Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an autosomal-recessive syndrome characterized by high myopia and sensorineural deafness. Our molecular investigation in 3 families led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SLIT and NTRK-like family, member 6 (SLITRK6), a leucine-rich repeat domain transmembrane protein. All 3 mutant SLITRK6 proteins displayed defective cell surface localization. High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Additionally, mutant mice exhibited auditory function deficits that mirrored the human phenotype. Histological investigation of WT and Slitrk6-deficient mouse retinas in postnatal development indicated a delay in synaptogenesis in Slitrk6-deficient animals. Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness.

Several factors are involved in the development of post-cataract ptosis. Temporary ptosis may be related to the myotoxicity of the local anesthetic. The presence of ptosis on the first postoperative day is the best predictor for the development of ptosis at six months.

Purpose: The aim of this study is to compare the outcomes of micropulse transscleral cyclophotocoagulation between primary open-angle glaucoma, pseudoexfoliation glaucoma, and other types of secondary glaucoma. Methods: Outcomes of 96 consecutive patients with refractory, end-stage glaucoma treated with micropulse transscleral cyclophotocoagulation were retrospectively reviewed. Follow-up examinations were performed on a regular basis until 12 months postoperatively. Surgical successes were defined as maintaining intraocular pressure ⩽18 mmHg and ⩾20% reduction in intraocular pressure (criteria A), ⩽15 mmHg intraocular pressure and ⩾25% reduction in intraocular pressure (criteria B), and ⩽12 mmHg intraocular pressure and ⩾30% reduction in intraocular pressure from baseline (criteria C). Results: Ninety-six eyes of 96 patients (50 (52%) females, 46 (48%) males) were included. Among all eyes, 32 were primary open-angle glaucoma, 30 were pseudoexfoliation glaucoma, and 34 were other types of secondary glaucoma. The mean age was 59.37 ± 11.45 (range: 20–91) years. The mean follow-up period was 14.2 ± 3.9 (range: 12–16) months. At 12 months, the success rates of primary open-angle glaucoma, pseudoexfoliation glaucoma, and secondary glaucoma group were 68.75%, 66.6%, and 64.7% (p = 0.185) for criteria A; 56.25%, 53.3%, and 50% (p = 0.153) for criteria B; and 43.75%, 43.3%, and 38.2% (p = 0.146) for criteria C. Four patients (12.5%) in primary open-angle glaucoma group, 5 patients (16.6%) in pseudoexfoliation glaucoma group, and 14 (41.2%) patients in other secondary glaucoma group required reoperation during the follow-up (p < 0.05). Conclusion: Micropulse transscleral cyclophotocoagulation is an equally effective method of lowering intraocular pressure in patients with primary open-angle glaucoma, pseudoexfoliation glaucoma, and other types of secondary glaucoma. The rate of reoperation was higher in refractory secondary glaucoma patients.

No abstract

Aim To investigate and compare the surgical outcomes of limbal autograft and limbal allograft transplantations in patients with corneal burns. Methods In total, 20 patients (n ¼ 22 eyes) with chemical burn and two patients (n ¼ 2 eyes) with thermal burn were included in this study. Limbal autograft or limbal allograft transplantation surgery was performed in all patients. HLA-typing was tested before allograft surgeries. Limbal allografting was performed in all eyes using donor tissue from live relatives. Systemic cyclosporine A was administered for immunosuppression. Results The corneal surface was successfully reconstructed in all eyes (100%) after limbal autografting, two eyes required additional amniotic membrane transplantation and one eye required allografting. The mean follow-up period for limbal autografts was 13.977.0 months. Limbal allografting failed to reduce corneal vascularity and opacification in five (55.6%) eyes and was successful only in four (44.4%) eyes (mean follow-up 16.2711.2 months) (P ¼ 0.002). In all, 15 eyes undergoing limbal autografting completed reepithelialization of the cornea at a mean of 35.6760.2 days. The mean epithelial healing time in nine eyes undergoing limbal allografting was 13.077.3 days (P ¼ 0.525). After limbal autografting, functional vision (Z1/10) was attained in 12 (80%) eyes. Only one eye (11.1%) achieved functional vision after limbal allografting (P ¼ 0.036). Penetrating keratoplasty was performed in three patients following limbal allografting. No cyclosporine-associated side effects were observed. Conclusions Limbal autograft transplantation is an effective and safe procedure for unilateral corneal burns.It seems that limbal allograft transplantation is better combined with penetrating keratoplasty for a better visual outcome and higher graft survival rate. Systemic immunosuppression seems to be necessary for limbal allografts even in the presence of HLA-matched donor tissues.