Results 61 to 70 of about 8,209 (195)

Optic disc evaluation – A window to diagnose systemic disorder

Indian Journal of Ophthalmology. Case Reports
Papillorenal syndrome (PRS) is a genetic disorder which affects the development of optic nerve and kidneys. Here, we discuss the case of a 5-year-old boy with chronic kidney disease who also had characteristic optic disc changes.
Jyoti Matalia, L M Darshini
doaj   +1 more source

Structural retinal changes and visual field loss across timing of damage in children with cerebral visual impairment

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate structural changes in the retina and optic nerve head (ONH) of children with cerebral visual impairment (CVI) across different timing of damage (TOD), and to relate these structural changes to visual field (VF) loss severity and pattern.
Jannet Philip, Frouke Nienke Boonstra, Nomdo M. Jansonius   +2 more
wiley   +1 more source

Early Visual Development in Albinism

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Visual system development is incomplete at birth, and while fixation and tracking usually emerge within the first weeks of life, some infants show delayed visual development (DVDev). This is frequently observed in infants with albinism, yet the timing of visual attentiveness and subsequent visual acuity development remains unclear ...
Catelijne Maria Neijzen, Ymkje Marije Hettinga, Herman Eduard Talsma, Charlotte Corinne Kruijt, Joke Helena de Boer, Gerard Cornelis de Wit, Maria Michielde van Genderen   +6 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

A case of superior segmental optic hypoplasia accompanied by a glaucomatous optic neuropathy

Clinical Ophthalmology, 2008
Ikuyo Ohguro, Hiroshi OhguroDepartment of Ophthalmology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, JapanAbstract: This is the first case report of a bilateral superior segmental optic hypoplasia (SSOH) accompanied by a ...
Ikuyo Ohguro, Hiroshi Ohguro
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Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report

Radiology Case Reports
Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction.
Sara Essetti, Chaymae Faraj, Fatima Chait, Sara Ez-Zaky, Nazik Allali, Siham El Haddad, Latifa Chat   +6 more
doaj   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

Disease Models & Mechanisms, 2017
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision.
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B. Gould   +3 more
doaj   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

Optic nerve head analysis of superior segmental optic hypoplasia using Heidelberg retina tomography

Clinical Ophthalmology, 2010
Atsushi Miki1,2, Motohiro Shirakashi1, Kiyoshi Yaoeda1, Atsushi Fukushima1, Mineo Takagi1, Haruki Abe11Division of Ophthalmology and Visual Sciences, Niigata University Graduate School of Medical and Dental Sciences, Niigata, 2Department of Ophthalmology,
Atsushi Miki, Motohiro Shirakashi, Kiyoshi Yaoeda, et al   +3 more
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