Results 41 to 50 of about 85,145 (254)

Septo-optic dysplasia with pachygyria

Medical Journal of Dr. D.Y. Patil University, 2014
Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is
Abhay A Lune, Sonali A Lune
doaj   +1 more source

Analyzing the ophthalmic red reflex test in children with congenital Zika syndrome [PDF]

Revista Brasileira de Oftalmologia
Objective: To evaluate the red reflex test in children with congenital Zika syndrome in order to predict the occurrence of retinal lesion or optic nerve hypoplasia in these patients.
Marcia Beatriz Tartarella, Islane Maria Castro Verçosa, Paloma Castro Verçosa, Paula Carneiro, Reno Castro Verçosa, Eduarda Tartarella-Nascimento, Luciano Pamplona de Goés Cavalcanti, Erlane Marques Ribeiro, João Borges Fortes Filho   +8 more
doaj   +1 more source

Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia. [PDF]

Sci Rep, 2017
We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed.
Katagiri S, Nishina S, Yokoi T, Mikami M, Nakayama Y, Tanaka M, Azuma N.   +6 more
europepmc   +2 more sources

Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses, 2020
Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of
Andréia Veras Gonçalves, Demócrito de B. Miranda-Filho, Líbia Cristina Rocha Vilela, Regina Coeli Ferreira Ramos, Thalia V. B. de Araújo, Rômulo A. L. de Vasconcelos, Maria Angela Wanderley Rocha, Sophie Helena Eickmann, Marli Tenório Cordeiro, Liana O. Ventura, Ulisses Ramos Montarroyos, Alessandra Mertens Brainer, Maria Durce Costa Gomes, Paula Fabiana Sobral da Silva, Celina M. T. Martelli, Elizabeth B. Brickley, Ricardo A. A. Ximenes   +16 more
doaj   +1 more source

Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms [PDF]

Анналы клинической и экспериментальной неврологии, 2022
Three case studies of adults with Leber hereditary optic neuropathy with and without neurological symptoms are presented. An elevated blood lactate level and changes in the activity of the mitochondrial enzymes in peripheral blood lymphocytes were noted.
Sergey V. Kotov, Olga P. Sidorova, Elena V. Borodataya, Irina A. Vasilenko, Alexander V. Borodin   +4 more
doaj   +1 more source

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

BMC Ophthalmology, 2021
Background ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene.
Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova   +7 more
doaj   +1 more source

Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia. [PDF]

Horm Res Paediatr, 2017
Background: Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with
Garcia-Filion P, Almarzouki H, Fink C, Geffner M, Nelson M, Borchert M.   +5 more
europepmc   +2 more sources

Optic Nerve Hypoplasia: Controversies in Embryogenesis

, 2023
Optic nerve hypoplasia is the most common congenital optic disc anomaly encountered in clinical practice. Despite the fact that pediatric ophthalmology clinics across the world are swarmed with patients who have optic nerve hypoplasia, this focal form of
Michael Brodsky, MD
core   +2 more sources

SCALP syndrome: What is it and its ophthalmic manifestations

American Journal of Ophthalmology Case Reports, 2018
Purpose: To present the ophthalmic manifestations of a 3-month old female with SCALP syndrome. Observations: The patient presented with multiple ocular anomalies including bilateral limbal dermoids, esotropia and left optic nerve hypoplasia. Conclusions:
Geoffrey Z.P. Chan, Louis Stevenson, Swati Sinkar, Geoffrey C. Lam   +3 more
doaj   +1 more source

Optic nerve hypoplasia in the fetal alcohol syndrome:a mouse model [PDF]

, 1995
Optic nerve hypoplasia is commonly observed in children affected by the fetal alcohol syndrome, and is believed to contribute to their poor visual acuity.
Dhillon, Baljean, Parson, S H, Findlater, G S, Kaufman, M H   +3 more
core   +1 more source