نتایج جستجو برای: optic nerve hypoplasia

تعداد نتایج: 201064  

Journal: :Journal of Medical Genetics 2017

Journal: :The British journal of ophthalmology 1969
K L Macoul A Dellaporta L C Miller

Hypoplasia of the optic nerve is uncommon (Scheie and Adler, I94I; Somerville, I962; Whinery and Blodi, I963; Ewald, I967). It is usually due to a failure of development of the ganglion cell layer of the retina and results in a small but discernible optic disc with central vessels. The disc may be cupped with a peripapillary, mottled, yellowish halo corresponding to the size of the normal disc,...

Journal: :The British journal of ophthalmology 1978
L Frisén L Holmegaard

Optic nerve hypoplasia is a non-progressive condition characterised by subnormal vision and a subnormal number of optic nerve axons. It may be unilateral or bilateral, isolated or combined with other defects. Analysis of fundus photographs from a series of 7 patients with a stationary abnormality of different degrees showed that the functional defects could be closely correlated with defects in...

Journal: :American journal of human genetics 2003
Noriyuki Azuma Yuki Yamaguchi Hiroshi Handa Keiko Tadokoro Atsuko Asaka Eriko Kawase Masao Yamada

The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia. However, it has not been identified in patients with optic-nerve malformations...

2018

De-Morsier’s syndrome or Septo-optic dysplasia is a rare medical disorder which is strongly associated with CNS, Ophthalmological manifestations. However, in minority of patients, this condition presents with olfactory tract hypoplasia. The CNS abnormalities include abnormalities of the hypothalamicpituitary axis, hypoplasia of the optic nerve. Often, absence of septum pellucidum is seen along ...

Journal: :Veterinary pathology 1989
J B Messick M J Radin

Congenital aplasia and hypoplasia of the optic nerves are rarely seen in human beings4 and an imak6 Similar conditions occur infrequently in but no detailed description of the condition has been given, except for the Bmn-wys strain of rat. Bmn-wys rats are animal models of inherited retinal degeneration; aplasia or hypoplasia of the optic nerve occurs in association with microphthalmosI0 in the...

Journal: :Klinika oczna 2023

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Nowak M, K, Nieć Pojda-Wilczek D. The role of visual evoked potentials in ophthalmological evaluation a patient with optic nerve hypoplasia septo-optic dysplasia. Klinika Oczna / Acta Ophthalmologica Polonica. 2023. doi:10.5114/ko.2023.124701. APA Nowak, M., K., Nieć, & Pojda-Wilczek, (2023). https://doi.org/10.51...

2014
Gönül Çatlı Ayça Altıncık Ahmet Anık Korcan Demir Handan Güleryüz Ayhan Abacı Ece Ece Böber

Septo-optic dysplasia (SOD) is a heterogeneous disorder of the central nervous system characterized by various endocrinological and neurological findings. It is a complex disease caused by a combination of genetic and environmental factors. Herein, we report the case of a 5.5-year-old girl who presented with short stature and strabismus. Ophthalmological examination revealed bilateral optic ner...

Journal: :BMJ case reports 2017
Joshua Paul Harvey

Harvey JP. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220343 Description A 19-year-old man was incidentally noted to have a bitemporal heteronymous hemianopia on automated perimetry during his first optician’s sight test (figure 1). The patient reported life-long reduced vision in the right eye although this was his first presentation to ophthalmic services. The patient was induced at 34 weeks due...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید