scholarly journals Dorzolamide in a management of cystoid macular edema in a patient with retinitis pigmentosa sine pigmento

2017 ◽  
Vol 145 (5-6) ◽  
pp. 296-300
Author(s):  
Jelena Karadzic ◽  
Igor Kovacevic ◽  
Aleksandra Radosavljevic ◽  
Ivan Stefanovic
Keyword(s):  
Retinitis Pigmentosa ◽  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Visual Field Loss ◽  
Ophthalmological Examination ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Advanced Stages

Introduction. Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies caused by mutations in various genes. The disease leads to progressive photoreceptors loss (rods predominantly) and retinal pigment epithelium alteration. RP can lead to blindness in the advanced stages of the disease, when the central retina is involved, mostly due to the presence of cystoid macular edema (CME). Several therapeutic approaches for CME in RP patients have been attempted but responses have been variable. Case outline. A 51-year-old man was referred due to progressive six-month-long blurring of vision in both eyes. The patient underwent complete ophthalmological examination at baseline. Based on the clinical presentation of mottled mid periphery of the retina and characteristic tubular visual field loss, hence typical fluorescein angiography and optical coherence tomography (OCT) findings, the patient was diagnosed as bilateral retinitis pigmentosa sine pigmento with CME. In an attempt to control the edema, treatment was started with dorzolamide, instilled three times daily in each eye, which resulted in reduction of macular edema in a one-month-period, as documented by OCT. This effect was further monitored for five months and was stable. Conclusion. In the presented case, we investigate the six-month therapeutic efficacy of dorzolamide for dealing with the CME secondary to RP. Topical carbonic anhydrase inhibitors are considered as the first option for treatment of CME in RP patients, due to their high efficacy and safety.

scholarly journals Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies

2021 ◽  
Vol 13 ◽  
pp. 251584142199719
Author(s):  
Simranjeet Singh Grewal ◽  
Joseph J. Smith ◽  
Amanda-Jayne F. Carr
Keyword(s):  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Induced Pluripotent Stem Cell ◽  
Underlying Disease ◽  
Incomplete Penetrance ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
High Acuity ◽  
Induced Pluripotent

Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that typically affect the macular region, an area synonymous with central high acuity vision. This spectrum of disorders is caused by mutations in bestrophin1 ( BEST1), a protein thought to act as a Ca2+-activated Cl- channel in the retinal pigment epithelium (RPE) of the eye. Although bestrophinopathies are rare, over 250 individual pathological mutations have been identified in the BEST1 gene, with many reported to have various clinical expressivity and incomplete penetrance. With no current clinical treatments available for patients with bestrophinopathies, understanding the role of BEST1 in cells and the pathological pathways underlying disease has become a priority. Induced pluripotent stem cell (iPSC) technology is helping to uncover disease mechanisms and develop treatments for RPE diseases, like bestrophinopathies. Here, we provide a comprehensive review of the pathophysiology of bestrophinopathies and highlight how patient-derived iPSC-RPE are being used to test new genomic therapies in vitro.

scholarly journals Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells

Antioxidants ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 1154 ◽  
Author(s):  
Concetta Scimone ◽  
Simona Alibrandi ◽  
Sergio Zaccaria Scalinci ◽  
Edoardo Trovato Battagliola ◽  
Rosalia D’Angelo ◽  
...  
Keyword(s):  
Blue Light ◽  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
R Package ◽  
Rpe Cells ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Increased Risk ◽  
Angiogenic Markers

Inherited retinal dystrophies are characterized by photoreceptor death. Oxidative stress usually occurs, increasing vision loss, and oxidative damage is often reported in retinitis pigmentosa (RP). More than 300 genes have been reported as RP causing. In contrast, choroidal neovascularization (CNV) only occasionally develops in the late stages of RP. We herein study the regulation of RP causative genes that are likely linked to CNV onset under oxidative conditions. We studied how the endogenous adduct N-retinylidene-N-retinylethanolamine (A2E) affects the expression of angiogenic markers in human retinal pigment epithelium (H-RPE) cells and a possible correlation with RP-causing genes. H-RPE cells were exposed to A2E and blue light for 3 and 6h. By transcriptome analysis, genes differentially expressed between A2E-treated cells and untreated ones were detected. The quantification of differential gene expression was performed by the Limma R package. Enrichment pathway analysis by the FunRich tool and gene prioritization by ToppGene allowed us to identify dysregulated genes involved in angiogenesis and linked to RP development. Two RP causative genes, AHR and ROM1, can be associated with an increased risk of CNV development. Genetic analysis of RP patients affected by CNV will confirm this hypothesis.

Retinitis Pigmentosa: Clinical Features, Imaging, and Diagnosis

2021 ◽  
pp. 107-112
Keyword(s):  
Retinitis Pigmentosa ◽  
Vision Loss ◽  
Fundus Autofluorescence ◽  
Visual Field Loss ◽  
Clinical Findings ◽  
Autofluorescence Imaging ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Central Vision Loss ◽  
Progressive Degeneration

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterized by progressive degeneration of rod and cone photoreceptors. The worldwide prevalence of the disease is 1/4000. The earliest symptom in RP is most commonly night blindness, followed by concentric visual field loss. Central vision loss occurs later in life due to cone dysfunction. Photoreceptor responses measured with an electroretinogram are reduced or undetectable. Optical coherence tomography shows a progressive loss of outer retinal layers and fundus autofluorescence imaging reveals alteration autofluorescence in a characteristic pattern. Mutations in more than 80 different genes have been associated with non-syndromic RP. The heterogeneity of RP makes it challenging to describe the clinical findings. The objective of this review is to provide an overview of the clinical characteristics and diagnosis of RP.

Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy

2017 ◽  
Vol 27 (6) ◽  
pp. e179-e183 ◽  
Author(s):  
Elena Piozzi ◽  
Salvatore Alessi ◽  
Silvia Santambrogio ◽  
Giovanni Cillino ◽  
Marco Mazza ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Carbonic Anhydrase Inhibitor ◽  
Gyrate Atrophy ◽  
First Case ◽  
Membrane Bound ◽  
Inflammatory Drugs

Purpose Gyrate atrophy of the choroid and retina (GACR) is a rare chorioretinal dystrophy characterized by a deficiency of the enzyme ornithine aminotransferase, inherited in an autosomal recessive pattern. Case Report We report a case of a 17-year-old girl with GACR, for whom the level of serum ornithine had been reduced by an arginine-restricted diet. The patient was responsive to an association of topical nonsteroidal anti-inflammatory drugs (NSAIDs) and a carbonic anhydrase inhibitor (CAI) to reduce cystoid macular edema (CME). Conclusions The efficacy of topical NSAIDs and systemic CAI association indicates that the imbalance in the distribution of retinal pigment epithelium membrane-bound carbonic anhydrase could play a major role in CME pathogenesis in GACR. To our knowledge, this is the first case of therapy with CAI treatment for GACR-related CME.

Taxane Induced Cystoid Macular Edema: Case Report and Integrated Pathogenic Theory

2019 ◽  
Vol 14 (1) ◽  
pp. 43-47 ◽  
Author(s):  
M. Kanakis ◽  
I. Georgalas ◽  
T. Makatsoris ◽  
N. Pharmakakis
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Fluorescein Angiography ◽  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Additional Treatment ◽  
Published Data ◽  
Optical Coherence

Purpose: To report a case of a 73-year-old man who presented with decreased visual acuity due to bilateral macular edema after paclitaxel administration for prostate cancer. Methods: The ophthalmic evaluation consisted of medical and ocular history, Best Corrected Visual Acuity, slit-lamp biomicroscopy and Spectral-domain optical coherence tomography / Fluorescein Angiography. Results: Optical Coherence Tomography and Fluorescein Angiography revealed silent cystoid macular edema. After consulting with the oncologist, the cessation of paclitaxel therapy was decided. The patient presented a gradual but steady resumption of the retinal edema, with complete restoration of normal retinal morphology and function within two months. The pathogenesis of the silent Cystoid Macular Edema (CME) is still unclear. Based on our case and a critical review of the previous observations and published data, we propose that the underlying cause of Taxane induced CME is the functional failure of Aquaporin mediated water transport at the level of retinal Intermediate and Deep capillary plexuses, and at lesser extent at the level of the Retinal Pigment Epithelium. Conclusion: Taxane induced silent CME should be attributed to the action of Taxanes on the microtubule guided aquaporin vesicles transport to the cell membrane. In our case of Taxane induced silent CME, withdrawal of the taxane was enough for complete recovery, and no additional treatment was needed.

scholarly journals Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

Antioxidants ◽  
2020 ◽  
Vol 9 (4) ◽  
pp. 307 ◽  
Author(s):  
Luigi Donato ◽  
Rosalia D’Angelo ◽  
Simona Alibrandi ◽  
Carmela Rinaldi ◽  
Antonina Sidoti ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Molecular Mechanisms ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Genetic Diseases ◽  
Age Related Macular Degeneration ◽  
Retinal Cell ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Age Related

Oxidative stress represents one of the principal inductors of lifestyle-related and genetic diseases. Among them, inherited retinal dystrophies, such as age-related macular degeneration and retinitis pigmentosa, are well known to be susceptible to oxidative stress. To better understand how high reactive oxygen species levels may be involved in retinal dystrophies onset and progression, we performed a whole RNA-Seq experiment. It consisted of a comparison of transcriptomes’ profiles among human retinal pigment epithelium cells exposed to the oxidant agent N-retinylidene-N-retinylethanolamine (A2E), considering two time points (3h and 6h) after the basal one. The treatment with A2E determined relevant differences in gene expression and splicing events, involving several new pathways probably related to retinal degeneration. We found 10 different clusters of pathways involving differentially expressed and differentially alternative spliced genes and highlighted the sub- pathways which could depict a more detailed scenario determined by the oxidative-stress-induced condition. In particular, regulation and/or alterations of angiogenesis, extracellular matrix integrity, isoprenoid-mediated reactions, physiological or pathological autophagy, cell-death induction and retinal cell rescue represented the most dysregulated pathways. Our results could represent an important step towards discovery of unclear molecular mechanisms linking oxidative stress and etiopathogenesis of retinal dystrophies.

scholarly journals Cystoid macular edema precipitated by altitude in a patient with X-linked retinitis pigmentosa

2020 ◽  
Vol 41 (3) ◽  
pp. 275-278
Author(s):  
Peter Y. Zhao ◽  
Peter G. Hovland ◽  
Abigail Teich Fahim
Keyword(s):  
Retinitis Pigmentosa ◽  
Macular Edema ◽  
Cystoid Macular Edema

scholarly journals USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 213
Author(s):  
Benedetto Falsini ◽  
Giorgio Placidi ◽  
Elisa De Siena ◽  
Maria Cristina Savastano ◽  
Angelo Maria Minnella ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Usher Syndrome ◽  
Collaborative Study ◽  
Staging System ◽  
International Standards ◽  
Full Field ◽  
Functional Studies ◽  
Cumulative Score

Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease.

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