Evidence-based diagnostic approach to inherited retinal dystrophies 2009;Evidenzbasierte diagnostik hereditärer netzhautdystrophien 2009

Klinische Monatsblatter fur Augenheilkunde

Volumn 226, Issue 12, 2009, Pages 999-1011

  Kellner, U ^a   Kellner, S ^a   Renner, A B ^b   Fiebig, B S ^c   Weinitz, S ^a   Weber, B H F ^c  

^a AugenZentrum Siegburg ^*  (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Electrophysiology; Fundus autofluorescence; Genetics; Optical coherence tomography; Retinal dystrophy

Indexed keywords

DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; EARLY DIAGNOSIS; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EVIDENCE BASED MEDICINE; FOLLOW UP; GENETIC ANALYSIS; HUMAN; MOLECULAR GENETICS; MORPHOLOGY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PATIENT COUNSELING; PERIMETRY; PRACTICE GUIDELINE; RETINA DYSTROPHY; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA DEGENERATION; REVIEW; SYMPTOM; VISUAL DISORDER;

ELECTRORETINOGRAPHY; EVIDENCE-BASED MEDICINE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; RETINAL DEGENERATION; RETINOSCOPY;

EID: 76649099767     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0028-1109684     Document Type: Review

References (83)

1. Renner A B. Hereditäre Retinopathien. Kellner U, Wachtlin J Retina Stuttgart Georg Thieme Verlag 2008 297-345
2. Kellner U. Hereditäre Erkrankungen von Netzhaut und Aderhaut. Augustin AJ Augenheilkunde. 2. ed Berlin Springer 2001 375-431
3. Michaelides M, Hardcastle A J., Hunt D M., et al. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol 2006 51 232-258
4. Ruther K, Leo-Kottler B. Diagnosis and management of hereditary optic atrophies and retinal degenerations. Klin Monatsbl Augenheilkd 2008 225 R143-159; quiz R 160 141
5. Kellner U, Renner A B., Tillack H. Hereditare Netzhaut-Aderhaut- DystrophienTeil 2: Differenzialdiagnose. Ophthalmologe 2004 101 397-412; quiz 413 394
6. Foerster M H., Kellner U, Wessing A. Cone dystrophy and supernormal dark-adapted b-waves in the electroretinogram. Graefes Arch Clin Exp Ophthalmol 1990 228 116-119
7. Kellner U, Foerster M H. Cone dystrophies with negative photopic electroretinogram. Br J Ophthalmol 1993 77 404-409
8. Kellner U, Zrenner E, Sadowski B, et al. Enhanced S cone syndrome, long-term follow-up, electrophysiological and psychophysical findings. Clin Vision Sci 1993 8 425-434
9. Kellner U. Cone-rod dystrophy with serpentine-like retinal deposits. Arch Ophthalmol 1998 116 1307-1313
10. Kellner U, Kraus H, Heimann H, et al. Electrophysiological evaluation of visual loss in Muller cell sheen dystrophy. Br J Ophthalmol 1998 82 650-654
11. Ruether K, Kellner U. Inner retinal function in hereditary retinal dystrophies. Acta Anat (Basel) 1998 162 169-177
12. Kellner U, Wissinger B, Kohl S, et al. Molekulargenetische Ergebnisse bei Patienten mit kongenitalen Zapfenfunktionsstorungen. Mutationen in den Genen CNGA3, CNGB3 oder GNAT2. Ophthalmologe 2004 101 830-835
13. Renner A B., Fiebig B S., Weber B H., et al. Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2 /RDS Gene Mutations. Am J Ophthalmol 2009 147 518-530
14. Renner A B., Kellner U, Fiebig B, et al. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS 1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol 2008 116 97-109
15. Kellner U, Kellner S, Weber B H., et al. Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa. Eye 2008 Epub ahead of print
16. Kellner S, Kellner U, Weber B HF, et al. Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies. Am J Ophthalmol 2009 Epub ahead of print
17. Felbor U, Schilling H, Weber B H. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat 1997 10 301-309
18. Weber B H., Sander S, Kopp C, et al. Analysis of 21 Stargardts disease families confirms a major locus on chromosome 1 p with evidence for non-allelic heterogeneity in a minority of cases. Br J Ophthalmol 1996 80 745-749
19. Weber B H., Vogt G, Pruett R C., et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsbys fundus dystrophy. Nat Genet 1994 8 352-356
20. Becker M, Rohrschneider K, Tilgen W, et al. Familiare juvenile Makuladystrophie mit kongenitaler Hypotrichosis capitis. Ophthalmologe 1998 95 233-240
21. Pauleikhoff D, Sauer C G., Muller C R., et al. Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. Am J Ophthalmol 1997 124 412-415
