Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: A newly identified compound heterozygous mutation and review of the literature

Documenta Ophthalmologica

Volumn 125, Issue 1, 2012, Pages 51-62

  Wang, Nan Kai ^a,b   Chuang, Lan Hsin ^a,b   Lai, Chi Chun ^a,b   Chou, Chai Lin ^c   Chu, Hsueh Yen ^a,b   Yeung, Ling ^a,b   Chen, Yen Po ^a,b   Chen, Kuan Jen ^a,b   Wu, Wei Chi ^a,b   Chen, Tun Lu ^a,b   Chao, An Ning ^a,b   Hwang, Yih Shiou ^a,b  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Fundus albipunctatus; Infrared reflectance imaging; Retinol dehydrogenase; Visual cycle

Indexed keywords

OXIDOREDUCTASE; RETINOL DEHYDROGENASE 5; UNCLASSIFIED DRUG;

ADULT; AGED; AUTOFLUORESCENCE IMAGING; CLINICAL ARTICLE; ELECTRORETINOGRAPHY; EYE FUNDUS ALBIPUNCTATUS; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INFRARED SPECTROMETRY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OPHTHALMOSCOPY; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; REVIEW; VISUAL ACUITY;

ADOLESCENT; ADULT; AGED; ALCOHOL OXIDOREDUCTASES; AMINO ACID SEQUENCE; CARRIER PROTEINS; CHILD; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NIGHT BLINDNESS; OPHTHALMOSCOPY; PEDIGREE; POLYMERASE CHAIN REACTION; RETINA; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISION, OCULAR;

EID: 84864284547     PISSN: 00124486     EISSN: 15732622     Source Type: Journal    
DOI: 10.1007/s10633-012-9336-z     Document Type: Review

References (50)

