Purpose: The objective of this study was to evaluate, by halometry and under low illumination conditions, the effects of short-wavelength light absorbance filters on visual discrimination capacity in retinitis pigmentosa patients.
Methods: This was an observational, prospective, analytic, and transversal study on 109 eyes of 57 retinitis pigmentosa patients with visual acuity better than 1.25 logMAR. Visual disturbance index (VDI) was determined using the software Halo 1.0, with and without the interposition of filters which absorb (totally or partially) short-wavelength light between 380 and 500 nm.
Results: A statistically significant reduction in the VDI values determined using filters which absorb short-wavelength light was observed (p < 0.0001). The established VDIs in patients with VA logMAR <0.4 were 0.30 ± 0.05 (95% CI, 0.26-0.36) for the lens alone, 0.20 ± 0.04 (95% CI, 0.16-0.24) with the filter that completely absorbs wavelengths shorter than 450 nm, and 0.24 ± 0.04 (95% CI, 0.20-0.28) with the filter that partially absorbs wavelengths shorter than 450 nm, which implies a 20 to 33% visual discrimination capacity increase. In addition, a decrease of VDI in at least one eye was observed in more than 90% of patients when using a filter.
Conclusions: Short-wavelength light absorbance filters increase visual discrimination capacity under low illumination conditions in retinitis pigmentosa patients. Use of such filters constitutes a suitable method to improve visual quality related to intraocular light visual disturbances under low illumination conditions in this group of patients.
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http://dx.doi.org/10.1097/OPX.0000000000000924 | DOI Listing |
D e h ydro d olichyl d iphosphate s ynthase (DHDDS) is an essential enzyme required for several forms of protein glycosylation in all eukaryotic cells. Surprisingly, three mutant alleles, ( (K42E/K42E), (T206A/K42E), and found in only one patient, (R98W/K42E) have been reported that cause non-syndromic retinitis pigmentosa (RP59), an inherited retinal degeneration (IRD). Because T206A was only observed heterozygously with the K42E allele in RP59 patients, we used CRISPR/CAS9 technology to generate T206A/T206A, and subsequently T206A/K42E alleles in mice to assess the contribution of the T206A allele to the disease phenotype, to model the human disease, and to compare resulting phenotypes to our homozygous K42E mouse model.
View Article and Find Full Text PDFCurr Pharm Des
January 2025
Department of Physiology, Medical School, Selcuk University, Konya, Turkey.
Introduction: Brain ischemia-reperfusion can cause serious and irreversible health problems. Recent studies have suggested that certain flavonoids may help stabilize the correctly folded structure of the visual photoreceptor protein rhodopsin and offset the deleterious effect of retinitis pigmentosa mutations.
Objective: The current study aimed to determine the effect of 3',4'-Dihydroxyflavonol (DiOHF) supplementation for 1 week on lipid peroxidation in the retina tissue following focal brain ischemia-reperfusion in rats.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.
Introduction: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD.
View Article and Find Full Text PDFClin Genet
January 2025
Department of Medical Genetics, Medical Faculty, Aksaray University, Aksaray, Turkiye.
Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families.
View Article and Find Full Text PDFKlin Monbl Augenheilkd
January 2025
Dpt. of Ophthalmology, University Hospital Basel, Basel, Switzerland.
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