Inner retinal defects frequently occurred after idiopathic MH surgery when ILM was peeled. To the authors' knowledge, this feature has not been previously reported using an en face SD-OCT imaging, and it consisted of numerous CMDS in the same direction of the optic nerve fibers. All patients in the study showed this typical OCT pattern 3 months after surgery. Thus, the authors suggest that this is a helpful, noninvasive technique to assess complete ILM removal in FTMH surgery if CMDS appearance on the retinal surface is reported.

Combined pars plana vitrectomy and macular buckling is an effective approach to treat myopic foveoschisis with both anatomical and visual improvement. Despite a similar complication rate with both buckling techniques, macular buckling with the Ando plombe was found to be technically easier with shorter surgical times.

In truncating BEST1 mutations, the null phenotype associated with ARB is attributed to a substantial decrease of BEST1 expression promoted by the nonsense-mediated decay (NMD) surveillance mechanism. Moreover, the severity of the phenotype increases with the preserved amount of altered transcript, suggesting that the clinical outcome reflects the combined null and dominant negative effects of the two mutations over the patient's genetic background.

Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exome sequencing (WES) for the molecular diagnosis of IRD. Using Ion ProtonTM system, we simultaneously analyzed 212 genes that are responsible for more than 25 syndromic and non-syndromic IRD. This approach was used to evaluate 59 unrelated families, with the pathogenic variant(s) successfully identified in 71.18% of cases. Interestingly, the mutation detection rate varied substantially depending on the IRD subtype. Overall, we found 63 different mutations (21 novel) in 29 distinct genes, and performed in vivo functional studies to determine the deleterious impact of variants identified in MERTK, CDH23, and RPGRIP1. In addition, we provide evidences that support CDHR1 as a gene responsible for autosomal recessive retinitis pigmentosa with early macular affectation, and present data regarding the disease mechanism of this gene. Altogether, these results demonstrate that targeted WES of all IRD genes is a reliable, hypothesis-free approach, and a cost- and time-effective strategy for the routine genetic diagnosis of retinal dystrophies.

Minimum diameter and HFF are strongly correlated with postoperative visual outcomes in cases of MMH. Since analyzing MH configuration seems to improve the anatomical success rate after vitreous surgery in highly myopic patients, these parameters should be preoperatively evaluated by SD-OCT.