1. Mooren A (1882) Fünf Lustren Ophthalmologische Wirksamkeit. Verlag Von J. F, Bergmann
2. H Lauber 1910 Die sogenannte Retinitis punctata albescens Klin Monatsbl Augenheilkd 48 133 148
3. H Yamamoto A Simon U Eriksson E Harris EL Berson TP Dryja 1999 Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus Nat Genet 22 188 191 10369264 10.1038/9707 1:CAS:528:DyaK1MXjvVeltr8%3D (Pubitemid 29264816)
4. AE Krill MR Folk 1962 Retinitis punctata albescens. A functional evaluation of an unusual case Am J Ophthalmol 53 450 455 14459667 1:STN:280:DyaF38%2FmtFSrtw%3D%3D
5. Krill AE (1977) Krill's hereditary retinal and choroidal diseases, vol 1. Harper & Row Hagerstown, MD
6. A Simon U Hellman C Wernstedt U Eriksson 1995 The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases J Biol Chem 270 1107 1112 7836368 10.1074/jbc.270.3.1107 1:CAS:528:DyaK2MXjtFOksLs%3D
7. CA Driessen BP Janssen HJ Winkens AH van Vugt TL de Leeuw JJ Janssen 1995 Cloning and expression of a cDNA encoding bovine retinal pigment epithelial 11-cis retinol dehydrogenase Invest Ophthalmol Vis Sci 36 1988 1996 7544779 1:STN:280:DyaK2Mzos1equg%3D%3D
8. S Schmitz-Valckenberg FG Holz AC Bird RF Spaide 2008 Fundus autofluorescence imaging: review and perspectives Retina 28 385 409 18327131 10.1097/IAE.0b013e318164a907 (Pubitemid 351354940)
9. NK Wang HF Fine S Chang CL Chou W Cella J Tosi CS Lin T Nagasaki SH Tsang 2009 Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene Br J Ophthalmol 93 1234 1240 19429590 10.1136/bjo.2008. 153577
10. H Morimura EL Berson TP Dryja 1999 Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens Invest Ophthalmol Vis Sci 40 1000 1004 10102299 1:STN:280: DyaK1M3gtVChsA%3D%3D (Pubitemid 29153268)
11. DC Hood X Zhang R Ramachandran CL Talamini A Raza JP Greenberg J Sherman SH Tsang DG Birch 2011 The inner segment/outer segment border seen on optical coherence tomography is less intense in patients with diminished cone function Invest Ophthalmol Vis Sci 52 9703 9709 22110066 10.1167/iovs.11-8650
12. Wang NK, Lai CC, Chu HY, Chen YP, Chen KJ, Wu WC, Yeh LK, Chuang LH, Chen TL (2012) Classification of early dry-type myopic maculopathy with macular choroidal thickness. Am J Ophthalmol 153:669-677, 677.e1-2
13. MF Marmor AB Fulton GE Holder Y Miyake M Brigell M Bach 2009 ISCEV standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 69 77 19030905 10.1007/s10633-008-9155-4 1:STN:280: DC%2BD1M%2FnvVGjsQ%3D%3D
14. PI Sergouniotis EH Sohn Z Li VA McBain GA Wright AT Moore AG Robson GE Holder AR Webster 2011 Phenotypic variability in RDH5 retinopathy (fundus albipunctatus) Ophthalmology 118 1661 1670 21529959 10.1016/j.ophtha.2010.12.031
15. M Nakamura J Skalet Y Miyake 2003 RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus Doc Ophthalmol 107 3 11 12906118 10.1023/A:1024498826904 (Pubitemid 36896234)
16. M Nakamura Y Hotta A Tanikawa H Terasaki Y Miyake 2000 A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene Invest Ophthalmol Vis Sci 41 3925 3932 11053295 1:STN:280: DC%2BD3M%2FisFSnug%3D%3D
17. Y Miyake N Shiroyama S Sugita M Horiguchi K Yagasaki 1992 Fundus albipunctatus associated with cone dystrophy Br J Ophthalmol 76 6 375 379 1622952 10.1136/bjo.76.6.375 1:STN:280:DyaK38zit1KlsQ%3D%3D
18. MF Marmor 1977 Fundus albipunctatus: a clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism Doc Ophthalmol 43 277 302 302784 10.1007/BF01569200 1:STN:280:DyaE1c%2Fgt12ktQ%3D%3D (Pubitemid 8131588)
19. MA Genead GA Fishman M Lindeman 2010 Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens Ophthalmic Genet 31 66 72 20450307 10.3109/13816810903584971
20. G Querques P Carrillo L Querques AV Bux MV Del Curatolo N Delle Noci 2009 High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy Arch Ophthalmol 127 703 706 19433727 10.1001/archophthalmol.2009.87
21. P Schatz M Preising B Lorenz B Sander M Larsen T Rosenberg 2011 Fundus albipunctatus associated with compound heterozygous mutations in RPE65 Ophthalmology 118 888 894 21211845 10.1016/j.ophtha.2010.09.005
22. P Schatz M Preising B Lorenz B Sander M Larsen C Eckstein T Rosenberg 2010 Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5 Retina 30 1704 1713 20829743 10.1097/IAE.0b013e3181dc050a
23. A Franceschetti P Dieterle F Ammann F Marty 1963 A new form of fundus albipunctatus with hemeralopia Ophthalmologica 145 403 410 13959115 10.1159/000304465 1:STN:280:DyaF387ltVymtw%3D%3D
24. S Margolis IM Siegel H Ripps 1987 Variable expressivity in fundus albipunctatus Ophthalmology 94 1416 1422 3500444 1:STN:280: DyaL1c%2FmslSmsw%3D%3D (Pubitemid 17152245)
25. M Hajali GA Fishman TP Dryja MO Sweeney M Lindeman 2009 Diagnosis in a patient with fundus albipunctatus and atypical fundus changes Doc Ophthalmol 118 233 238 18949499 10.1007/s10633-008-9151-8
26. GA Fishman MF Roberts DJ Derlacki JL Grimsby H Yamamoto D Sharon KM Nishiguchi TP Dryja 2004 Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes Arch Ophthalmol 122 70 75 14718298 10.1001/archopht.122.1.70 1:CAS:528: DC%2BD2cXhtVWrsbs%3D (Pubitemid 38063608)
