Rabbit Anti-Human ABCA4 Polyclonal Antibody

Purpose: to evaluate the effect of biofeedback (BF) rehabilitation on the visual function and on the activity of primary visual cortex (PVC) in patients with Stargardt's disease owing to mutations in the ABCA4 gene (STGD1). Methods: This was a single-center, controlled, randomized study. Twenty-four patients with STGD1 were randomized into two groups: a treatment group (TG) undergoing BF rehabilitation and a control group (CG). Treatment with BF consisted of a 10-minute session per eye performed weekly for 12 weeks. The subjects underwent a baseline and 3-month follow-up visits, including best-corrected visual acuity (BCVA), reading test, microperimetry, and functional magnetic resonance imaging (fMRI). The fMRI studies were acquired sequentially using a passive viewing condition and an active reading task. The primary outcomes were the change in the fMRI activation of primary visual cortex and the change in reading ability. Results: After treatment, the patients in the TG were able to read smaller characters (P = 0.002) with a greater reading speed (P = 0.014) compared with patients in the CG. The fMRI studies showed a significant effect (P < 0.001) of BF on primary visual cortex activation in the TG compared with the CG. Finally, we observed significant (P < 0.05) improvements of best-corrected visual acuity, macular sensitivity, and fixation stability parameters in the TG compared with the CG. Conclusions: Our study showed that visual rehabilitation using BF improved the usage of residual visual function in patients with STGD1. Translational Relevance: Our findings show that the BF treatment compared with no treatment at all resulted in benefits. The specificity of the treatment could be examined to determine whether BF can be included in clinical practice.

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically and genetically, which complicates the identification of causative genes and mutations. Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP. In our study, an in-house gene panel comprising 75 known RP genes was used to analyze a cohort of 47 unrelated Spanish families pre-classified as autosomal recessive or isolated RP. Disease-causing mutations were found in 27 out of 47 cases achieving a mutation detection rate of 57.4%. In total, 33 pathogenic mutations were identified, 20 of which were novel mutations (60.6%). Furthermore, not only single nucleotide variations but also copy-number variations, including three large deletions in the USH2A and EYS genes, were identified. Finally seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis.