directory of DNA Diagnostic Laboratories. Brussels, Belgium: European Commission; 2008. http://www.eddnal.com [Accessed 27 February 2008].