Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Authors: Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A. ^{1, 2, 3, 4}, Barry, Brenda J. ^{2, 5}, Chan, Wai-Man ^{1, 2, 3, 4, 5}, MacKinnon, Sarah ^{6, 7}, Whitman, Mary C. ^{1, 6, 7}, Matos Ruiz, Paola M. ², Pratt, Brandon M. ², England, Eleina M. ^{8, 9}, Pais, Lynn ^{8, 9}, Lemire, Gabrielle ^{8, 9}, Groopman, Emily ^{8, 9}, Glaze, Carmen ⁸, Russell, Kathryn A. ⁸, Singer-Berk, Moriel ⁸, Di Gioia, Silvio Alessandro ^{1, 2, 3, 4, 10}, Lee, Arthur S. ^{1, 2, 3, 4}, Andrews, Caroline ², Shaaban, Sherin ^{1, 2, 3, 11}, Wirth, Megan M. ², Bekele, Sarah ², Toffoloni, Melissa ², Bradford, Victoria R. ², Foster, Emma E. ², Berube, Lindsay ², Rivera-Quiles, Cristina ², Mensching, Fiona M. ², Sanchis-Juan, Alba ^{8, 12}, Fu, Jack M. ^{8, 12}, Wong, Isaac ^{8, 12}, Zhao, Xuefang ^{8, 12}, Wilson, Michael W. ⁸, Weisburd, Ben ⁸, Lek, Monkol ⁸, Brand, Harrison ^{8, 12, 13}, Talkowski, Michael E. ^{3, 8, 12}, MacArthur, Daniel G. ⁸, O’Donnell-Luria, Anne ^{8, 9, 12}, Robson, Caroline D. ^{14, 15}, Hunter, David G. ^{6, 7}, Engle, Elizabeth C. ^{1, 2, 3, 4, 5, 6, 7, 9, ∗}

Source: In Genetics in Medicine April 2025 27(4)

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population

Authors: Bernhardt, Isaac, Frajman, Leah E., Ryder, Bryony, Andersen, Erik, Wilson, Callum, McKeown, Colina, Anderson, Tim, Coman, David, Vincent, Andrea L., Buchanan, Christina, Roxburgh, Richard, Pitt, James, De Hora, Mark, Christodoulou, John, Thorburn, David R., Wilson, Francessa, Drake, Kylie M., Leask, Megan, Yardley, Anne-Marie, Merriman, Tony, Robertson, Stephen, Compton, Alison G., Glamuzina, Emma

Source: In Molecular Genetics and Metabolism July 2024 142(3)

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Authors: Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Jul 01. 119(27), 1-10.

Access URL: https://www.jstor.org/stable/27153050

Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Authors: Liskova, Petra, Skalicka, Pavlina, Dudakova, Lubica, Vincent, Andrea L.

Source: Clinical & Experimental Ophthalmology; Apr2025, Vol. 53 Issue 3, p232-245, 14p

Subject Terms: CORNEAL dystrophies, MOLECULAR genetics, GENETIC correlations, GENETIC disorders, INDIVIDUALIZED medicine, CORNEAL opacity, THERAPEUTICS, GENETIC mutation

Intereye Symmetry in Bietti Crystalline Dystrophy

Authors: Liu, Zhengyang, Ayton, Lauren N., O'Hare, Fleur, Arslan, Janan, Hu, Monica L., Noar, Alexander P., Wang, Jiang-Hui, Hickey, Doron G., McGuinness, Myra B., Vincent, Andrea L., Chen, Fred K., Edwards, Thomas L.

Source: In American Journal of Ophthalmology March 2022 235:313-325

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Authors: Knight, Lachlan S.W., Ruddle, Jonathan B., Taranath, Deepa A., Goldberg, Ivan, Smith, James E.H., Gole, Glen, Chiang, Mark Y., Willett, Faren, D’Mellow, Guy, Breen, James, Qassim, Ayub, Mullany, Sean, Elder, James E., Vincent, Andrea L., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Luu, Susie, Siggs, Owen M., Souzeau, Emmanuelle, Craig, Jamie E.

Source: In Ophthalmology November 2021 128(11):1549-1560

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Authors: Khan, Mubeen, Cornelis, Stéphanie S., De Pozo-Valero, Marta l, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J.F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C.W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, De Roach, John N., Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H.F., Dhaenens, Claire‐Marie, Cremers, Frans P.M.

Source: In Genetics in Medicine July 2020 22(7):1235-1246

Optic neuropathy from hypovitaminosis A in a series of children with severe dietary restrictions.

Authors: Shi, Jane, Caldwell, James, Sheck, Leo, Tsang, Bobby, Alekzander, Rebecca, Escardo‐Paton, Julia, Vincent, Andrea L, Spooner, Claire, Heppner, Peter, Danesh‐Meyer, Helen, Hull, Sarah

Source: Journal of Paediatrics & Child Health; Oct2024, Vol. 60 Issue 10, p516-525, 10p

Subject Terms: VITAMIN A, DEFICIENCY diseases, VITAMIN B12, AUTISM spectrum disorders

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

Authors: Oliver, Verity F., van Bysterveldt, Katherine A., Cadzow, Murray, Steger, Bernhard, Romano, Vito, Markie, David, Hewitt, Alex W., Mackey, David A., Willoughby, Colin E., Sherwin, Trevor, Crosier, Philip S., McGhee, Charles N., Vincent, Andrea L.

