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Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X‑linked recessive inheritance due to RS1 gene mutations. This study aims to uncover the RS1 mutation spectrum in a cohort of 22 X‑linked retinoschisis cases from South India and emphasizes the genotypic and phenotypic associations within patients harboring only RS1 mutations. Methods: A total of 22 probands were suspected of having X‑linked retinoschisis. All study subjects underwent ophthalmic investigations, including assessments of visual acuity, fundus examination, optical coherence tomography (OCT), and electroretinogram (ERG). RS1 gene screening was conducted using Sanger sequencing, and the pathogenicity of the variants was assessed through Sorting Intolerant from Tolerant (SIFT) and PolyPhen‑2 in silico tools. Results: The study found that the probands had an average visual acuity of 0.79 ± 0.39 log of minimum angle of resolution (logMAR), ranging from 0.17 to 1.77. During fundus examination, the probands exhibited a characteristic spoke wheel‑like pattern in the macular region. Furthermore, OCT analysis revealed distinct alterations in the inner retinal microstructure, and ERG results consistently showed a reduction in b‑wave amplitude. Eventually, Sanger sequencing results showed hemizygous mutations in the RS1 gene in only 12 probands, including a novel missense mutation in the RS1 gene’s signal sequence. Conclusion: This study provides valuable insights into the spectrum of RS1 mutations in X‑linked retinoschisis probands from South India. It reveals distinct genotypic–phenotypic associations and highlights the clinical manifestations associated with the disease pathogenesis. [ABSTRACT FROM AUTHOR]

Purpose: To analyze the incidence of rhegmatogenous retinal detachment (RRD) in patients who have undergone prior Aurolab aqueous drainage implant (AADI) surgery and report outcomes in terms of anatomic, visual acuity, and intraocular pressure (IOP) findings.Methods: Case records of all patients who underwent RRD repair after AADI surgery from 2013 to 2019 were retrospectively analyzed. Data collected included patient demographics, ocular examination findings at all visits including IOP and best-corrected visual acuity (BCVA) and clinical findings related to RRD both at baseline and postoperatively.Results: Ten eyes of nine patients were included in study. The mean age of patients was 28.2 years (median: 15 years, range: 6-83 years). Mean duration between AADI and RRD was 14 months (median 2.5 months; range 2 days-72 months). All eyes underwent pars plana vitrectomy with silicon oil injection. The preoperative LogMAR BCVA (logarithm of the minimum angle of resolution) was 2.52 ± 0.15 which improved to 2.29 ± 0.58 at final follow-up; however, only one eye had vision ≥ 20/400 largely due to recurrent RRD and advanced glaucomatous disc damage. Postoperatively retina was attached in 6 eyes (60%) and IOP was ≤ 21 mmHg in 5 out of 6 eyes with anatomic success.Conclusion: The incidence of RRD following AADI was found to be 0.86% in our study. Pars plana vitrectomy (PPV) with silicon oil tamponade was the preferred approach in the management of these eyes with IOP being well controlled post PPV. However, visual acuity outcomes were largely unsatisfactory due to recurrent RRD and preexisting advanced glaucoma. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate retinal functional changes after idiopathic macular hole (MH) surgery using heavy brilliant blue G (hBBG) dye for internal limiting membrane (ILM) staining.Methods: Forty-four eyes with idiopathic MH were randomized into two groups - 24 eyes undergoing vitrectomy with ILM peeling using hBBG staining and 20 eyes without staining; anatomical and functional status (with microperimetry (MP)) at baseline and during postoperative follow-up were noted and compared.Results: All eyes had closure of MH postoperatively and overall baseline MP indices (average threshold, AT; foveal sensitivity, FS) improved significantly at 6 weeks and 6 months of follow-up. AT and FS showed significant improvement at 6 weeks and 6 months from baseline in both individual groups (P < 0.001). Intergroup comparison showed that there was no statistically significant difference in AT and FS values at any point of time (baseline, 6 weeks, 6 months) between staining and no-stain group. No eyes in our cohort had any unexplained visual loss.Conclusion: Functional parameters of macula improved significantly after successful MH surgery using hBBG for staining the ILM. [ABSTRACT FROM AUTHOR]