22. Nasonkin I, Illing M, Koehler M R., et al. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1 p21-p22.1 and identification of novel mutations in Stargardts disease. Hum Genet 1998 102 21-26
23. Sauer C G., Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997 17 164-170
24. Stohr H, Milenkowic V, Weber B H. VMD2 und seine Rolle bei Morbus Best und anderen Retinopathien. Ophthalmologe 2005 102 116-121
25. Renner A B., Tillack H, Kraus H, et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology 2005 112 586-592 (Pubitemid 41108857)
26. Maugeri A, Flothmann K, Hemmrich N, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 2002 10 197-203
27. Kramer F, Mohr N, Kellner U, et al. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mutat 2003 22 418
28. Keilhauer C N., Meigen T, Stohr H, et al. Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Ophthalmic Genet 2006 27 139-144
29. Keilhauer C N., Meigen T, Weber B H. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol 2006 124 1020-1027
30. Wutz K, Sauer C, Zrenner E, et al. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet 2002 10 449-456
31. White K, Marquardt A, Weber B H. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat 2000 15 301-308
32. Marquardt A, Stohr H, Passmore L A., et al. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Bests disease). Hum Mol Genet 1998 7 1517-1525
33. Gehrig A, White K, Lorenz B, et al. Assessment of RS 1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. Clin Genet 1999 55 461-465 (Pubitemid 29335644)
34. Strom T M., Nyakatura G, Apfelstedt-Sylla E, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 1998 19 260-263
35. Passmore L A., Kaesmann-Kellner B, Weber B H. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Hum Genet 1999 105 200-210
36. Kellner U, Tillack H, Renner A B. Hereditare Netzhaut-Aderhaut- DystrophienTeil 1: Pathogenese, Diagnostik, Therapie, Patientenbetreuung. Ophthalmologe 2004 101 307-319; quiz 320
37. Kellner U, Brummer S, Foerster M H., et al. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990 228 432-437
38. Kato K, Miyake Y, Kachi S, et al. Axial length and refractive error in X-linked retinoschisis. Am J Ophthalmol 2001 131 812-814
39. Kellner U, Ladewig M, Heinrich C. Hereditäre Netzhautdystrophien/ Hereditary retinal dystrophies: CD-ROM. Stuttgart Georg Thieme Verlag 2000
40. Kellner U, Kellner S. Klinik und Diagnostik der Zapfendystrophien. Ophthalmologe 2009 106 99-108
41. Ebenezer N D., Michaelides M, Jenkins S A., et al. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci 2005 46 1891-1898
42. Birch D G., Anderson J L., Fish G E. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology 1999 106 258-268
43. Renner A B., Kellner U, Cropp E, et al. Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogram. Graefes Arch Clin Exp Ophthalmol 2006 244 1467-1473
44. Audo I, Robson A G., Holder G E., et al. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol 2008 53 16-40
45. Wright A F., Reddick A C., Schwartz S B., et al. Mutation analysis of NR 2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat 2004 24 439
46. Wissinger B, Dangel S, Jagle H, et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci 2008 49 751-757
47. Marmor M F., Jacobson S G., Foerster M H., et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990 110 124-134
48. Kellner U, Sadowski B, Zrenner E, et al. Selective cone dystrophy with protan genotype. Invest Ophthalmol Vis Sci 1995 36 2381-2387
49. Kretschmann U, Seeliger M W., Ruether K, et al. Multifocal electroretinography in patients with Stargardts macular dystrophy. Br J Ophthalmol 1998 82 267-275 (Pubitemid 28177115)
50. Renner A B., Kellner U, Tillack H, et al. Recording of both VEP and multifocal ERG for evaluation of unexplained visual loss electrophysiology in unexplained visual loss. Doc Ophthalmol 2005 111 149-157
51. Genderen M van, Riemslag F, Jorritsma F, et al. The key role of electrophysiology in the diagnosis of visually impaired children. Acta Ophthalmol Scand 2006 84 799-806
52. Kellner U, Jandeck C, Kraus H, et al. Hereditare Makuladystrophien. Ophthalmologe 1998 95 597-601
53. Robson A G., Michaelides M, Saihan Z, et al. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol 2008 116 79-89
