In children born prematurely, the development of myopia is mainly influenced by anterior segment components, whereas hyperopia is mainly attributable to short AL. Astigmatism is primarily cornea-related. A combination of various optical components results in complicated refractive outcomes. The presence of ROP may be associated with significantly shorter ACD, thicker lens, and higher myopia and astigmatism. (ClinicalTrials.gov number, NCT01045616.).
Preservation of the foveolar cone by foveola nonpeeling surgery correlates with better anatomical and visual results than total peel, prevents long-term foveolar retinal thinning, and successfully saves the fovea from macular hole formation.
Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.
In idiopathic cases, vitreo-foveal traction with foveal detachment may lead to FHMH, while inner cysts only without foveal detachment seem tend to evolve into LH instead of FHMH. Furthermore, LH may develop into FTMH.
Leber’s congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. With advances in molecular diagnostic technology, the knowledge about the genetic background of LCA has expanded widely, while disease-causing variants have been identified in 38 genes. Different pathogenetic mechanisms have been found among these varieties of genetic mutations, all of which result in the dysfunction or absence of their encoded proteins participating in the visual cycle. Hence, the clinical phenotypes also exhibit extensive heterogenicity, including the course of visual impairment, involvement of the macular area, alteration in retinal structure, and residual function of the diseased photoreceptor. By reviewing the clinical course, fundoscopic images, optical coherent tomography examination, and electroretinogram, genotype-phenotype correlations could be established for common genetic mutations in LCA, which would benefit the timing of the diagnosis and thus promote early intervention. Gene therapy is promising in the management of LCA, while several clinical trials are ongoing and preliminary success has been announced, focusing on RPE65 and other common disease-causing genes. This review provides an update on the genetics, clinical examination findings, and genotype-phenotype correlations in the most well-established causative genetic mutations of LCA.
The protective effects of antioxidant agents indicate that MOX, similar to BAC, causes oxidative stress-related cell damage. The results also inspired us to think about a "supplementary regimen" to increase safety and decrease the adverse effect in the treatment of corneal infections.
Purpose: To investigate the presence and clinical relevance of hyperreflective foci (HRFs) in retinitis pigmentosa.Methods: Seventy seven retinitis pigmentosa cases were retrospectively reviewed. The 10-mm wide cross-line macular scans in optical coherence tomography were acquired. Hyperreflective foci were classified according to the location in optical coherence tomography: outer layers within the macula (HRF-outer-central), macular border beyond the central 3 mm (HRF-outer-perifoveal), and choroid (HRF-choroidal). The visual acuity at baseline, at 12 months, and other fundus characteristics were collected.Results: The mean logMAR best-corrected visual acuity decreased from 0.59 ± 0.66 (20/ 78 in Snellen) to 0.74 ± 0.81 (20/106 in Snellen) in 1 year. Sixty-six (42.9%), 105 (68.2%), and 98 (63.6%) eyes were classified to HRF-outer-central, HRF-outer-perifoveal, and HRFchoroidal group, respectively. Hyperreflective foci were positively correlated with poorer vision, central macular thinning, and ellipsoid zone disruption (all P , 0.001). Worse vision was associated with older age, macular involvement, and the coexistence of two or three HRF groups (P = 0.014, 0.047, 0.019, ,0.001, respectively). Hyperreflective foci developed more frequently in patients with thick choroid than in those with thin choroid. The coexistence of three HRF groups was correlated with quicker visual deterioration (P = 0.034).Conclusion: Hyperreflective foci are common in retinitis pigmentosa and can be a negative prognostic indicator of macular thickness and visual preservation. Thick choroid was associated with all groups of HRFs, especially HRF-choroidal.RETINA 42:388-395, 2022 R etinitis pigmentosa (RP) has a prevalence of approximately 0.025% and is considered as the most common phenotype of inherited retinal diseases. 1 This heterogeneous disease has different inherited patterns and has been linked to nearly 130 genes (https:// sph.uth.edu/retnet/disease.htm, until June, 2021), which lead to dysfunction and subsequent death of rod and cone photoreceptors. In addition to the damage to photoreceptors, cases with RP also present with degeneration of retinal pigment epithelium (RPE), vessel attenuation, and choroidal atrophy. 1 Diagnosis of RP is based on examinations such as fundus photography and electroretinogram, which reveal morphological and functional defects. Molecular confirmation of RP is based on genetic tests. The natural course includes night blindness, visual field constriction, decreased visual acuity, and, eventually, permanent loss of vision. The progression rate was variable among patients, although a relatively slow pace of From the
Neural tissue engineering has emerged as a promising technology to cure neural damages. Although various synthetic polymers with good biocompatibility and biodegradability have been adopted as candidate materials for scaffolds, most of them require the incorporation of biomolecules or conductive materials to promote the growth of long axons. Herein we demonstrate for the first time a unique peptide-based polyelectrolyte that is ionically conductive and contains a neurotransmitter, glutamic acid. The designed polymer, sodium salt of poly(γ-benzyl-L-glutamate)-r-poly(L-glutamic acid) (PBGA20-Na), was synthesized and fabricated into a 3D fibrous scaffold with aligned fibers. Neuron-like rat pheochromocytoma (PC12) cells were cultured on the scaffolds to evaluate cell proliferation and differentiation with or without electrical stimulation. The results show that with both electrical and biochemical cues presented in the polyelectrolyte, PBGA20-Na promotes longer neurite outgrowth compared with the neutral poly(γ-benzyl-L-glutamate) (PBG) and the poly(γbenzyl-L-glutamate)-r-poly(L-glutamic acid) (PBGA20). Furthermore, the neurite length of the cells cultured on PBGA20-Na is more than twice as long compared with the conventional biopolymer, polycaprolactone. In conclusion, PBGA20-Na is a promising biomaterial for neural tissue engineering and drug-screening platforms.
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