Source: In Ophthalmology April 2016 123(4):709-722

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Authors: Missen, Sarah, Wilson, Callum, Potter, Howard, Vincent, Andrea L., Murphy, Rinki, Roxburgh, Richard, Rodrigues, Miriam, Poke, Gemma, Robertson, Stephen P., Thorburn, David R., Glamuzina, Emma

Source: Internal Medicine Journal; Mar2024, Vol. 54 Issue 3, p388-397, 10p

Subject Terms: GENOMICS, DESCRIPTIVE statistics, CELLULAR signal transduction, MITOCHONDRIAL pathology, GENETIC mutation, DATA analysis software, CONFIDENCE intervals, HEALTH education, MOLECULAR diagnosis, PHENOTYPES

Geographic Terms: NEW Zealand

Senior-Løken syndrome and intracranial hypertension.

Authors: Tay, Su Ann^1,2,3 (AUTHOR), Vincent, Andrea L.^1,2 (AUTHOR) a.vincent@auckland.ac.nz

Source: Ophthalmic Genetics. Aug2020, Vol. 41 Issue 4, p354-357. 4p.

Subject Terms: *INTRACRANIAL hypertension, *CEREBROSPINAL fluid examination, *FUNDUS oculi, *SYNDROMES, *CENTRAL nervous system, *RETINAL degeneration, *NEMALINE myopathy

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.

Authors: Britten‐Jones, Alexis Ceecee, Mack, Heather G., Vincent, Andrea L., Hill, Lisa J., Edwards, Thomas L., Ayton, Lauren N.

Source: Clinical Genetics; Jan2024, Vol. 105 Issue 1, p34-43, 10p

Subject Terms: GENETIC testing, RETINAL diseases, GENE therapy, MACULAR degeneration, OPTOMETRISTS, RETROLENTAL fibroplasia

Geographic Terms: NEW Zealand, AUSTRALIA

Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT

Authors: Heath Jeffery, Rachael C., Lo, Johnny, Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., De Roach, John N., Ayton, Lauren N., Vincent, Andrea L., Sharma, Abhishek, Chen, Fred K.

Source: Ophthalmology Retina; February 2024, Vol. 8 Issue: 2 p174-183, 10p

Use of public sector diabetes eye services in New Zealand 2006–2019: Analysis of national routinely collected datasets.

Authors: Silwal, Pushkar Raj, Lee, Arier C., Squirrell, David, Zhao, Jinfeng, Harwood, Matire, Vincent, Andrea L., Murphy, Rinki, Ameratunga, Shanthi, Ramke, Jacqueline

Source: PLoS ONE; 5/18/2023, Vol. 18 Issue 5, p1-15, 15p

Subject Terms: PUBLIC sector, EYE care, MEDICAL screening, DIABETES, AGE groups, MOSAIC viruses

Geographic Terms: NEW Zealand, WEST Coast (N.Z.)

Genotypic and phenotypic characterisation of RP2‐ and RPGR‐associated X‐linked inherited retinal dystrophy, including female manifestations.

Authors: Kuruvilla, Shilpa E., Song, Eileen, Raoof, Naz, van Bysterveldt, Katherine, Oliver, Verity F., Hong, Sheng Chiong, Al‐Taie, Rasha, Wilson, Graham, Vincent, Andrea L.

Source: Clinical & Experimental Ophthalmology; May2023, Vol. 51 Issue 4, p300-312, 13p

Subject Terms: RETINAL degeneration, GENOTYPES, PHENOTYPES, GENE therapy, FEMALES, KERATOCONUS

Geographic Terms: NEW Zealand

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Authors: Vincent, Andrea L^1,2 a.vincent@auckland.ac.nz, Abeysekera, Nandoun¹, Bysterveldt, Katherine A¹, Oliver, Verity F¹, Ellingford, Jamie M³, Barton, Stephanie³, Black, Graeme CM³

Source: Clinical & Experimental Ophthalmology. Dec2017, Vol. 45 Issue 9, p901-910. 10p.

Subject Terms: *RETINAL degeneration, *POLYNESIANS, *NUCLEOTIDE sequencing, *GENETIC mutation, *GENETIC testing, *GENOTYPES

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.

Authors: Loveridge-Easther, Cam, Kiray, Gulunay, Hull, Sarah, Vincent, Andrea L.

Source: Ophthalmic Genetics; Oct2022, Vol. 43 Issue 5, p685-688, 4p

Subject Terms: CYTOMEGALOVIRUS diseases, CONGENITAL disorders, SENSORINEURAL hearing loss, SYNDROMES, GENETIC testing, VISION disorders

Novel disease‐causing variants and phenotypic features of X‐linked megalocornea.

Authors: Dudakova, Lubica, Tuft, Stephen, Cheong, Sek‐Shir, Skalicka, Pavlina, Jedlickova, Jana, Fichtl, Marek, Hlozanek, Martin, Filous, Ales, Vaneckova, Manuela, Vincent, Andrea L., Hardcastle, Alison J., Davidson, Alice E., Liskova, Petra

Source: Acta Ophthalmologica (1755375X); Jun2022, Vol. 100 Issue 4, p431-439, 9p

Subject Terms: KERATOCONUS, ARACHNOID cysts, OPEN-angle glaucoma, MAGNETIC resonance imaging, BRAIN abnormalities, PHENOTYPES

Geographic Terms: NEW Zealand

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Authors: Vincent, Andrea L., Gillingsley, Gail, Buys, Yvonne

Source: American Journal of Human Genetics; February 2002, Vol. 70 Issue 2, p448-460, 13p

Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.

Authors: Raoof, Naz^1,2, Vincent, Andrea L^1,2

Source: Clinical & Experimental Ophthalmology. May2017, Vol. 45 Issue 4, p421-424. 4p.

Subject Terms: *OPTICAL coherence tomography, *TISSUE wounds, *RETINA abnormalities, *NIGHT blindness, *GENETICS