Cargando…

A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing

PURPOSE: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. CASE REPORT: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fukiyama, Yurie, Tonari, Masahiro, Matsuo, Junko, Oku, Hidehiro, Sugasawa, Jun, Shimakawa, Shuichi, Ogihara, Tohru, Okamoto, Nobuhiko, Ikeda, Tsunehiko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5892312/ https://www.ncbi.nlm.nih.gov/pubmed/29643790 http://dx.doi.org/10.1159/000485964

Ejemplares similares

Complete Recovery from Blindness in Case of Compressive Optic Neuropathy due to Unruptured Anterior Cerebral Artery Aneurysm
por: Fukiyama, Yurie, et al.
Publicado: (2017)

A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed
por: Eda, Shohei, et al.
Publicado: (2016)

C-reactive protein may be useful to differentiate idiopathic orbital inflammation and orbital cellulitis in cases with acute eyelid erythema and edema
por: Nishikawa, Yuko, et al.
Publicado: (2018)

A case of eosinophilic chronic rhinosinusitis associated with optic neuropathy
por: Kurimoto, Takuji, et al.
Publicado: (2011)

Ocular findings in Japanese children with Down syndrome: the course of visual acuity and refraction, and systemic and ocular anomalies
por: Terai, Tomoko, et al.
Publicado: (2018)

A Case of Childhood-Onset Giant Cell Tumor that Caused Optic Nerve Atrophy in Both Eyes
por: Tonari, Masahiro, et al.
Publicado: (2017)

A Case of Giant Pituitary Adenoma Associated with a Postoperative Mental Disorder That Ultimately Resulted in Bilateral Blindness
por: Tonari, Masahiro, et al.
Publicado: (2020)

Compressive optic neuropathy (CON) in Graves’ disease caused by hypertrophy of levator and superior rectus muscles: A case report
por: Hirokawa, Takahisa, et al.
Publicado: (2021)

Convergent strabismus fixus after bilateral abducens nerve palsies due to aneurysms: A case report
por: Oku, Hidehiro, et al.
Publicado: (2018)

Orbital apex syndrome associated with herpes zoster ophthalmicus
por: Kurimoto, Takuji, et al.
Publicado: (2011)

The Significance of Arteriosclerosis in the Fundus Oculi
Publicado: (1913)

Central retinal artery occlusion resembling Purtscher-like retinopathy
por: Kurimoto, Takuji, et al.
Publicado: (2011)

On a New Instrument for Photographing the Fundus Oculi
por: Rosebrugh, A. M.
Publicado: (1864)

The Fundus Oculi: A Review of Some Common Disorders
Publicado: (1919)

Involvement of Glycogen Synthase Kinase 3β (GSK3β) in Formation of Phosphorylated Tau and Death of Retinal Ganglion Cells of Rats Caused by Optic Nerve Crush
por: Fukiyama, Yurie, et al.
Publicado: (2023)

A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism
por: Miki, Michiko, et al.
Publicado: (2016)

Roscovitine, a Cyclin-Dependent Kinase-5 Inhibitor, Decreases Phosphorylated Tau Formation and Death of Retinal Ganglion Cells of Rats after Optic Nerve Crush
por: Hirokawa, Takahisa, et al.
Publicado: (2021)

Systemic Simvastatin Rescues Retinal Ganglion Cells from Optic Nerve Injury Possibly through Suppression of Astroglial NF-κB Activation
por: Morishita, Seita, et al.
Publicado: (2014)

Changes in Expression of Aquaporin-4 and Aquaporin-9 in Optic Nerve after Crushing in Rats
por: Suzuki, Hiroyuki, et al.
Publicado: (2014)

Performance evaluation of two fundus oculi angiographic imaging system: Optos 200Tx and Heidelberg Spectralis
por: Li, Shuang, et al.
Publicado: (2021)

Melanosis oculi
por: Mustafa, Osama M., et al.
Publicado: (2017)

Possible roles of anti-type II collagen antibody and innate immunity in the development and progression of diabetic retinopathy
por: Ikeda, Tsunehiko, et al.
Publicado: (2021)

Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report
por: Yonemoto, Yumiko, et al.
Publicado: (2018)

A comparison of sex steroid concentration levels in the vitreous and serum of patients with vitreoretinal diseases
por: Nishikawa, Yuko, et al.
Publicado: (2017)

Process of spontaneous resolution in the conservative management of congenital dacryocystocele
por: Mimura, Masashi, et al.
Publicado: (2014)

A case of neglected silicone tube in lacrimal duct for 20 years
por: Mimura, Masashi, et al.
Publicado: (2018)

Involvement of Anoikis in Dissociated Optic Nerve Fiber Layer Appearance
por: Ikeda, Tsunehiko, et al.
Publicado: (2021)

Hyperglycemia-induced VEGF and ROS production in retinal cells is inhibited by the mTOR inhibitor, rapamycin
por: Kida, Teruyo, et al.
Publicado: (2021)

Case of Bilateral Retinal Ischemia and Internal Carotid Artery Stenosis Associated With Graves' Disease
por: Kida, Teruyo, et al.
Publicado: (2021)

Improved Function of Orbicularis Oculi by Dynamic Transfer of Contralateral Orbicularis Oculi Muscle in Patients with Facial Palsy
por: Jamshidian-Tehrani, Mansooreh, et al.
Publicado: (2020)

Treatment of systemic hypertension is important for improvement of macular edema associated with retinal vein occlusion
por: Kida, Teruyo, et al.
Publicado: (2014)

Development of macular retinoschisis long after the onset of retinal arterial occlusion (RAO): a retrospective study
por: Ishizaki, Norihiko, et al.
Publicado: (2018)

Immunohistological Study of Monkey Foveal Retina
por: Ikeda, Tsunehiko, et al.
Publicado: (2019)

Central Retinal Vein Occlusion in 2 Patients Using Antipsychotic Drugs
por: Taki, Koichiro, et al.
Publicado: (2017)

Long-term evaluation of spontaneous release of epiretinal membrane and its possible pathogenesis
por: Kida, Teruyo, et al.
Publicado: (2017)

Impairment of Autophagy Causes Superoxide Formation and Caspase Activation in 661 W Cells, a Cell Line for Cone Photoreceptors, under Hyperglycemic Conditions
por: Taki, Koichiro, et al.
Publicado: (2020)

Clinical Features of Vitreomacular Traction Syndrome with Peripheral Vitreoretinal Adhesion
por: Fukumoto, Masanori, et al.
Publicado: (2020)

Dacryoendoscopy-guided re-canalization of canaliculops: Two case reports
por: Kitada, Tomoko, et al.
Publicado: (2021)

Transcorneal electrical stimulation increases chorioretinal blood flow in normal human subjects
por: Kurimoto, Takuji, et al.
Publicado: (2010)

Functional characterization of orbicularis oculi and extraocular muscles
por: Sekulic-Jablanovic, Marijana, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_bg5bl27ivpvsniabeca7d16rkc