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Objectives: To evaluate the incidence and severity of depression in patients with retinitis pigmentosa (RP). Materials and Methods: The Beck Depression Inventory (BDI) was administered to 74 patients with RP and 60 healthy controls. Biomicroscopic anterior segment and fundus examination, visual field, optical coherence tomography, and full-field electroretinography tests were performed in all cases. Variables were evaluated with bivariate, multiple linear, and ordinal logistic regression analyses. Results: The RP group included 40 (54%) male and 34 (46%) female patients, while the control group included 23 (38%) male and 37 (62%) female subjects. The patient group had a mean age of 39.20±12.4 years, median best corrected visual acuity (BCVA) of 0.10 decimal (1.0 logarithm of the minimum angle of resolution [logMAR]; range, 1.3-0.7 logMAR), and median visual field mean deviation (MD) score of -28.00 decibels (dB) (range, -1.00 to -34.00 dB). The median BDI score was statistically significantly higher in the patient group (19 points) than in the control group (12 points) (p<0.001). Moderate to severe depression (BDI ≥20) was detected in 61% of patients, while this rate was 25% in healthy controls. BCVA and visual field MD values were identified as predictors of depression score and severity level. The patients' age and gender did not affect total depression score or severity. Conclusion: The prevalence and severity of depression were found to be higher in RP patients than in healthy controls. There was a significant relationship between the patient's functional vision tests and the frequency and severity of depression. Depression reduces the reliability of visual function tests and impairs patients' quality of life. Therefore, assessing mental health as well as functional tests is important in patients with RP. [ABSTRACT FROM AUTHOR]

Objectives: The full-field stimulus threshold (FST) test was developed to evaluate the efficacy and safety of treatments of hereditary retinal diseases. In this study we performed the FST test in patients with retinitis pigmentosa (RP) and compared the results with findings from other ophthalmological tests. Materials and Methods: The study included 51 intermediate and advanced RP patients and 21 normal subjects. All patients and controls underwent routine examination and ophthalmological tests including visual field, optical coherence tomography, full-field and multifocal electroretinography (mfERG), and FST tests. During FST testing, the perception thresholds of retina to the white, blue, and red FST were determined in decibels. Results: The mean age of the patients and the controls were 35.2 and 33.5 years, respectively. For all RP patients, no response was obtained on fullfield ERG. All subjects were able to perform reliable FST tests. The mean values of visual acuity and central macular thickness were significantly lower and visual field mean deviation values were significantly higher in the RP group than the controls. When we evaluated the mfERG findings, the mean P1 wave amplitudes in all rings were significantly lower and the mean peak times were significantly longer in RP patients than controls. In comparisons of FST test results, the mean values for white, blue, red and the difference between blue-red thresholds were significantly lower in the RP group than the control group. Conclusion: The FST test is a fast and a reliable exam which can be done in subjects with poor visual acuity and reduced visual field. The results of this study confirm that the FST test can measure retinal sensitivity in severely affected RP subjects with flat flash ERG. [ABSTRACT FROM AUTHOR]

Objectives: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness. One of the genetic defects that cause hereditary retinal dystrophy is mutation of the RPE65 gene. Genetic therapy studies in hereditary retinal dystrophies have increased in number recently, and important developments have been reported in these studies. Voretigene neparvovec-rzyl (Luxturna, Spark Therapeutics), a gene therapy drug for retinal dystrophy associated with RPE65 mutation, received Food and Drug Administration approval in 2017. This study aimed to investigate the frequency and clinical findings of patients with RPE65 gene defects, which may be amenable to genetic treatment. Materials and Methods: The data of patients diagnosed with hereditary retinal dystrophy who were followed up between 2017 and 2021 were retrospectively reviewed. Of these, 460 patients with genetic analysis results were included in the study. The clinical findings of patients with homozygous (biallelic) RPE65 mutation were screened. Results: RPE65 homozygous gene mutation was detected in only 11 of 460 cases (2.39%). Genetic results of the cases were presented in detail. The inheritance patterns of the cases were autosomal recessive. The demographic data and clinical findings were defined. Conclusion: RPE65 gene mutation is a very rare disorder. Genetic screening has gained importance with the emergence of gene therapy alternatives. New treatment methods are promising in cases for which there was no chance of a cure to date. [ABSTRACT FROM AUTHOR]

Objectives: T o assess the effects of anti-vascular endothelial growth factor (VEGF) drugs on retinal pigment epithelium cell culture. Materials and Methods: Aflibercept (0.5 mg/mL), bevacizumab (0.3125 mg/mL), and ranibizumab (0.125 mg/mL) were applied to retinal pigment epithelium cell cultures isolated from the enucleated eyes of New Zealand white rabbits. Viability, apoptosis, proliferation, and senescence of the cells were evaluated in control and drug-treated cultures at the end of 72 hours. Results: Cells treated with aflibercept showed increased viability and decreased apoptosis compared to the control culture and both the bevacizumab- and ranibizumab-treated groups (p<0.05). Statistically increased apoptosis and decreased viability were found in the bevacizumab and ranibizumab-treated groups compared with the control group (p<0.05). There were no statistically significant differences in cell proliferation and senescence between the groups (p>0.05). Conclusion: Anti-VEGF drugs did not affect senescence or proliferation of retinal pigment epithelium cells. Aflibercept was found to decrease apoptosis and increase cell viability, while ranibizumab and bevacizumab increased apoptosis and reduced cell viability in retinal pigment epithelium culture. [ABSTRACT FROM AUTHOR]

Stem cells are undifferentiated cells which have the ability to self-renew and differentiate into mature cells. They are highly proliferative, implying that an unlimited number of mature cells can be generated from a given stem cell source. On this basis, stem cell replacement therapy has been evaluated in recent years as an alternative for various pathologies. Degenerative retinal diseases cause progressive visual decline which originates from continuing loss of photoreceptor cells and outer nuclear layers. Theoretically, this therapy will enable the generation of new retinal cells from stem cells to replace the damaged cells in the diseased retina. In addition, stem cells are able to perform multiple functions, such as immunoregulation, anti-apoptosis of neurons, and neurotrophin secretion. With recent progress in experimental stem cell applications, phase I/II clinical trials have been approved. These latest stem cell transplantation studies showed that this therapy is a promising approach to restore visual function in eyes with degenerative retinal diseases such as retinitis pigmentosa, Stargardts' macular dystrophy, and age-related macular degeneration. This review focuses on new developments in stem cell therapy for degenerative retinal diseases. [ABSTRACT FROM AUTHOR]

Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to complete blindness. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family, highlighting further levels of complexity. The known disease genes encode proteins involved in retinal cellular structures, phototransduction, the visual cycle, and photoreceptor structure or gene regulation. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases, and gene replacement and gene silencing have been proposed as potentially efficacious therapies. Because of its favorable anatomical and immunological characteristics, the eye has been at the forefront of translational gene therapy. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods. Dozens of promising proofs of concept have been obtained in animal models of HRDs and some of them have been relayed to the clinic. The results from the first clinical trials for a congenital form of blindness have generated great interest and have demonstrated the safety and efficacy of intraocular administrations of viral vectors in humans. This review summarizes the clinical development of retinal gene therapy. [ABSTRACT FROM AUTHOR]

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