Myopia control utilizing low-dose atropine as an isolated therapy or in combination with other optical measures: A retrospective cohort study

PURPOSE: To assess the additive potency of low-dose atropine combined with optical measures designed to decrease myopia progression. MATERIALS AND METHODS: This retrospective study included 104 myopic children aged 5–12 over 4 years, divided into five groups: daily instillation of 0.01% atropine and distance single-vision spectacles (A), 0.01% atropine and progressive addition lenses (A + PAL), 0.01% atropine and soft contact lens with peripheral blur (A + CL). Two control groups were included, prescribed bifocal spectacles or single vision (SV) spectacles. Cycloplegic spherical equivalence refraction was measured biannually, including 1 year after cessation of treatment. RESULTS: A significant decrease in myopia progression was noted during the 2nd and 3rd years of atropine treatment: A −0.55 ± 0.55D, −0.15 ± 0.15, −0.12 ± 0.12D were 1st, 2nd, 3rd years, respectively, A + PAL −0.47 ± 0.37D, −0.10 ± 0.25D, and −0.11 ± 0.25D were 1st, 2nd, 3rd years, respectively, A + CL −0.36 ± 0.43D, −0.13 ± 0.29D, and −0.10 ± 0.27D were 1st, 2nd, 3rd years, respectively. Myopia progression over 3 years, respectively, was −0.82 ± 0.50D, −0.70 ± 0.69D, −0.59 ± 0.66D in the bifocal group and −1.20 ± 1.28D, −0.72 ± 0.62D, −0.65 ± 0.47D in the SV group. One year after cessation of atropine treatment, myopia progression was − 0.32 ± 0.31D in A, −0.23 ± 0.28D in A + PAL, and −0.18 ± 0.35D in A + CL. CONCLUSION: Atropine 0.01% presented as effective at decelerating myopia progression, more prominent in the 2nd and 3rd years of treatment. Combining atropine 0.01% with optical modalities exhibited a trend for added efficacy over monotherapy. A + CL exhibited the least rebound effect 1 year after cessation of treatment

A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and 51 years and segregating in an autosomal recessive mode. Using microsatellite repeat markers in close proximity to 25 genes and loci previously associated with congenital cataracts in humans and mice, we identified five markers on chromosome 19q that cosegregated with the disease. Sequencing of LIM2, one of two candidate genes in this region, revealed a homozygous T→G change resulting in a phenylalanine-to-valine substitution at position 105 of the protein. To our knowledge, this constitutes the first report, in humans, of cataract formation associated with a mutation in LIM2. Studies of late-onset single-gene cataracts may provide insight into the pathogenesis of the more common age-related cataracts

Treatment of Rapid Progression of Myopia: Topical Atropine 0.05% and MF60 Contact Lenses

This retrospective study evaluates the effectiveness of combining 0.05% atropine with MF60 contact lenses in managing rapid myopia progression in children over one year. The study involved three groups: the treatment group (TG) with 15 children (53% male, average age 12.9 ± 1.04), the MF group (MF) with 12 children (50% male, average age 12.8 ± 0.8) using only MF60 lenses, and the control group (CG) with 14 children (43% male, average age 12.1 ± 0.76). Baseline myopia and axial length (AL) were similar across groups, with the TG, MF, and CG showing −4.02 ± 0.70 D, −4.18 ± 0.89 D, −3.86 ± 0.99 D, and 24.72 ± 0.73 mm, 24.98 ± 0.70 mm, 24.59 ± 1.02 mm, respectively. Prior to the study, all groups exhibited significant myopia and AL progression, with no previous myopia control management. The treatment involved daily 0.05% atropine instillation, the use of MF60 lenses and increased outdoor activity. Biannual cycloplegic refraction and slit lamp evaluations confirmed no adverse reactions. After one year, the TG showed a significant reduction in myopia and AL progression (−0.43 ± 0.46 D, p p p = 0.36; 0.65 ± 0.35 mm, p = 0.533). The MF group also exhibited a notable decrease (−0.74 ± 0.45 D, p < 0.01; 0.36 ± 0.23 mm). Increased outdoor activity during the treatment year did not significantly impact myopia control, suggesting its limited additional effect in this cohort. The study concludes that the combination of 0.05% atropine and peripheral defocus soft contact lenses effectively controls myopia progression in children

Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration

Purpose: To identify rare genetic variants in early age-related macular degeneration (AMD) utilizing whole-exome sequencing (WES). Methods: Eight non-related early-AMD families of different Jewish ethnicities were ascertained. Initial mutation screening (phase-1) included common complement factor-H (CFH) p.Y402H; and age related maculopathy susceptibility 2 (ARMS2) p.A69S; and rare variants complement factor-I (CFI) p.V412M; and hemicentin1 (HMCN1) c.4163delC identified previously in our population. Four families, whose initial screening for the aforementioned variants was negative, underwent WES (phase-2). Bioinformatics filtering was based on functionality (from a panel of 234 genes with proven or presumed association to AMD); predicted severity; and frequency (rare variants with minor allele frequency &lt;1%). When applicable, further screening for specific rare variants was carried out on additional cases of similar ethnicities and phenotypes (phase-3). Results: Phase-1 identified three families carrying CFI p.V412M mutation. WES analysis detected probable disease-related variants in three out of the remaining families. These included: a family with a variant in PLEKHA1 gene p.S177N; a family with previously reported variant p.R1210C in CFH gene; and two families with the C3 p.R735W variant. Conclusions: Rare, high-penetrance variants have a profound contribution to early-AMD pathogenesis. Utilization of WES in genetic research of multifactorial diseases as AMD, allows a thorough comprehensive analysis with the identification of previously unreported rare variants