Ocular Albinism

2021 ◽  
pp. 236-242
Keyword(s):  
Gene Therapy ◽  
Differential Diagnosis ◽  
Optic Nerve ◽  
Effective Treatment ◽  
Early Treatment ◽  
Loss Of Function ◽  
Poor Vision ◽  
Ocular Albinism ◽  
Infantile Nystagmus ◽  
Foveal Hypoplasia

Ocular albinism is an X-linked melanosome biogenesis disorder, leading to mild cutaneous symptoms and persistent visual impairment in affected males. As a result of mutations in the GPR143 gene, a defect occurs in the transformation of melanosomes into macromelanosomes with loss of function at the GPBR143 receptor. Clinically, manifests with nystagmus, which typically occurs in infants until the sixth month from birth. Optic nerve misdirection which can be detected by VEP is important in the differential diagnosis of another infantile nystagmus. Foveal hypoplasia is the most responsible finding for poor vision. Today, functional losses are tried to be minimized by differential diagnosis and early treatment. It is predicted that more effective treatment can be provided with gene therapy in the future.

CT scan in the differential diagnosis of thickened optic nerve

Orbit ◽  
1986 ◽  
Vol 5 (4) ◽  
pp. 255-258 ◽  
Author(s):  
G. Uccello ◽  
P. Fedriga ◽  
F. Tranfa ◽  
P. Vassallo ◽  
G. Bonavolonta
Keyword(s):  
Differential Diagnosis ◽  
Optic Nerve ◽  
Ct Scan

scholarly journals Progress in Gene Therapy to Prevent Retinal Ganglion Cell Loss in Glaucoma and Leber’s Hereditary Optic Neuropathy

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
Sara E. Ratican ◽  
Andrew Osborne ◽  
Keith R. Martin
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Optic Nerve ◽  
Genome Editing ◽  
Optic Neuropathy ◽  
Single Gene ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Potential Use ◽  
Hereditary Optic Neuropathy

The eye is at the forefront of the application of gene therapy techniques to medicine. In the United States, a gene therapy treatment for Leber’s congenital amaurosis, a rare inherited retinal disease, recently became the first gene therapy to be approved by the FDA for the treatment of disease caused by mutations in a specific gene. Phase III clinical trials of gene therapy for other single-gene defect diseases of the retina and optic nerve are also currently underway. However, for optic nerve diseases not caused by single-gene defects, gene therapy strategies are likely to focus on slowing or preventing neuronal death through the expression of neuroprotective agents. In addition to these strategies, there has also been recent interest in the potential use of precise genome editing techniques to treat ocular disease. This review focuses on recent developments in gene therapy techniques for the treatment of glaucoma and Leber’s hereditary optic neuropathy (LHON). We discuss recent successes in clinical trials for the treatment of LHON using gene supplementation therapy, promising neuroprotective strategies that have been employed in animal models of glaucoma and the potential use of genome editing techniques in treating optic nerve disease.

Congenital optic disc coloboma

2021 ◽  
pp. 33-39
Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Optic Nerve ◽  
Clinical Picture ◽  
Clinical Case ◽  
Charge Syndrome ◽  
Diagnostic Methods ◽  
Newly Diagnosed ◽  
Optic Nerve Atrophy ◽  
Optic Disc Coloboma ◽  
Optic Nerve Coloboma

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.

scholarly journals Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia

2016 ◽  
Vol 10 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Eyyup Karahan ◽  
Ayse Tulin Berk
Keyword(s):  
Optic Nerve ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Optic Nerve Hypoplasia ◽  
Refractive Errors ◽  
Poor Vision ◽  
The Relationship ◽  
The Brain ◽  
Ocular Signs ◽  
Neurologic Findings

Aim: To describe the associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia (ONH) and to evaluate the relationship between ocular signs and neurologic findings. Method: A retrospective chart review of 53 patients with the diagnosis of ONH seen between December 1998 and September 2012 was performed. All neurodevelopmental anomalies, neuroradiologic findings, endocrinologic and systemic findings were recorded. Poor vision was defined as the visual acuity poorer than logMAR 1.0 or inadequate central steady maintained fixation. Results: Thirty (56.6%) of the 53 children with ONH were boys. Mean age at presentation was 56.2±46.8 months (range; 3 months to 18 years). Poor vision defined for the purpose of this study was found in 47.2% of 53 patients. Thirty-three (62.3%) children had nystagmus. Thirty-four (64.2%) children had strabismus. Thirteen (38.2%) of those with strabismus had esotropia, 20 (58.8%) had exotropia. The total number of the children with neurodevelopmental deficit was 22 (41.5%) in our study. Conclusion: The vision of young children with ONH should be monitored at least annually, and any refractive errors should be treated. Neuroimaging of the brain and endocrinologic evaluation is necessary in all cases with ONH.

