Electroretinogram in Hereditary Retinal Disorders

Background & Objective: Müller cell is the major type of glial cell in the vertebrate retina. Müller cells express various types of K+ channels, such as inwardly rectifying K+ (Kir) channels, big conductance Ca2+-activated K+ (BKCa) channels, delayed rectifier K+ channels (KDR), and transient A-type K+ channels. These K+ channels play important roles in maintaining physiological functions of Müller cells. Under some retinal pathological conditions, the changed expression and functions of K+ channels may contribute to retinal pathogenesis. Conclusion: In this article, we reviewed the physiological properties of K+ channels in retinal Müller cells and the functional changes of these channels in retinal disorders.

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A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

Genes ◽

10.3390/genes11111240 ◽

2020 ◽

Vol 11 (11) ◽

pp. 1240

Author(s):

Agnieszka Rafalska ◽

Anna M. Tracewska ◽

Anna Turno-Kręcicka ◽

Milena J. Szafraniec ◽

Marta Misiuk-Hojło

Keyword(s):

Vision Loss ◽

Compound Heterozygous ◽

Loss Of Function ◽

Mild Phenotype ◽

Cone Function ◽

Retinal Disorders ◽

Molecular Inversion Probes ◽

Disease Experience ◽

The Individual ◽

Inherited Retinal Disorders

CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, discovered in a patient suffering from retinitis pigmentosa using massive parallel sequencing of a molecular inversion probes library constructed for 108 genes involved in IRDs. A milder phenotype than expected was found in the individual, which serves to prove that some CEP290-associated disorders may display preserved cone function.

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Retinal functional imager (RFI): Non-invasive functional imaging of the retina

Nepalese Journal of Ophthalmology ◽

10.3126/nepjoph.v5i2.8738 ◽

2013 ◽

Vol 5 (2) ◽

pp. 250-257 ◽

Cited By ~ 8

Author(s):

Sunil Ganekal

Keyword(s):

Functional Imaging ◽

Structural Changes ◽

Imaging System ◽

Retinal Blood Flow ◽

Capillary Perfusion ◽

Functional Changes ◽

Non Invasive ◽

Retinal Disorders ◽

Retinal Blood Flow Velocity ◽

Perfusion Maps

Retinal functional imager (RFI) is a unique non-invasive functional imaging system with novel capabilities for visualizing the retina. The objective of this review was to show the utility of non-invasive functional imaging in various disorders. Electronic literature search was carried out using the websites www.pubmed.gov and www.google.com. The search words were retinal functional imager and non-invasive retinal imaging used in combination. The articles published or translated into English were studied. The RFI directly measures hemodynamic parameters such as retinal blood-flow velocity, oximetric state, metabolic responses to photic activation and generates capillary perfusion maps (CPM) that provides retinal vasculature detail similar to flourescein angiography. All of these parameters stand in a direct relationship to the function and therefore the health of the retina, and are known to be degraded in the course of retinal diseases. Detecting changes in retinal function aid early diagnosis and treatment as functional changes often precede structural changes in many retinal disorders. Nepal J Ophthalmol 2013; 5(10): 250-257 DOI: http://dx.doi.org/10.3126/nepjoph.v5i2.8738

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Gene Therapy for Inherited Retinopathies: Update on Development Progress

Journal of VitreoRetinal Diseases ◽

10.1177/2474126418783934 ◽

2018 ◽

Vol 2 (4) ◽

pp. 219-226

Author(s):

Susan Sun ◽

Sandra R. Montezuma

Keyword(s):

Gene Therapy ◽

Genetic Disorders ◽

Treatment Options ◽

Genetic Material ◽

Disease Process ◽

Supportive Therapy ◽

The Us ◽

Retinal Disorders ◽

The Status ◽

Therapy Treatment

Inherited retinopathies are a group of genetic disorders that lead to blindness and/or vision impairment. Until now, treatment options for inherited retinopathies largely remained limited to supportive therapy. Gene therapy is an attractive therapeutic technique that allows repair of diseased genes, and it has shown success in vision improvement for patients affected by retinal disorders caused by genetic mutations. The US Food and Drug Administration approved the first gene therapy treatment for the eye, indicated for biallelic RPE65 mutation associated Leber congenital amaurosis (LCA), in December of 2017. Additionally, results from other ongoing clinical trials could further establish gene therapy as the milestone treatment that plays a role in disease process reversal for inherited retinopathies. This review article provides an update on the status of gene therapy for treatment of a variety of retinopathies, including LCA, choroideremia, achromatopsia, Stargardt disease, X-linked retinitis pigmentosa, and X-linked retinoschisis. Furthermore, this article explores transport methods of the genetic material, as well as therapy-delivery approaches used in the clinical setting.

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