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Select item 109372591.

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management

Malena Daich Varela, Giovanni Marco Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Viet Tran, Michel Michaelides

Ophthalmology. 2023 Dec; 130(12): 1327–1335. doi: 10.1016/j.ophtha.2023.07.027

PMCID:: PMC10937259

Abstract Article PDF–1.4M

Select item 108019702.

Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia

Temesgen Bedassa Gudeta, Tiruneh Asrat

BMC Pediatr. 2024; 24: 72. Published online 2024 Jan 22. doi: 10.1186/s12887-024-04529-0

PMCID:: PMC10801970

Abstract Article PDF–1.2M

Select item 106071663.

Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis

Hsi-Kung Kuo, Shih-Ting Tsao, Pei-Chang Wu

Int J Mol Sci. 2023 Oct; 24(20): 15247. Published online 2023 Oct 17. doi: 10.3390/ijms242015247

PMCID:: PMC10607166

Abstract Article PDF–794K

Select item 102985544.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia

Rebeca A. S. Amaral, Fabiana L. Motta, Olivia A. Zin, Mariana M. da Palma, Gabriela D. Rodrigues, Juliana M. F. Sallum

Genes (Basel) 2023 Jun; 14(6): 1296. Published online 2023 Jun 20. doi: 10.3390/genes14061296

PMCID:: PMC10298554

Abstract Article PDF–2.1M

Select item 102383965.

The causal mutation in ARR3 gene for high myopia and progressive color vision defect

Lei Gu, Peikuan Cong, Qingyao Ning, Bo Jiang, Jianyong Wang, Hongguang Cui

Sci Rep. 2023; 13: 8986. Published online 2023 Jun 2. doi: 10.1038/s41598-023-36141-0

PMCID:: PMC10238396

Abstract Article PDF–1.6M

Select item 99575376.

Clinical and Genetic Features of Korean Patients with Achromatopsia

Yong Je Choi, Kwangsic Joo, Hyun Taek Lim, Sung Soo Kim, Jinu Han, Se Joon Woo

Genes (Basel) 2023 Feb; 14(2): 519. Published online 2023 Feb 18. doi: 10.3390/genes14020519

PMCID:: PMC9957537

Abstract Article PDF–2.3M

Select item 96148657.

The limitation of standard pseudo-isochromatic plates in identifying colour vision deficiencies when compared with genetic testing

Solveig Arnegard, Rigmor C. Baraas, Jay Neitz, Lene A. Hagen, Maureen Neitz

Acta Ophthalmol. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Acta Ophthalmol. 2022 Nov; 100(7): 805–812. Published online 2022 Feb 3. doi: 10.1111/aos.15103

PMCID:: PMC9614865

Abstract Article PDF–632K

Select item 94260458.

Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy

Rajani Battu, Dhanashree Ratra, Lingam Gopal

Indian J Ophthalmol. 2022 Jul; 70(7): 2316–2325. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_82_22

PMCID:: PMC9426045

Abstract Article PDF–1.7M

Select item 93636769.

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

Magdalini Triantafylla, Eleni Papageorgiou, Mervyn G. Thomas, Rebecca McLean, Susanne Kohl, Viral Sheth, Zhanhan Tu, Frank A. Proudlock, Irene Gottlob

Invest Ophthalmol Vis Sci. 2022 Aug; 63(9): 6. Published online 2022 Aug 5. doi: 10.1167/iovs.63.9.6

PMCID:: PMC9363676

Abstract Article PDF–1.8M

Select item 934739110.

Gene Therapy in Opn1mw^−/−/Opn1sw^−/− Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations

Xiajie Ma, Emily R. Sechrest, Diego Fajardo, Ping Zhu, Frank Dyka, Yixiao Wang, Ekaterina Lobanova, Shannon E. Boye, Wolfgang Baehr, Wen-Tao Deng

Hum Gene Ther. July 2022; 33(13-14): 708–718. Published online 2022 Jul 13. doi: 10.1089/hum.2021.298

PMCID:: PMC9347391

Abstract Article PDF–1.3M

Select item 903312511.

