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Original Articles

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

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Pages 324-330 | Received 01 Oct 2013, Accepted 25 Feb 2016, Published online: 23 Aug 2016

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Cecilia Fahnehjelm, Eva Dafgård Kopp, Josephine Wincent, Evin Güven, Mattias Nilsson, Monica Olsson & Kristina Teär Fahnehjelm. (2022) Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life. Ophthalmic Genetics 43:2, pages 172-183.
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Arpita Nayak, Tarjani Vivek Dave, Mohammad Javed Ali & Arundhati Tiwari. (2020) Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex. Orbit 39:3, pages 155-159.
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Milena Atique Tacla, Matheus de Mello Copelli, Eleonore Pairet, Isabella Lopes Monlleó, Erlane Marques Ribeiro, Elaine Lustosa Mendes, Raphaël Helaers, Tarsis Paiva Vieira, Miikka Vikkula & Vera Lúcia Gil-da-Silva-Lopes. (2023) Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. European Journal of Human Genetics.
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Lan Ma, Yang Li, Hanqiao Zhang, Liang Li, Guangda Deng, Jie Xu & Dongmei Li. (2023) Abnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients. Journal of American Association for Pediatric Ophthalmology and Strabismus 27:1, pages 34.e1-34.e4.
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Stefanie Frech, Markus Schulze Schwering, Michael P. Schittkowski & Rudolf F. Guthoff. (2022) Clinical Congenital Anophthalmos and Microphthalmos—Experiences of Patients and Their Parents after More than 10 Years of Treatment. Children 10:1, pages 34.
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Hind M. Alkatan, Khalid M. Bedaiwi, Yasser H. Al-Faky & Azza M. Y. Maktabi. (2022) Demographics and histopathological characteristics of enucleated microphthalmic globes. Scientific Reports 12:1.
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Sepideh Gholami Yarahmadi, Fatemeh Sarlaki & Saeid Morovvati. (2022) Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia. Clinical Case Reports 10:3.
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Shailja Tibrewal, Ketaki Subhedar, Pradnya Sen, Amit Mohan, Shivanand Singh, Chintan Shah, Ken K Nischal & Suma Ganesh. (2021) Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India. British Journal of Ophthalmology 105:7, pages 897-903.
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Nusrat Changal & Rajiv B Khandekar. (2021) Eye Conformers as Socket Expanders in Children: Experience at a Tertiary Eye Hospital in Central Saudi Arabia. Cureus.
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Anna Wawrocka, Joanna Walczak‐Sztulpa, Marta Pawlak, Anna Gotz‐Wieckowska & Maciej R. Krawczynski. (2020) Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner . American Journal of Medical Genetics Part A 185:1, pages 250-255.
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Inês Q. Saraiva & Esmeralda Delgado. (2020) Congenital ocular malformations in dogs and cats: 123 cases. Veterinary Ophthalmology 23:6, pages 964-978.
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Annabel L.W. Groot, Maayke M.P. Kuijten, Jelmer Remmers, Asra Gilani, Daphne L. Mourits, Elke Kraal‐Biezen, Pim Graaf, Petra J. Zwijnenburg, Annette C. Moll, Stevie Tan, Peerooz Saeed & Dyonne T. Hartong. (2020) Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics. Acta Ophthalmologica 98:5, pages 514-520.
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Ozlem Ural, Mehmet C. Mocan & Ugur Erdener. (2020) Evaluation of All Causes of Visual Function Loss in Children With Congenital Blepharoptosis. Journal of Pediatric Ophthalmology & Strabismus 57:2, pages 97-102.
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M. Manotas, K. Sarmiento, A. Ibañez-Morantes, F. Suárez-Obando, N. Gelvez, G. López, P. Ayala-Ramírez, J. Angel, J. Prieto, N. Tamayo, S. Puentes, C. Rodríguez, M.L. Tamayo & I. Zarante. (2019) Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016. International Journal of Pediatric Otorhinolaryngology 126, pages 109594.
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J. Plaisancié, F. Ceroni, R. Holt, C. Zazo Seco, P. Calvas, N. Chassaing & Nicola K. Ragge. (2019) Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Human Genetics 138:8-9, pages 799-830.
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A. Searle, P. Shetty, S. J. Melov & T. I. Alahakoon. (2018) Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports. Journal of Medical Case Reports 12:1.
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Tiffany M. Chambers, A. J. Agopian, Richard A. Lewis, Peter H. Langlois, Heather E. Danysh, Kari A. Weber, Gary M. Shaw, Laura E. Mitchell & Philip J. Lupo. (2018) Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009. American Journal of Medical Genetics Part A 176:9, pages 1810-1818.
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Annegret Dahlmann-Noor, Vijay Tailor, Yassir Abou-Rayyah, Gillian Adams, John Brookes, Peng T. Khaw, Catey Bunce & Maria Papadopoulos. (2018) Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma—a cross-sectional study. Journal of American Association for Pediatric Ophthalmology and Strabismus 22:4, pages 281-285.e1.
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J. Plaisancié, N.K. Ragge, H. Dollfus, J. Kaplan, D. Lehalle, C. Francannet, G. Morin, H. Colineaux, P. Calvas & N. Chassaing. (2018) FOXE3 mutations: genotype-phenotype correlations . Clinical Genetics 93:4, pages 837-845.
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