54. Theelen T, Boon C J., Klevering B J., et al. Fundusautofluoreszenz bei erblichen Netzhauterkrankungen: Fluoreszenzmuster in zwei verschiedenen Wellenlangenbereichen. Ophthalmologe 2008 105 1013-1022
55. Preising M N., Paunescu K, Friedburg C, et al. Genetic and clinical heterogeneity in LCA patients. The end of uniformity. Ophthalmologe 2007 104 490-498
56. Wabbels B, Demmler A, Paunescu K, et al. Fundus autofluorescence in children and teenagers with hereditary retinal diseases. Graefes Arch Clin Exp Ophthalmol 2006 244 36-45
57. Lorenz B, Wabbels B, Wegscheider E, et al. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology 2004 111 1585-1594
58. Renner A B., Kellner U, Cropp E, et al. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 2006 113 2066 e2061-e2010
59. Wegscheider E, Preising M N., Lorenz B. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefes Arch Clin Exp Ophthalmol 2004 242 501-511
60. Poloschek C M., Kloeckener-Gruissem B, Hansen L L., et al. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci 2008 49 4096-4104
61. Robson A G., Saihan Z, Jenkins S A., et al. Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br J Ophthalmol 2006 90 472-479
62. Hajali M, Fishman G A., Anderson R J. The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography. Br J Ophthalmol 2008 92 1065-1068
63. Iannaccone A, Fung K H., Eyestone M E., et al. Treatment of Adult-Onset Acute Macular Retinoschisis in Enhanced S-cone Syndrome With Oral Acetazolamide. Am J Ophthalmol 2009 147 307-312
64. Barthelmes D, Sutter F K., Kurz-Levin M M., et al. Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. Invest Ophthalmol Vis Sci 2006 47 1161-1166
65. Jacobson S G., Cideciyan A V., Aleman T S., et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 2003 12 1073-1078
66. Chong G T., Farsiu S, Freedman S F., et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol 2009 127 37-44
67. Gerth C, Zawadzki R J., Werner J S., et al. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). Doc Ophthalmol 2009 118 239-246
68. Fischer M D., Fleischhauer J C., Gillies M C., et al. A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography. Invest Ophthalmol Vis Sci 2008 49 3617-3621
69. Lim J I., Tan O, Fawzi A A., et al. A pilot study of Fourier-domain optical coherence tomography of retinal dystrophy patients. Am J Ophthalmol 2008 146 417-426
70. Jacobson S G., Cideciyan A V., Aleman T S., et al. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci 2007 48 332-338
71. Wabbels B, Preising M N., 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
72. Weber B HF, Stöhr H, Walker D. A case of nonpenetrance in Bests disease. Am J Ophthalmol 1994 118 398-399
73. Weber B H., Walker D, Muller B. Molecular evidence for non-penetrance in Best's disease. JMed Genet 1994 31 388-392
74. Renner A B., Tillack H, Kraus H, et al. Adaquate klinische Diagnostik der adulten vitelliformen Makuladystrophie. Ophthalmologe 2004 101 895-900
75. Ladewig M, Kraus H, Foerster M H., et al. Cone dysfunction in patients with late-onset cone dystrophy and age-related macular degeneration. Arch Ophthalmol 2003 121 1557-1561
76. Valverde D, Riveiro-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
77. Scholl H P., Chong N H., Robson A G., et al. Fundus autofluorescence in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci 2004 45 2747-2752
78. Kellner U, Wissinger B, Tippmann S, et al. Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol 2004 242 729-735
79. Ruther K, Janssen B P., Kellner U, et al. Klinische und molekulargenetische Befunde bei einer Patientin mit Fundus albipunctatus. Ophthalmologe 2004 101 177-185
80. Wycisk K A., Zeitz C, Feil S, et al. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet 2006 79 973-977
81. Kellner U, Helbig H, Foerster M H. Phanokopien hereditarer Netzhautdegenerationen. Ophthalmologe 1996 93 680-687
82. Seddon J M., Sharma S, Chong S, et al. Phenotype and genotype correlations in two best families. Ophthalmology 2003 110 1724-1731
83. Brunsmann F, Gizycki R von, Rybalko A, et al. Patientenselbsthilfe und seltene Erkrankungen: Mitgestaltung der Versorgungsrealität am Beispiel seltener Netzhautdegenerationen. Bundesgesundheitsbl Gesundheitsforsch Gesundheitsschutz 2007 50 1494-1501