Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies

Authors: Li, Albert S., MacKay, Donna, Chen, Howard, Rajagopal, Rithwick, Apte, Rajendra S.

Source: Ophthalmology. 126(10):1466-1468

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088859068.0x000001&indx=1&recIds=ETOCvdc_100088859068.0x000001

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Authors: Halford, Stephanie, Liew, Gerald, Mackay, Donna S., Sergouniotis, Panagiotis I., Holt, Richard, Broadgate, Suzanne, Volpi, Emanuela V., Ocaka, Louise, Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R.

Source: In Ophthalmology June 2014 121(6):1174-1184

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Authors: Fujinami, Kaoru, Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Tsunoda, Kazushige, Tsubota, Kazuo, Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R.

Source: In Ophthalmology November 2013 120(11):2324-2331

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

Authors: Fujinami, Kaoru, Lois, Noemi, Davidson, Alice E., Mackay, Donna S., Hogg, Chris R., Stone, Edwin M., Tsunoda, Kazushige, Tsubota, Kazuo, Bunce, Catey, Robson, Anthony G., Moore, Anthony T., Webster, Andrew R., Holder, Graham E., Michaelides, Michel

Source: In American Journal of Ophthalmology June 2013 155(6):1075-1088

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis.

Authors: Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S.

Source: American Journal of Human Genetics; July 15 2011, Vol. 89 Issue 1, p183-190, 8p

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q.

Authors: Mackay, Donna S., Boskovska, Olivera B., Knopf, Harry L. S.

Source: American Journal of Human Genetics; November 2002, Vol. 71 Issue 5, p1216-1221, 6p

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

Authors: Pal, Jay D., Liu, Xiaoqin, Mackay, Donna

Source: American Journal of Physiology; September 2000 pt1, Vol. 279 Issue 3, pC596-C602, 7p

Focus on Molecules: Cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)

Authors: Mackay, Donna S., Halford, Stephanie

Source: In Experimental Eye Research September 2012 102:111-112

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.

Authors: Mackay, Donna S.¹, Bennett, Thomas M.¹, Shiels, Alan¹ shiels@vision.wustl.edu

Source: PLoS ONE. 7/10/2015, Vol. 10 Issue 7, p1-14. 14p.

Subject Terms: *GLAUCOMA, *NUCLEOTIDE sequencing, *ETIOLOGY of diseases, *RETINAL ganglion cells, *EPIDERMAL growth factor

Connexin46 mutations in autosomal dominant congenital cataract.

Authors: Mackay, Donna, Ionides, Alexander, Kibar, Zoha

Source: American Journal of Human Genetics; May 1999, Vol. 64 Issue 5, p1357-1364, 8p

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q.

Authors: Shiels, Alan, Mackay, Donna, Ionides, Alexander

Source: American Journal of Human Genetics; March 1998, Vol. 62 Issue 3, p526-532, 7p

Focus on Molecules: Centrosomal protein 290 (CEP290)

Authors: Moradi, Phillip, Davies, Wayne L., Mackay, Donna S., Cheetham, Michael E., Moore, Anthony T.

Source: In Experimental Eye Research May 2011 92(5):316-317

Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma.

Authors: Bennett, Thomas M.¹, Mackay, Donna S.¹, Siegfried, Carla J.¹, Shiels, Alan¹ shiels@vision.wustl.edu

Source: PLoS ONE. Aug2014, Vol. 9 Issue 8, p1-13. 13p.

Subject Terms: *GENETIC mutation, *ION channels, *GLAUCOMA, *VISION disorders, *CATARACT, *EXONS (Genetics)

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy.

Authors: Mei Hong Tan^1,2, Mackay, Donna S.¹, Jill Cowing¹, Tran, Hoai Viet^1,2, Smith, Alexander J.¹, Wright, Genevieve A.², Dev-Borman, Arundhati^1,2, Henderson, Robert H.^1,2, Moradi, Phillip^1,2, Russell-Eggitt, Isabelle³, MacLaren, Robert E.^2,4, Robson, Anthony G.^1,2, Cheetham, Michael E.¹, Thompson, Dorothy A.³, Webster, Andrew R.^1,2, Michaelides, Michel^1,2 michel.michaelides@ucl.ac.uk, Ali, Robin R.¹, Moore, Anthony T.^1,2 tony.moore@ucl.ac.uk

Source: PLoS ONE. Mar2012, Vol. 7 Issue 3, p1-10. 10p.

Subject Terms: *BLINDNESS, *GENE therapy, *RETINAL degeneration, *ETIOLOGY of diseases, *PHENOTYPES, *CHILDREN

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

Authors: Mackay, Donna S.¹, Andley, Usha P.^1,2, Shiels, Alan^1,3

Source: European Journal of Human Genetics. Oct2003, Vol. 11 Issue 10, p784. 10p.

Subject Terms: *CATARACT, *GENETIC mutation, *EPITHELIUM

Focus on molecules: Retinol dehydrogenase 12 (RDH12)

Authors: Moradi, Phillip, Mackay, Donna, Hunt, David M., Moore, Anthony T.

Source: In Experimental Eye Research 2008 87(3):160-161

A new locus for dominant “zonular pulverulent” cataract, on chromosome 13.

Authors: Mackay, Donna, Ionides, Alexander, Berry, Vanita

Source: American Journal of Human Genetics; June 1997, Vol. 60, p1474-1478, 5p

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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Authors: Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Lenassi, Eva, Li, Zheng, Robson, Anthony G., Yang, Xu, Kam, Jaimie Hoh, Isaacs, Timothy W., Holder, Graham E., Jeffery, Glen, Beck, Jonathan A., Moore, Anthony T., Plagnol, Vincent, Webster, Andrew R.

Source: In The American Journal of Human Genetics 9 December 2011 89(6):782-791

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Authors: Li, Zheng, Sergouniotis, Panagiotis I., Michaelides, Michel, Mackay, Donna S., Wright, Genevieve A., Devery, Sophie, Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Webster, Andrew R.

Source: In The American Journal of Human Genetics 13 November 2009 85(5):711-719