Macular dystrophies - Hereditary macular degenerations: A differential diagnosis review;Makuladystrophien - Erbliche Makuladegenerationen: Eine differenzialdiagnostische Übersicht

Klinische Monatsblatter fur Augenheilkunde

Volumn 227, Issue 1, 2010, Pages

  Walter, Peter ^a   Mazinani, B ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DIFFERENTIAL DIAGNOSIS; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; REVIEW; ANGIOID STREAK; BLINDNESS; CHOROID DISEASE; DOMINANT GENE; DRUSEN; ELECTRORETINOGRAPHY; FLUORESCENCE ANGIOGRAPHY; GENETIC SCREENING; GENETICS; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PENETRANCE; PHENOTYPE; PHOTORECEPTOR CELL; RECESSIVE GENE; RETINA DISEASE; RETINOSCOPY; VISION TEST;

ANGIOID STREAKS; BLINDNESS; CHOROID DISEASES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; GENES, RECESSIVE; GENETIC TESTING; HUMANS; MACULAR DEGENERATION; PEDIGREE; PENETRANCE; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; RETINAL DISEASES; RETINAL DRUSEN; RETINOSCOPY; VISION SCREENING;

EID: 78649437912     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0029-1240764     Document Type: Review

References (30)

1. 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
2. Blair C J. Geographic atrophy of the retinal pigment epithelium: a manifestation of senile macular degeneration. Arch Ophthalmol 1975 93 19
3. Boon C J., Klevering B J., Cremers F P. et al. Central areolar choroidal dystrophy. Ophthalmology 2009 116 771-782
4. 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
5. Hamel C P. et al. Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity. Am J Opthalmol 2009 147 609-620
6. Hoyng C B., Deutman A F. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol 1996 234 87-93
7. Carr R E. Central areolar choroidal dystrophy. Arch Ophthalmol 1965 73 32-35
8. Chisholm I H., Gass J D., Hutton W L. The late stage of serpiginous (geographic) choroiditis. Am J Ophthalmol 1976 82 343-351
9. Noble K G., Carr R E. Peripapillary pigmentary retinal degeneration. Am J Ophthalmol 1978 86 65
10. Mansour A M., Uwaydat S H., Chan C C. Long-term follow-up in Bietti crystalline dystrophy. Eur J Ophthalmol 2007 17 680-682
11. Li A, Jiao X, Munier F L. et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004 74 817-826
12. Edwards A O., Klein M L., Blair Berselli C et al. Malattia leventinese: Refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. Am J Ophthalmol 1998 126 417-424
13. Borooah S, Collins C, Wright A et al. Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration. Br J Ophthalmol 2009 93 284-289
14. Finger R P., Charbel Issa P, Ladewig M S. et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol 2009 54 272-285
15. Georgalas I, Papaconstantinou D, Koutsandrea C et al. Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag 2009 5 81-89
16. Jacobson S G., Cideciyan A V., Bennett J et al. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol 2002 120 376-379
17. Li Y J., Guggenheim J A., Bulusu A et al. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci 2009 50 3116-3127
18. Grossniklaus H E., Green W R. Pathologic findings in pathologic myopia. Retina 1992 12 127-133
19. Marquardt A, St?hr 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
20. Mohler C W., Fine S L. Long-term evaluation of patients with Bests vitelliform dystrophy. Ophthalmology 1981 88 688-692
21. Kr?mer F, White K, Pauleikhoff D et al. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Gen 2000 8 286-292
22. Zhuk S A., Edwards A O. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. Mol Vis 2006 12 811-815
23. Marmor M F., Byers B. Pattern dystrophy of the pigment epithelium. Am J Ophthalmol 1977 84 32-44
24. Nichols B E., Sheffield V C., Vandenburgh K et al. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993 3 202-207
25. Klevering B J. Retinal dystrophies caused by mutations in the ABCA4 gene. Proefschrift. Radboud Universiteit Nijemgen 2004
26. Klevering B J., Maugeri A, Wagner A et al. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Ophthalmology 2004 111 546-553
27. Daiger S P., Bowne S J., Sullivan L S. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007 125 151-158
28. Scholl H P. N. Photoreceptor type specific electroretinography in inherited retinal disorders. Norderstedt Books on demand 2004
29. Kellner U. Die progressiven Zapfendystrophien. Stuttgart Ferdinand Enke Verlag 1996
30. Desnick R J., Kaback M M., Hrsg. Tay Sachs Disease. London, San Diego Academic Press 2001