Psychological aspects rehabilitation of patients with anophthalmia by E. N. Verigo, R. A. Gundorova, I. A. Pryachina

“…This work deals with the psychological rehabilitation of patients with anophthalmia having eye protesis as the main role on the problem. …”
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The fate of the oculomotor system in clinical bilateral anophthalmia. by Bridge, H, Ragge, N, Jenkinson, N, Cowey, A, Watkins, K

“…The occurrence of clinical anophthalmia, where the globe fails to develop, permits us to study the effects this has on the development of the complex neuromuscular system controlling eye movements. …”

Ultrasonographic Findings of Unilateral Clinical Anophthalmia in a Puppy by Reza Azargoun, Seyed Mohammad Hashemi-Asl, Siamak Asri-Rezaei

“…Anophthalmia refers to the most severe ocular congenital malformation that results from inadequate development of the primitive forebrain and is always associated with blindness. …”
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P767: Genetics of prenatally diagnosed micro/anophthalmia by Natalie Burrill, Julie Moldenhauer, Erica Schindewolf, Renee Wright, Lisa Pilchman, Haley Crane, Edward Oliver, Nahla Khalek, Juliana Gebb, Christina Paidas Teefey, Shelly Soni

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Parent-of-origin effects in SOX2 anophthalmia syndrome. by Osborne, R, Kurinczuk, J, Ragge, N

“… PURPOSE: Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. …”

The effect of congenital and acquired bilateral anophthalmia on brain structure by Bridge, H, Coullon, GSL, Morjaria, R, Trossman, R, Warnaby, C, Leatherbarrow, B, Foster, R, Downes, S

“…The aim of this study was to compare the pattern of changes in brain structure resulting from congenital and acquired bilateral anophthalmia. Brain structure was investigated using 3T magnetic resonance imaging (MRI) in Oxford (congenital) or Manchester (acquired). …”

Language networks in anophthalmia: Maintained hierarchy of processing in 'visual' cortex by Watkins, K, Cowey, A, Alexander, I, Filippini, N, Kennedy, J, Smith, S, Ragge, N, Bridge, H

“…In contrast, the interhemispheric correlation of resting activity in extrastriate areas was reduced in anophthalmia to the level of cortical areas that are heteromodal, such as the inferior frontal gyrus. …”

Language networks in anophthalmia: maintained hierarchy of processing in 'visual' cortex. by Watkins, K, Cowey, A, Alexander, I, Filippini, N, Kennedy, J, Smith, S, Ragge, N, Bridge, H

“…In contrast, the interhemispheric correlation of resting activity in extrastriate areas was reduced in anophthalmia to the level of cortical areas that are heteromodal, such as the inferior frontal gyrus. …”

A 12 Week Fetus with Anophthalmia, Limb Anomalies and Infratemporal Teratoma by Lu Y, Zhao JJ, He P

“…Yu Lu,1 Jing-Jing Zhao,2 Ping He1 1Department of Ultrasonography, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, 200092, People’s Republic of China; 2Department of Pathology, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, 200092, People’s Republic of ChinaCorrespondence: Ping He, Department of Ultrasonography, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, No. 2699 Gaoke West Road, Pudong District, Shanghai, 201204, People’s Republic of China, Tel +86-2120261000, Email hepinghmp0@126.comBackground: Microphthalmia is a rare autosomal recessive condition commonly known as Waardenburg anophthalmia syndrome (WAS) or oculo-acromal formation syndrome (MIM#206920).Case Description: Here, we report the case of a woman whose fetal ultrasonography at 12 weeks of pregnancy revealed multiple fetal abnormalities. …”
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Congenital bilateral clinical anophthalmia and brachygnathia superior in a fighting bull calf by Juan Seva, José Manuel Sanes, Juan Manuel Bueno, Carlos De Jódar, Marta Soler, Alejandro Bayón, Ester Párraga‐Ros

Subjects: “…anophthalmia…”
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Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex. by Bridge, H, Cowey, A, Ragge, N, Watkins, K

Enlargement of the Eye Socket Early after Birth with an Ocular Prosthesis for Clinical Congenital Anophthalmia by Ken Yamashita, Takatoshi Yotsuyanagi, Yusuke Hamamoto, Ayako Gonda, Arisa Kita, Ayaka Kitada

Subjects: “…clinical congenital anophthalmia…”
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Structural and functional brain reorganisation due to blindness: The special case of bilateral congenital anophthalmia by Bridge, H, Watkins, KE

“…Finally, we lay out a model pathway for taking auditory information to the occipital cortex that may be specific to anophthalmia.…”

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients by Rabia Basharat, Kim Rodenburg, María Rodríguez-Hidalgo, Afeefa Jarral, Ehsan Ullah, Jordi Corominas, Christian Gilissen, Syeda Tatheer Zehra, Usman Hameed, Muhammad Ansar, Suzanne E. de Bruijn

Subjects: “…anophthalmia…”
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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma by Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk

“…We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular coloboma, with no apparent coding-region disease-causing mutation. …”
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Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study by Dharmasena, A, Keenan, T, Goldacre, R, Hall, N, Goldacre, M

“… <h4>Aims</h4> <p>To study trends over time in the incidence of congenital anophthalmia, microphthalmia, and orbital malformations in England, along with changes in hospital admission rates for these conditions.…”

Language and nonverbal auditory processing in the occipital cortex of individuals who are congenitally blind due to anophthalmia by Watkins, KE, Coullon, GSL, Bridge, H

“…Individuals with congenital blindness due to bilateral anophthalmia offer a unique opportunity to examine cross-modal plasticity in the complete absence of any stimulation of the ‘visual’ pathway even during development in utero. …”

Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog by Mariana Isa Poci Palumbo, Jorge Piovesan Conti, Danuta Pulz Doiche, Maria Jaqueline Mamprim, Maria Lúcia Gomes Lourenço, Luiz Henrique de Araújo Machado

“…This paper describes for the first time in Brazil the occurrence of bilateral clinical anophthalmia associated to congenital hydrocephalus in a dog.…”
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Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report by Pooneh Nikuei, Ph.D., Zahra Khashavy, Mohammad Ali Farazi Fard, Shahrzad Tabasi4 Pharm.D. Student, Ari Zeidi5 B.Sc. Student, Parnian Pourkashani, Zahra Tabatabaei, Ebrahim Eftekhar, Mozhgan Saberi, Frouzandeh Mahjoubi

Subjects: “…anophthalmos, sox2 anophthalmia syndrome, mosaicism.…”
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Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of <i>bmp4</i>, Oversaturating BMP Antagonists in Zebrafish by Johannes Bulk, Valentyn Kyrychenko, Philipp M. Rensinghoff, Zahra Ghaderi Ardekani, Stephan Heermann

“…The typical ocular finding associated with intense forms of HPE is cyclopia. However, also anophthalmia and coloboma can be associated with HPE. …”
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