Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.

Early-onset, severe retinal dystrophy can be isolated or syndromic, presenting as part of an underlying systemic disease. Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease, is caused by recessive mutations in the intraflagellar transport 140 chlamydomonas homologue (IFT140) gene. We present a series of 13 cases of early-onset retinal dysfunction with confirmed IFT140 mutations from 8 unrelated Saudi families belonging to 3 well-known tribes.

Magnetite/MXene (FeO/TiC) Nanocomposite as a Novel Adsorbent for Environmental Remediation of Malachite Green Dye.

In this work, a novel adsorbent called magnetite/MXene (FeO/TiC) nanocomposite was prepared, characterized, and applied for the removal of organic dye, malachite green dye (MG), from both real water and model solutions. Numerous techniques were used to characterize the prepared FeO/TiC nanocomposite: XRD, SEM, TEM, FTIR, and surface area analysis. The outcomes showed that the Al layer had been selectively etched, that the MAX phase (TiAlC) had been transformed into layered TiC MXene, that the cubic FeO phase had been prepared, and that the prepared FeO NPs had been evenly distributed on the MXene surface.

Refractive Changes among Diode Laser-treated Retinopathy of Prematurity Patients: A Retrospective Study.

Purpose: The purpose of this study was to assess the refractive outcomes of patients who underwent indirect laser photocoagulation for prethreshold type 1 retinopathy of prematurity (ROP) and high-risk type 2 prethreshold ROP in comparison to conservatively managed low-risk prethreshold type 2 ROP.

Methods: A retrospective analysis was carried out on infants screened for ROP between the years 2015 and 2020. Surviving children who had developed ROP in one or both eyes and received diode laser photocoagulation and those with conservatively managed regressed type 2 ROP who underwent at least one cycloplegic retinoscopy were included in the study.

Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

Purpose: Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes responsible for achromatopsia have been identified (e.

An Eco-Friendly, Interference, and Solvent Free Surfactant-Assisted Dual-Wavelength -CorrectionSpectrometric Method for Total Determination and Speciation of Cu Ions in Water.

Spectral interference through the presence of uninformative variables, excess reagents, and complications in the refinement of the analyte signal is common in the quest to identify complex species in real samples. Therefore, an economical green, facile, and sensitive strategy has been developed for Cu detection using the anionic surfactant sodium dodecylsulphate- (SDS-) assisted dual-wavelength -correction spectrophotometric strategy combined with the chromogenic reagent zincon (ZI). The low limits of detection (LOD) and quantification (LOQ) of Cu using ordinary (single wavelength) spectrophotometry were 0.