Cerebral Liposarcoma Embolus From Heart Metastasis Successfully Treated by Endovascular Extraction Followed by Cardiac Surgery

2018 ◽  
Vol 52 (8) ◽  
pp. 653-657 ◽  
Author(s):  
Maria Passhak ◽  
Yaaqov Amsalem ◽  
Eugene Vlodavsky ◽  
Inna Varaganov ◽  
Gil Bar-Sela
Keyword(s):  
Differential Diagnosis ◽  
Cardiac Surgery ◽  
Effective Treatment ◽  
Neurological Symptoms ◽  
Chemotherapy Treatment ◽  
Oncology Patients ◽  
Current Case ◽  
Active Approach ◽  
Tumor Emboli ◽  
Heart Metastasis

The current case presents a patient with a tumor emboli stroke as a presenting symptom of a liposarcoma metastasis to the heart that was treated successfully with endovascular mechanical retrieval, followed by subsequent cardiac surgery. The patient is still alive, under chemotherapy treatment, 3 years following the interventions. This scenario should be considered as a part of the differential diagnosis of oncology patients presenting with new central neurological symptoms. This active approach can be an effective treatment if the patient is fit and there is no evidence of widespread disease.

scholarly journals B-RAF kinase drives developmental axon growth and promotes axon regeneration in the injured mature CNS

2014 ◽  
Vol 211 (5) ◽  
pp. 801-814 ◽  
Author(s):  
Kevin J. O’Donovan ◽  
Kaijie Ma ◽  
Hengchang Guo ◽  
Chen Wang ◽  
Fang Sun ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Axon Regeneration ◽  
Axon Growth ◽  
Loss Of Function ◽  
Pten Loss ◽  
Raf Kinase ◽  
Central Nervous Systems ◽  
Neurotrophin Signaling ◽  
Peripheral Sensory

Activation of intrinsic growth programs that promote developmental axon growth may also facilitate axon regeneration in injured adult neurons. Here, we demonstrate that conditional activation of B-RAF kinase alone in mouse embryonic neurons is sufficient to drive the growth of long-range peripheral sensory axon projections in vivo in the absence of upstream neurotrophin signaling. We further show that activated B-RAF signaling enables robust regenerative growth of sensory axons into the spinal cord after a dorsal root crush as well as substantial axon regrowth in the crush-lesioned optic nerve. Finally, the combination of B-RAF gain-of-function and PTEN loss-of-function promotes optic nerve axon extension beyond what would be predicted for a simple additive effect. We conclude that cell-intrinsic RAF signaling is a crucial pathway promoting developmental and regenerative axon growth in the peripheral and central nervous systems.

Onset-offset visual evoked potentials in the diagnosis of ocular albinism in infantile nystagmus

2016 ◽  
Vol 94 ◽  
Author(s):  
M. Bouladi ◽  
R. Bouraoui ◽  
R. Limaiem ◽  
N. Chaker ◽  
F. Mghaieth ◽  
...  
Keyword(s):  
Evoked Potentials ◽  
Visual Evoked Potentials ◽  
Ocular Albinism ◽  
Infantile Nystagmus ◽  
Visual Evoked

Optic nerve glioma treatment with fractionated stereotactic radiotherapy

2013 ◽  
Vol 11 (5) ◽  
pp. 596-599 ◽  
Author(s):  
Nuri Uslu ◽  
Ebru Karakaya ◽  
Aysen Dizman ◽  
Dincer Yegen ◽  
Yildiz Guney
Keyword(s):  
Optic Nerve ◽  
Effective Treatment ◽  
Stereotactic Radiotherapy ◽  
Fractionated Stereotactic Radiotherapy ◽  
Severe Toxicity ◽  
Optic Nerve Glioma ◽  
The Right ◽  
Current Report

In the current report, the authors present a case of optic nerve glioma treated with fractionated stereotactic radiotherapy (FSRT). An 11-year-old girl was referred to our clinic with increasing proptosis over a 1-year period. At that time orbital MRI revealed a 20 × 17–mm mass in the right retroorbital lipomatous tissue, and FSRT was delivered to the tumor using the CyberKnife. During the 1.5-year follow-up, ophthalmological examinations did not indicate any treatment-related severe toxicity, and posttreatment MRI demonstrated marked regression of the lesion to 13 × 10 mm. Given the scarcity of reports on this subject, the authors support more extended studies of the CyberKnife for the effective treatment of this relatively common childhood tumor.

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