To investigate the anatomic and functional outcomes using microperimetry for the surgical methods for idiopathic epiretinal membranes (ERM). This retrospective study included 41 eyes from 41 patients. All patients underwent combined epiretinal membrane and cataract surgery. Best-corrected visual acuity (BCVA), optical coherence tomography, and microperimetry were performed before and 6 months and 1 year after surgery. The patients were divided into 3 groups; "ERM removal only without indocyanine green (ICG) staining", "ERM and internal limiting membrane (ILM) removal without ICG staining", and "ERM and ILM removal with ICG staining". Preoperatively, the ages, BCVAs, central macular thickness (CMT), and mean retinal sensitivities of central 6° (MRSs) of the groups were not significantly different (p > 0.05). Postoperatively, the MRSs of the "ERM removal only without ICG staining" and "ERM and ILM removal without ICG staining" groups were not significantly different (p > 0.05). The MRSs of the "ERM and ILM removal without ICG staining" and "ERM and ILM removal with ICG staining" groups were not significantly different (p > 0.05). However, the MRSs of the "ERM and ILM removal with ICG staining" group significantly reduced than "ERM removal only without ICG staining" group (p < 0.05). This retrospective study found reduced retinal sensitivity in ERM and ILM removal with ICG staining group compared to ERM removal only without ICG staining. Further studies with larger sample sizes are required.

Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown. This study aims to expand knowledge on epilepsy associated with Cabezas syndrome and to understand whether different types of variants in the CUL4B gene or brain MRI abnormalities may influence seizure onset and epilepsy course. With this in mind, we characterised the epileptic phenotype of a 17-year-old adolescent harbouring a CUL4B novel variant and performed a systematic literature review of CUL4B-associated seizures, analysing mutation types and neuroimaging features as epilepsy predictors. Our case observation indicates that CUL4B-associated epilepsy may also be drug-resistant and persist beyond infancy. Literature analysis shows that 43% of CUL4B patients develop seizures, with no statistically significant differences in epilepsy development according to mutation type and neuroimaging features. Our study extends knowledge of CUL4B-associated epilepsy, offering new insights into disease progression.

Cullin 4B (CUL4B), lysosomal-associated membrane protein Type 2 (LAMP2), ATP1B4, TMEM255A, and ZBTB33 are neighboring genes on Xq24. Mutations in CUL4B result in Cabezas syndrome (CS). Male CS patients present with dysmorphic, neuropsychiatric, genitourinary, and endocrine abnormalities. Heterozygous CS females are clinically asymptomatic. LAMP2 mutations cause Danon disease (DD). Cardiomyopathy is a dominant feature of DD present in both males and heterozygous females. No monogenic phenotypes have been associated with mutations in ATP1B4, TMEM255A, and ZBTB33 genes. To facilitate diagnostics and counseling in CS and DD families, we present a female DD patient with a de novo Alu-mediated Xq24 rearrangement causing a deletion encompassing CUL4B, LAMP2, and also the other three neighboring genes. Typical to females heterozygous for CUL4B mutations, the patient was CS asymptomatic, however, presented with extremely skewed X-chromosome inactivation (XCI) ratios in peripheral white blood cells. As a result of the likely selection against CUL4B deficient clones, only minimal populations (~3%) of LAMP2 deficient leukocytes were identified by flow cytometry. On the contrary, myocardial LAMP2 protein expression suggested random XCI. We demonstrate that contiguous CUL4B and LAMP2 loss-of-function copy number variations occur and speculate that male patients carrying similar defects could present with features of both CS and DD.