Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W)

Optometry and Vision Science

Volumn 89, Issue 5, 2012, Pages 684-691

  Hayashi, Takaaki ^a   Gekka, Tamaki ^a   Kozaki, Kenichi ^a   Ohkuma, Yasuhiro ^a   Tanaka, Isako ^b   Yamada, Hisashi ^a   Tsuneoka, Hiroshi ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Tanaka Eye Clinic   (Japan)

Author keywords

electroretinography; genetics; macular degeneration; mutation analysis; optical coherence tomography; retinal disorder

Indexed keywords

ELECTRORETINOGRAPHY; GENETICS; MACULAR DEGENERATION; MUTATION ANALYSIS; RETINAL DISORDER;

GENES; OPHTHALMOLOGY;

OPTICAL TOMOGRAPHY;

DNA; EYE PROTEIN; RP1L1 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BLOOD; COMPARATIVE STUDY; DIFFERENTIAL DIAGNOSIS; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HUMAN; MIDDLE AGED; MUTATION; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PROGNOSIS; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDY; TIME;

ADULT; AGED; DIAGNOSIS, DIFFERENTIAL; DNA; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; FOLLOW-UP STUDIES; FUNDUS OCULI; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; OPHTHALMOSCOPY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; RETINAL PIGMENT EPITHELIUM; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDIES; TIME FACTORS; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84861097520     PISSN: 10405488     EISSN: None     Source Type: Journal    
DOI: 10.1097/OPX.0b013e31824eea32     Document Type: Article

References (21)

1. Miyake Y, Ichikawa K, Shiose Y, Kawase Y. Hereditary macular dystrophy without visible fundus abnormality. Am J Ophthalmol 1989; 108:292-9. (Pubitemid 19228967)
2. Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Taka-hashi H, Suzuki S, Terasaki H. Occult macular dystrophy. Am J Ophthalmol 1996;122:644-53. (Pubitemid 26371372)
3. Piao CH, Kondo M, Tanikawa A, Terasaki H, Miyake Y. Multifocal electroretinogram in occult macular dystrophy. Invest Ophthalmol Vis Sci 2000;41:513-7. (Pubitemid 30080456)
4. Lyons JS. Non-familial occult macular dystrophy. Doc Ophthalmol 2005;111:49-56.
5. Kondo M, Ito Y, Ueno S, Piao CH, Terasaki H, Miyake Y. Foveal thickness in occult macular dystrophy. Am J Ophthalmol 2003;135: 725-8. (Pubitemid 36457990)
6. Brockhurst RJ, Sandberg MA. Optical coherence tomography findings in occult macular dystrophy. Am J Ophthalmol 2007;143: 516-8.
7. Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y. Fundus autofluorescence in autosomal dominant occult macular dystrophy. Arch Ophthalmol 2011;129:597-602.
8. Kim YG, Baek SH, Moon SW, Lee HK, Kim US. Analysis of spectral domain optical coherence tomography findings in occult macular dystrophy. Acta Ophthalmol 2011;89:52-6.
9. Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet 2010;87:424-9.
10. Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Ogu-chi disease with markedly reduced cone responses. Ophthalmology 2007;114:134-41.
11. Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H. A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. Invest Ophthalmol Vis Sci 2010;51:1643-50.
12. Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol Vis 2003;9:129-37. (Pubitemid 38097577)
13. Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I. High-resolution in vivo imaging in achromatopsia. Ophthalmology 2011; 118:882-7.
14. Koizumi H, Maguire JI, Spaide RF. Spectral domain optical coherence tomographic findings of occult macular dystrophy. Ophthalmic Surg Lasers Imaging 2009;40:174-6.
15. Curcio CA, Sloan KR, Jr., Packer O, Hendrickson AE, Kalina RE. Distribution of cones in human and monkey retina: individual variability and radial asymmetry. Science 1987;236:579-82. (Pubitemid 17069926)
16. Chui TY, Song H, Burns SA. Adaptive-optics imaging of human cone photoreceptor distribution. J Opt Soc Am (A) 2008;25: 3021-9.
17. Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A, Banfi S. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur J Hum Genet 2003;11:155-62. (Pubitemid 36372389)
18. Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP. Linkage mapping of au-tosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 1991;11:857-69.
19. Yamashita T, Liu J, Gao J, LeNoue S, Wang C, Kaminoh J, Bowne SJ, Sullivan LS, Daiger SP, Zhang K, Fitzgerald ME, Kefalov VJ, Zuo J. Essential and synergistic roles of RP1 and RP1L1 in rod photore-ceptor axoneme and retinitis pigmentosa. J Neurosci 2009;29: 9748-60.
20. Chiang SW, Wang DY, Chan WM, Tam PO, Chong KK, Lam DS, Pang CP. A novel missense RP1 mutation in retinitis pigmentosa. Eye (Lond) 2006;20:602-5. (Pubitemid 43675000)
21. Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP. Differential pattern of RP1 mutations in retinitis pigmentosa. Mol Vis 2010;16:1353-60.