Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error : the CREAM consortium

Peer reviewe

The genetics of myopia

Myopia is the most common eye condition worldwide and its prevalence is increasing. While changes in environment, such as time spent outdoors, have driven myopia rates, within populations myopia is highly heritable. Genes are estimated to explain up to 80% of the variance in refractive error. Initial attempts to identify myopia genes relied on family studies using linkage analysis or candidate gene approaches with limited progress. More genome-wide association study (GWAS) approaches have taken over, ultimately resulting in the identification of hundreds of genes for refractive error and myopia, providing new insights into its molecular machinery. These studies showed myopia is a complex trait, with many genetic variants of small effect influencing retinal signaling, eye growth and the normal process of emmetropization. The genetic architecture and its molecular mechanisms are still to be clarified and while genetic risk score prediction models are improving, this knowledge must be expanded to have impact on clinical practice

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP x education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P <8.5 x 10(-5)), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia.Peer reviewe

Supplementary Material for: Solitary clear cell renal cell carcinoma metastasis to the eyelid: a case report

Introduction A case of solitary clear cell renal carcinoma (ccRCC) eyelid metastasis in a 66-year-old man as the first sign of a primary tumor. ccRCC usually spreads to the lungs, mediastinum, bones, liver and brain, while ocular metastases are rare. Case presentation Solitary metastasis presented as a solid mass in the central third of the upper eyelid, which has been growing for 3 weeks. Treatment included tumor removal and blepharoplasty. Histopathological examination showed metastasis of clear cell renal carcinoma. A thorough examination revealed a primary tumor on the lower pole of the right kidney. A right nephrectomy was performed, and histopathology showed ccRCC. Postoperative examinations showed no signs of local or systemic disease. Sunitinib malate was administered to the patient. Conclusion The eyelid metastasis in this case was still solitary and had been discovered before the existence of the primary tumor was known. Ocular metastasis of renal carcinoma is a rare initial manifestation of the disease and therefore require a multidisciplinary approach in the treatment of these patients

Surgical results of pars plana vitrectomy combined with phacoemulsification

Objectives: To evaluate the technical feasibility, safety, outcome, and incidence of complications after combined clear corneal phacoemulsification (PEA) with intraocular lens (IOL) implantation and vitreoretinal surgery. Methods: Combined operations of PEA and PPV were performed on 52 eyes of 52 patients with cataract and vitreoretinal diseases. Results: The mean follow-up time was (10.3±2.8) months. Postoperatively, visual acuity improved in 46 eyes (88.5%); was unchanged in 6 eyes (11.5%). The best-corrected visual acuities (BCVAs) were the following: 20/40 or better (9 eyes), 20/50 to 20/100 (24 eyes), 20/200 (5 eyes), 20/400 (10 eyes), and fingers counting (FC) to light perception (LP) (4 eyes). In 38 eyes BCVA was 20/200 or better, and in 9 eyes it was 20/40 or better postoperatively. Postoperative complications included posterior capsual opacification (7 eyes); secondary glaucoma (1 eye); and retinal detachment (2 eyes). Conclusion: Although further studies are indicated, our study suggests that the combined operation of PPV, PEA and IOL implantation is safe and effective for patients. The visual outcome and complications depended primarily on underlying posterior segment pathology and were not related to the combined procedure technique