Late-onset dominant retinal degenerations

SUMMARY

TIMP3-associated Sorsby fundus dystrophy, C1QTNF5-associated late-onset retinal degeneration (L-ORD) and other autosomal dominant late-onset conditions

 

10 PUBLICATIONS ON LATE-ONSET DYSTROPHIES

184. Stanton CM, Borooah S, Drake C, Marsh JA, Campbell S, Lennon A, Soares DC, Vallabh NA, Sahni J, CIDECIYAN AV, Dhillon B, Vitart V, Jacobson SG, Wright AF, Hayward C. Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. Scientific Reports 7, 12147, 2017. [PubMed]

139. Jacobson SG, CIDECIYAN AV, Sumaroka A, Roman AJ, Wright AF. Late-onset retinal degeneration caused by C1QTNF5 mutation: Sub-retinal pigment epithelium deposits and visual consequences. JAMA Ophthalmology 132:1252-1255, 2014. [PubMed]

79. Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, CIDECIYAN AV, Jacobson SG, Wright AF. Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. Advances in Experimental  Medicine and Biology 572:41-8, 2006. [PubMed]

58. Hayward C, Shu X, CIDECIYAN AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration – a genetic model for age-related macular degeneration. Human Molecular Genetics 12:2657-2667, 2003. [PubMed]

48. Jacobson SG, CIDECIYAN AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Archives of Ophthalmology 120:376-379, 2002. [PubMed]

45. Jacobson SG, CIDECIYAN AV, Wright E, Wright AF. Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. Investigative Ophthalmology & Visual Science 42:1882-1890, 2001. [PubMed]

40. Milam AH, Curcio CA, CIDECIYAN AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG. Dominant late-onset retinal degeneration with regional variation of sub-RPE deposits, retinal function and photoreceptor degeneration. Ophthalmology 107:2256-2266, 2000. [PubMed]

20. CIDECIYAN AV, Lamb TD, Pugh EN Jr, Huang Y, Jacobson SG. Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. Investigative Ophthalmology & Visual Science, 38:1786-1794, 1997. [PubMed]

17. Kuntz CA, Jacobson SG, CIDECIYAN AV, Li Z-Y, Stone EM, Possin D, Milam AH. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Investigative Ophthalmology & Visual Science, 37:1772-1782, 1996. [PubMed]

12. Jacobson SG, CIDECIYAN AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC and Stone EM. Night blindness in a TIMP3-associated Sorsby's fundus dystrophy is reversed by vitamin A. Nature Genetics 11:27-32, 1995. [PubMed]


Last updated September, 24, 2017