Anatomical and functional results of ILM peeling vs. non-peeling in macula-off rhegmatogenous retinal detachment.

PURPOSE: To compare anatomical and functional results between internal limiting membrane (ILM) peeling and non-ILM peeling in macula-off rhegmatogenous retinal detachment (RRD). METHODS: We completed a retrospective cohort study of patients who underwent pars plana vitrectomy (PPV) due to macula-off RRD. ILM peeling (P) versus non-ILM peeling (NP) groups were compared regarding best-corrected visual acuity (BCVA), anatomical success, endotamponade, concomitant scleral band placement and BCVA gain for epiretinal membranes (ERM) resubjected to PPV. Statistical significance was considered when p < 0.05. RESULTS: PPV was conducted in 352 patients, among which 43.5% (n = 153) were in the P group and 55.6% (n = 196) were in the NP group. Both groups had significant BCVA improvement during the study period (p < 0.001), but with no significant difference between them. Anatomical success was similar between P (84.2%) and NP (87.2%) groups. No difference was found with regard to endotamponade (p = 0.07) or concomitant scleral band placement (p = 0.43). The NP group developed subsequent ERM more frequently (p = 0.004), but BCVA gains for eyes requiring repeat PPV for ERM were not found (p = 0.14). CONCLUSIONS: Although ERM formation and greater anatomical success are reasons to support the use of ILM peeling in RRD, we did not observe any anatomical or functional difference regarding ILM peeling or functional gain with secondary ERM peeling.

Internal limiting membrane translocation for refractory macular holes.

BACKGROUND/AIMS: Closure is more difficult to achieve in macular holes that remain open following a previous unsuccessful pars plana vitrectomy (PPV). We present our results with the internal limiting membrane (ILM) translocation technique that is used to optimise outcomes in refractory macular holes. METHODS: A prospective, interventional, case series was conducted. 12 eyes of 12 consecutive patients with incomplete sealing of the macular hole (open and type 2 closure) after a previous PPV with ILM peeling were included. Measured baseline parameters included best-corrected visual acuity (BCVA) and macular hole smallest diameter, base diameter and height. Surgeries were performed by harvesting a fragment of the ILM near the vascular arcades and subsequently placing it inside the hole. Postoperative measured outcomes included macular hole status, foveal contour, outer retina integrity, BCVA and surgery-related complications. RESULTS: Anatomic closure occurred in 11 of 12 eyes (91%). This technique elicited a statistically significant improvement in BCVA (p=0.008). Mean BCVA was 20/400 at study baseline and 20/160 at final follow-up. However, less than 16.7% of cases had a final BCVA of ≥20/63. CONCLUSION: The ILM translocation technique seems to facilitate persistent idiopathic macular hole closure, where primary surgery with PPV and ILM peeling failed.

A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.

BACKGROUND: Enhanced S-cone syndrome (ESCS) is an autosomal recessive retinal disorder characterized by an increased number of S-cones over L/M cones and rods. Mutations in the NR2E3 gene, encoding a photoreceptor-specific nuclear receptor, are identified in patients with ESCS. The purpose of this study is to report the ophthalmic features of a 25-year-old Portuguese male with a typical ESCS phenotype and a novel homozygous NR2E3 mutation. METHODS: The patient underwent a detailed ophthalmic examination including fundus photography, fluorescein angiography (FAF), fundus autofluorescence imaging (FAI), and spectral domain optical coherence tomography (SD-OCT). Full-field electroretinography (ERG), S-cone ERG, and multifocal ERG were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction amplification and direct sequencing. RESULTS: The patient had poor visual acuity but good color vision. Funduscopy showed degenerative changes from the vascular arcades to the midperipheral retina. The SD-OCT revealed macular schisis and cystoid changes that had no fluorescein leakage. The posterior pole showed diffusely increased autofluorescence compared with eccentric areas in both eyes. International-standard full-field ERG showed the typical pathognomonic changes associated with ESCS and the short-wavelength flash ERG was simplified, delayed, and similar to the standard photopic flash ERG. Multifocal ERG showed widespread delay and reduction. Genetic analysis revealed a novel homozygous mutation (p.C83Y), which resides in the second zinc finger of the DNA-binding domain. CONCLUSIONS: This homozygous mutation is likely to affect binding to target DNA sites, resulting in a non-functional behavior of NR2E3 protein. It is associated with a typical form of ESCS with a nondetectable rod response and reduced/delayed mfERG responses at all eccentricities.