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft, David J. Keegan

Genes (Basel) 2022 Apr; 13(4): 615. Published online 2022 Mar 29. doi: 10.3390/genes13040615

PMCID:: PMC9033125

Abstract Article PDF–620K

Select item 894245312.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

Samer Khateb, Aya Shemesh, Ashly Offenheim, Ruth Sheffer, Tamar Ben-Yosef, Itay Chowers, Rina Leibu, Britta Baumann, Bernd Wissinger, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2022; 28: 21–28. Published online 2022 Feb 22.

PMCID:: PMC8942453

Abstract Article PDF–1.8M

Select item 892901813.

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin

Curr Issues Mol Biol. 2021 Sep; 43(2): 941–957. Published online 2021 Aug 16. doi: 10.3390/cimb43020067

PMCID:: PMC8929018

Abstract Article PDF–3.8M

Select item 848863214.

ATF6 is essential for human cone photoreceptor development

Heike Kroeger, Julia M. D. Grandjean, Wei-Chieh Jerry Chiang, Daphne D. Bindels, Rebecca Mastey, Jennifer Okalova, Amanda Nguyen, Evan T. Powers, Jeffery W. Kelly, Neil J. Grimsey, Michel Michaelides, Joseph Carroll, R. Luke Wiseman, Jonathan H. Lin

Proc Natl Acad Sci U S A. 2021 Sep 28; 118(39): e2103196118. Published online 2021 Sep 24. doi: 10.1073/pnas.2103196118

PMCID:: PMC8488632

Abstract Article PDF–2.6M

Select item 847798715.

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

Hamzah Aweidah, Manar Salameh, Claudia Yahalom, Anat Blumenfeld, Michal Macarov, Nicole Weisschuh, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2021; 27: 588–600. Published online 2021 Sep 22.

PMCID:: PMC8477987

Abstract Article PDF–1.0M

Select item 834604416.

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei

Int J Mol Sci. 2021 Aug; 22(15): 7842. Published online 2021 Jul 22. doi: 10.3390/ijms22157842

PMCID:: PMC8346044

Abstract Article PDF–1.6M

Select item 829122117.

Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy

Jin Kyun Oh, Joseph Ryu, Jose Ronaldo Lima de Carvalho, Jr, Sarah R. Levi, Winston Lee, Emmanouil Tsamis, Vivienne C. Greenstein, Vinit B. Mahajan, Rando Allikmets, Stephen H. Tsang

Am J Ophthalmol. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Ophthalmol. 2020 Oct; 218: 40–53. Published online 2020 May 21. doi: 10.1016/j.ajo.2020.05.016

PMCID:: PMC8291221

Abstract Article PDF–1.8M

Select item 817457018.

Retinal Morphology of Patients With Achromatopsia During Early Childhood: Implications for Gene Therapy

Paul Yang, Keith V. Michaels, Robert J. Courtney, Yuquan Wen, Daniel A. Greninger, Leah Reznick, Daniel J. Karr, Lorri B. Wilson, Richard G. Weleber, Mark E. Pennesi

JAMA Ophthalmol. Author manuscript; available in PMC 2021 Jun 3.

Published in final edited form as: JAMA Ophthalmol. 2014 Jul; 132(7): 823–831. doi: 10.1001/jamaophthalmol.2014.685

PMCID:: PMC8174570

Abstract Article PDF–747K

Select item 793740419.

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa

Tommaso Verdina, Vivienne C. Greenstein, Stephen H. Tsang, Vittoria Murro, Dario Pasquale Mucciolo, Ilaria Passerini, Rodolfo Mastropasqua, Gian Maria Cavallini, Gianni Virgili, Fabrizio Giansanti, Andrea Sodi

Mol Vis. 2021; 27: 78–94. Published online 2021 Feb 5.

PMCID:: PMC7937404

Abstract Article PDF–2.7M

Select item 791454720.

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

Raffaella Brunetti-Pierri, Marianthi Karali, Paolo Melillo, Valentina Di Iorio, Antonella De Benedictis, Gennarfrancesco Iaccarino, Francesco Testa, Sandro Banfi, Francesca Simonelli

Int J Mol Sci. 2021 Feb; 22(4): 1681. Published online 2021 Feb 7. doi: 10.3390/ijms22041681