Makuladystrophien – erbliche Makuladegenerationen

Lernziele

Dieser Artikel soll dem Leser Hinweise geben, um aufgrund klinischer Untersuchungsergebnisse erbliche Makuladegenerationen zu erkennen, voneinander abzugrenzen und sie v. a. auch von erworbenen Makulaerkrankungen zu unterscheiden. Die korrekte Diagnose ist die Basis für eine adäquate Beratung des Patienten und seiner Familie hinsichtlich Prognose, therapeutischer Möglichkeiten und der Vermeidung überflüssiger Therapien.

Literatur

• 1 Maugeri A, Flothmann K, Hemmrich N et al. The ABCA4 2588 G>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, Stöhr 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 Krämer 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