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Perceptual learning (PL) has shown promise in enhancing residual visual functions in patients with age-related macular degeneration (MD), however it requires prolonged training and evidence of generalization to untrained visual functions is limited. Recent studies suggest that combining transcranial random noise stimulation (tRNS) with perceptual learning produces faster and larger visual improvements in participants with normal vision. Thus, this approach might hold the key to improve PL effects in MD. To test this, we trained two groups of MD participants on a contrast detection task with (n = 5) or without (n = 7) concomitant occipital tRNS. The training consisted of a lateral masking paradigm in which the participant had to detect a central low contrast Gabor target. Transfer tasks, including contrast sensitivity, near and far visual acuity, and visual crowding, were measured at pre-, mid and post-tests. Combining tRNS and perceptual learning led to greater improvements in the trained task, evidenced by a larger increment in contrast sensitivity and reduced inhibition at the shortest target to flankers' distance. The overall amount of transfer was similar between the two groups. These results suggest that coupling tRNS and perceptual learning has promising potential applications as a clinical rehabilitation strategy to improve vision in MD patients.

Macular degeneration (MD), a retinal disease affecting central vision, represents the leading cause of visual impairment in the Western world, and MD patients face severe limitations in daily activities like reading and face recognition. A common compensation strategy adopted by these patients involves the use of a region in the spared peripheral retina as a new fixation spot and oculomotor reference (preferred retinal locus, or PRL). Still, peripheral vision is characterized by poorer visual acuity, fixation stability, and larger crowding zones that further hinder processes like object recognition, visual search, and reading. Perceptual learning (PL) has been successfully used to improve visual acuity in mild visual conditions (e.g., presbyopia, amblyopia and myopia), but results in MD are less clear, often showing limited generalization of learning, unlike what is observed in a healthy population. A possible reason is the suboptimal fixation in the PRL that might prevent patients from processing the briefly presented training stimuli. Following this hypothesis, we trained five MD patients and four age- and eccentricity-matched controls with a protocol that combined contrast detection and a task previously used to train fixation stability. Results showed transfer of learning to crowding reduction, reading speed, and visual acuity in both MD patients and controls. These results suggest that in the case of central vision loss, PL training might benefit from the integration of oculomotor components to optimize the effect of training and promote transfer of learning to other visual functions.

Macular degeneration (MD) affects central vision and represents the leading cause of visual diseases in elderly population worldwide. As a consequence of central vision loss, MD patients develop a preferred retinal locus (PRL), an eccentric fixation point that replaces the fovea. Here, our aim was to determine whether and to what extent spontaneous plasticity takes place in the cortical regions formerly responding to central vision and whether a visual training based on perceptual learning (PL) can boost this plasticity within the PRL area. Spontaneous and PL-induced cortical plasticity were characterized by using lateral masking, a contrast sensitivity modulation induced by collinear flankers. This configuration is known to be sensitive to neural plasticity and underlies several rehabilitation trainings. Results in a group of 4 MD patients showed that collinear facilitation was similar to what observed in age- and eccentricity-matched controls. However, MD patients exhibited significantly reduced collinear inhibition, a sign of neural plasticity, consistent with the hypothesis of partial cortical reorganization. Three AMD patients from the same group showed a further reduction of inhibition after training, but not controls. This result suggests that PL might further boost neural plasticity, opening promising perspectives for the development of rehabilitation protocols for MD patients.

Age related macular degeneration (AMD) is a visual disease that affects elderly population. It entails a progressive loss of central vision whose consequences are dramatic for the patients quality of life. Current rehabilitation programs are restricted to technical aids based on visual devices. They only temporarily improve specific visual functions such as reading skills. Considering the rapid increase of the aging population worldwide, it is crucial to intensify clinical research on AMD in order to develop simple and efficient methods that improve the patients visual performances in many different contexts. One very promising approach to face this challenge is based on perceptual learning (PL). Through intensive practice, PL can induce neural plasticity in sensory cortices and result in long-lasting enhancements for various perceptual tasks in both normal and visually impaired populations. A growing number of studies showed how appropriate PL protocols improve visual functions in visual disorders, namely amblyopia, presbyopia or myopia. In order to successfully apply these approaches to more severe conditions such as AMD, numerous challenges have to be overcome. Indeed, the overall elderly age of patients and the reduced cortical surface that is devoted to peripheral vision potentially limit neural plasticity in this population. In addition, ocular fixation becomes much less stable because patients have to rely on peripheral fixation spots outside the scotoma whose size keeps on evolving. The aim of this review article is to discuss the recent literature on this topic and to offer a unified approach for developing new rehabilitation programs of AMD using PL. We argue that with an appropriate experimental and training protocol that is adapted to each patient needs, PL can offer fascinating opportunities for the development of simple, non-expensive rehabilitation approaches a large spectrum of visual functions in AMD patients.

Purpose: To evaluate the surgical management, outcomes and prognostic factors of full thickness macular holes without residual internal limiting membrane (NO-ILM FTMHs). Methods: We performed a multicenter, retrospective study of 116 NO-ILM FTMHs. Human amniotic membrane (hAM) plug, autologous ILM free flap transplantation (AILMT), and autologous retinal graft transplantation (ART) were performed in 58, 48, and 10 patients, respectively. Data were collected before and up to 12 months after surgery. The primary outcomes were hole closure and final best-corrected visual acuity (BCVA). Results: The final BCVA (0.78 ± 0.51 logMAR) was significantly better than and correlated with the initial BCVA (p < 0.0001 and p = 0.004, respectively). Hole closure was achieved in 92% of eyes. The minimum FTMH diameter was wider and final BCVA was lower in the ART group than in the other groups (p < 0.003 and p < 0.001, respectively). FTMHs with diameter > 680 μm had a higher closure rate with hAM than with AILMT (p = 0.02). Conclusions: AILMT and hAM were the most frequently performed surgeries with both high closure rate and significant functional improvement. Preoperative BCVA was correlated with final BCVA. The minimum FTMH diameter may guide the treatment choice. [ABSTRACT FROM AUTHOR]

Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development. [ABSTRACT FROM AUTHOR]