An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.

BACKGROUND: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations. CASES PRESENTATION: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed. CONCLUSIONS: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.

Anatomical and Functional Effects of Oral Administration of Curcuma Longa and Boswellia Serrata Combination in Patients with Treatment-Naïve Diabetic Macular Edema.

Anti-vascular endothelial growth factor nowdays represents the standard of care for diabetic macular edema (DME). Nevertheless, the burden of injections worldwide has created tremendous stress on the healthcare system during the COVID-19 pandemic. The aim of this study was to investigate the effects of the oral administration of Curcuma longa and Boswellia serrata (Retimix®) in patients with non-proliferative diabetic retinopathy (DR) and treatment-naïve DME < 400 µm, managed during the COVID-19 pandemic. In this retrospective study, patients were enrolled and divided into two groups, one undergoing observation (Group A, n 12) and one receiving one sachet a day of Retimix® (Group B, n 49). Best-corrected visual acuity (BCVA) and central macular thickness (CMT) measured by spectral-domain optical coherence tomography were performed at baseline, then at one and six months. A mixed-design ANOVA was calculated to determine whether the change in CMT and BCVA over time differed according to the consumption of Retimix®. The interaction between time and treatment was significant, with F (1.032, 102.168) = 14.416; η2 = 0.127; p < 0.001, indicating that the change in terms of CMT and BCVA over time among groups was significantly different. In conclusion, our results show the efficacy of Curcuma longa and Boswellia serrata in patients with non-proliferative DR and treatment-naïve DME in maintaining baseline CMT and BCVA values over time.

Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.

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.