Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus von Mayer, Anja K, Mahajnah, Muhammad, Thomas, Mervyn G, Cohen, Yuval, Habib, Adib, Schulze, Martin, Maconachie, Gail D E, AlMoallem, Basamat, De Baere, Elfride, Lorenz, Birgit, Traboulsi, Elias I, Kohl, Susanne, Azem, Abdussalam, Bauer, Peter, Gottlob, Irene, Sharkia, Rajech, Wissinger, Bernd

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The Development of a Nystagmus-Specific Quality-of-Life Questionnaire von McLean, Rebecca J., PhD, Maconachie, Gail D.E., PhD, Gottlob, Irene, MD, Univ Doz, Maltby, John, PhD

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Discordant phenotypes in twins with infantile nystagmus von Aamir, Abdullah, Kuht, Helen J., McLean, Rebecca J., Maconachie, Gail D. E., Sheth, Viral, Dawar, Basu, Purohit, Ravi, Sylvius, Nicolas, Hisaund, Michael, Zubcov-Iwantscheff, Alina, Proudlock, Frank A., Gottlob, Irene, Thomas, Mervyn G.

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The Effects of Feedback on Adherence to Treatment: A Systematic Review and Meta-analysis of RCTs von Seewoodharry, Mansha D., MBChB, Maconachie, Gail D.E., PhD, Gillies, Clare L., PhD, Gottlob, Irene, MD UnivDoz, McLean, Rebecca J., PhD

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The challenges of amblyopia treatment von Maconachie, Gail D.E., Gottlob, Irene

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Diagnostic Potential of Iris Cross-sectional Imaging in Albinism Using Optical Coherence Tomography von Sheth, Viral, BMedSci, Gottlob, Irene, FRCOphth, MD, Mohammad, Sarim, BSc, McLean, Rebecca J., MSc, Maconachie, Gail D.E., BMedSci, Kumar, Anil, MRCOphth, Degg, Christopher, PhD, Proudlock, Frank A., MSc, PhD

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Current and emerging treatments for albinism von Liu, Siyin, Kuht, Helen J., Moon, Emily Haejoon, Maconachie, Gail D.E., Thomas, Mervyn G.

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Risk Factors and Genetics in Common Comitant Strabismus: A Systematic Review of the Literature von Maconachie, Gail D. E, Gottlob, Irene, McLean, Rebecca J

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Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing von Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study von Kuht, Helen J, Maconachie, Gail D E, Han, Jinu, Kessel, Line, van Genderen, Maria M, McLean, Rebecca J, Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W, Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae-Hwan, Tobin, Martin D, Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K, Heath Jeffery, Rachael C, Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P, Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C, Proudlock, Frank A, Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G

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SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization von Kuht, Helen J, Han, Jinu, Maconachie, Gail D E, Park, Sung Eun, Lee, Seung-Tae, McLean, Rebecca, Sheth, Viral, Hisaund, Michael, Dawar, Basu, Sylvius, Nicolas, Mahmood, Usman, Proudlock, Frank A, Gottlob, Irene, Lim, Hyun Taek, Thomas, Mervyn G

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Clinical utility gene card for FRMD7-related infantile nystagmus von Dawar, Basu, Kuht, Helen J, Han, Jinu, Maconachie, Gail D E, Thomas, Mervyn G

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In Vivo Morphology of the Optic Nerve and Retina in Patients With Parkinson's Disease von Pilat, Anastasia, McLean, Rebecca J, Proudlock, Frank A, Maconachie, Gail D E, Sheth, Viral, Rajabally, Yusuf A, Gottlob, Irene

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Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans von Kuht, Helen J., McLean, Rebecca J., Aamir, Abdullah, Maconachie, Gail D.E., Gottlob, Irene, Thomas, Mervyn G.

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Recurrent Rare Copy Number Variants Increase Risk for Esotropia von Whitman, Mary C, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Gelber, Alon, Pratt, Brandon M, Bell, Jessica L, Collins, Thomas E, Knowles, James A, Armoskus, Christopher, Pato, Michele, Pato, Carlos, Shaaban, Sherin, Staffieri, Sandra, MacKinnon, Sarah, Maconachie, Gail D E, Elder, James E, Traboulsi, Elias I, Gottlob, Irene, Mackey, David A, Hunter, David G, Engle, Elizabeth C

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Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant von Thomas, Mervyn G, Maconachie, Gail D E, Constantinescu, Cris S, Chan, Wai-Man, Barry, Brenda, Hisaund, Michael, Sheth, Viral, Kuht, Helen J, Dineen, Rob A, Harieaswar, Sreemathi, Engle, Elizabeth C, Gottlob, Irene

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Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles von Thomas, Mervyn G, Maconachie, Gail D E, Kuht, Helen J, Chan, Wai-Man, Sheth, Viral, Hisaund, Michael, McLean, Rebecca J, Barry, Brenda, Al-Diri, Bashir, Proudlock, Frank A, Tu, Zhanhan, Engle, Elizabeth C, Gottlob, Irene

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Ocular Manifestations of PNPT1-Related Neuropathy von Kuht, Helen J., Thomas, Kevin A., Hisaund, Michael, Maconachie, Gail D. E., Thomas, Mervyn G.

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia von Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae-Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G.

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study von Kuht, Helen J, Maconachie, Gail D.E, Han, Jinu, Kessel, Line, van Genderen, Maria M, McLean, Rebecca J, Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W, Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D, Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K, Heath Jeffery, Rachael C, Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P, Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C, Proudlock, Frank A, Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G

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