27. L Granse M Abrahamson V Ponjavic S Andreasson 2001 Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene Ophthalmic Genet 22 97 105 11449319 10.1076/opge.22.2.97.2231 1:STN:280:DC%2BD3MzpslSqtg%3D%3D (Pubitemid 32881496)
28. N Katsanis NF Shroyer RA Lewis JC Cavender AA Al-Rajhi M Jabak JR Lupski 2001 Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 Clin Genet 59 424 429 11453974 10.1034/j.1399-0004. 2001.590607.x 1:STN:280:DC%2BD3MvhvVKmuw%3D%3D (Pubitemid 32605809)
29. A Simon A Romert AL Gustafson JM McCaffery U Eriksson 1999 Intracellular localization and membrane topology of 11-cis retinol dehydrogenase in the retinal pigment epithelium suggest a compartmentalized synthesis of 11-cis retinaldehyde J Cell Sci 112 549 558 9914166 1:CAS:528:DyaK1MXitVChsLc%3D (Pubitemid 29106201)
30. AE Krill BA Klien 1965 Flecked retina syndrome Arch Ophthalmol 74 496 508 5838365 10.1001/archopht.1965.00970040498011 1:STN:280:DyaF28%2Fjt1Kitg%3D%3D
31. RG Michels 1977 Flecked retina syndrome Int Ophthalmol Clin 17 35 74 68021 10.1097/00004397-197701720-00006 1:STN:280:DyaE2s7oslWmsw%3D%3D
32. M Uyemura 1928 Ueber eine merkwurdige Augenhintergrundveranderung bei zwei Fallen yon idiopathischer Hemeralopie Klin Monatsbl Augenheilkd 81 471 473
33. TK Hing 1965 Further contributions to the fundus xerophthalmicus Ophthalmologica 150 219 238 5295496 10.1159/000304849 1:STN:280: DyaF287gt1CqsQ%3D%3D
34. NS Levy PP Toskes 1974 Fundus albipunctatus and vitamin A deficiency Am J Ophthalmol 78 926 929 4548310 1:CAS:528:DyaE2MXktVOkt7o%3D
35. TW Isaacs IL McAllister MS Wade 1996 Benign fleck retina Br J Ophthalmol 80 267 268 8703867 10.1136/bjo.80.3.267 1:STN:280:DyaK28zlsV2gsw%3D%3D
36. S Airiani W Cella CL Chou J Tosi SH Tsang 2008 Benign panretinal uniform radial linear-shaped flecks Clin Exp Ophthalmol 36 891 894 10.1111/j.1442-9071. 2009.01906.x
37. RE Carr S Margolis IM Siegel 1976 Fluorescein angiography and vitamin A and oxalate levels in fundus albipunctatus Am J Ophthalmol 82 549 558 1086061 1:STN:280:DyaE2s%2FhvFCrsA%3D%3D
38. MF Marmor 1990 Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus Ophthalmology 97 380 384 2336278 1:STN:280:DyaK3c3ksFCjsA%3D%3D (Pubitemid 20087989)
39. B Lorenz B Wabbels E Wegscheider CP Hamel W Drexler MN Preising 2004 Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65 Ophthalmology 111 1585 1594 15288992 10.1016/j.ophtha.2004.01.033 (Pubitemid 39030816)
40. A Braunstein D Trief NK Wang S Chang SH Tsang 2010 Vitamin A deficiency in New York City Lancet 376 267 20663549 10.1016/S0140-6736(09)61874-2
41. AE Elsner SA Burns JJ Weiter FC Delori 1996 Infrared imaging of sub-retinal structures in the human ocular fundus Vis Res 36 191 205 8746253 10.1016/0042-6989(95)00100-E 1:STN:280:DyaK28zmt1emtw%3D%3D (Pubitemid 126755364)
42. A Anastasakis GA Fishman M Lindeman MA Genead W Zhou 2011 Infrared scanning laser ophthalmoscope imaging of the macula and its correlation with functional loss and structural changes in patients with Stargardt disease Retina 31 949 958 21293320 10.1097/IAE.0b013e3181f441f6
43. JR Sparrow Y Wu CY Kim J Zhou 2010 Phospholipid meets all-trans-retinal: the making of RPE bisretinoids J Lipid Res 51 247 261 19666736 10.1194/jlr.R000687 1:CAS:528:DC%2BC3cXptVWgsQ%3D%3D
44. SA Zweifel RF Spaide LA Yannuzzi 2011 Acquired vitelliform detachment in patients with subretinal drusenoid deposits (reticular pseudodrusen) Retina 31 229 234 20966822 10.1097/IAE.0b013e3181f049bd
45. Y Niwa M Kondo S Ueno M Nakamura H Terasaki Y Miyake 2005 Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study Invest Ophthalmol Vis Sci 46 1480 1485 15790919 10.1167/iovs.04-0638 (Pubitemid 41685893)
46. CA Driessen BP Janssen HJ Winkens LD Kuhlmann AH Van Vugt AJ Pinckers AF Deutman JJ Janssen 2001 Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus Ophthalmology 108 1479 1484 11470705 10.1016/S0161-6420(01)00640-6 1:STN:280:DC%2BD3MvitFGntw%3D%3D (Pubitemid 32709041)
47. M Liden A Romert K Tryggvason B Persson U Eriksson 2001 Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus J Biol Chem 276 49251 49257 11675386 10.1074/jbc.M107337200 1:CAS:528:DC%2BD38Xktlelug%3D%3D
48. CA Driessen HJ Winkens K Hoffmann LD Kuhlmann BP Janssen AH Van Vugt JP Van Hooser BE Wieringa AF Deutman K Palczewski K Ruether JJ Janssen 2000 Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters Mol Cell Biol 20 4275 4287 10825191 10.1128/MCB.20.12.4275-4287.2000 1:CAS:528:DC%2BD3cXjvFWrs7g%3D (Pubitemid 30346622)
49. M Nakamura Y Miyake 2002 Macular dystrophy in a 9-year-old boy with fundus albipunctatus Am J Ophthalmol 133 278 280 11812441 10.1016/S0002-9394(01) 01304-6 (Pubitemid 34072066)
50. M Nakamura J Lin Y Miyake 2004 Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy Arch Ophthalmol 122 1203 1207 15302662 10.1001/archopht.122.8.1203 (Pubitemid 39031137)