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Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak-like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811-812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of our knowledge, the identification of two novel FGFR 2 gene mutations in Chinese patients with Crouzon syndrome.

OBJECTIVE To explore the expression profile of angiogenic factors associated with proliferative diabetic retinopathy (PDR). METHODS Undiluted vitreous humor samples were obtained from 10 diabetic patients with PDR (10 eyes) and 9 non-diabtic patients (9 eyes). The concentrations of 60 angiogenic factors in the vitreous humor samples were measured by RayBio Angiogenic Cytokine Antibody Array. Some differentially expressed factors were further confirmed in vitreous humor by enzyme-linked immunosorbent assay (ELISA). RESULTS Compared with the non-diabetic controls, 20 differentially expressed factors with more than 1.50 fold changes were detected in patients with PDR. The median concentration of vascular endothelial growth factor (VEGF), interleukin 6 (IL-6), angiopoietin (ANG)-1, ANG-2, urokinase-type plasminogen activator receptor (uPAR), Follistatin and matrix metalloproteinases 9 (MMP-9) was significantly increased in vitreous samples from PDR compared to controls (P < 0.05). However, (MCP)-1, Angiogenin and Leptin was significantly lower in PDR eyes compared to controls (P < 0.05). In the verification assay using ELISA, ANG-1, ANG-2, IL-6, VEGF, MMP-9, hepatocyte growth factor (HGF) and placenta growth factor (PIGF) concentration were increased in patients with PDR compared to controls (all P-values < 0.05). CONCLUSION This is the first report of a comprehensive multiplex analysis to identify angiogenic factors associated with PDR. These angiogenic factors may contribute to the pathogenesis of PDR and may be targets for therapeutic strategies of PDR.

The purpose of the current study was to investigate the 11 bestrophin-1 (BEST1) exons in patients with best vitelliform macular dystrophy (BVMD), and to characterize the associated clinical features. Complete ophthalmic examinations were conducted on two families, and two family members were diagnosed with BVMD. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the patients and their family members, in addition to 100 unrelated control subjects recruited from the same population. The polymerase chain reaction was used to amplify a total of 11 exons of the BEST1 gene, which were directly sequenced. Ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, fundus photography and fluorescein angiography imaging, as well as anterior segment analysis with Pentacam and optical coherence tomography, were conducted. The patients exhibited yellowish lesions in the macular area. A heterozygous mutation c.910_912delGAT (p.304del Asp) in exon 7 was identified in Case 1. A heterozygous BEST1 missense mutation c.685T>G (p.Trp229Gly) in exon 5 was identified in Case 2, but not in any of the unaffected family members or normal controls. Although BEST1 gene mutations and polymorphisms have previously been reported in various ethnic groups, the current study identified, for the first time to the best of our knowledge, two novel BEST1 gene mutations in patients with BVMD.

Background and objective Lens regeneration is an optimal strategy for cataract patients to regain visual acuity with accommodation. We recently designed a novel, minimally invasive capsulorhexis surgical method for cataract removal that achieved functional lens regeneration in human infants. However, small anterior capsulorhexis requires advanced surgical expertise. To examine whether the quality of the regenerated lens can be maintained with enlarged anterior capsulorhexis, we investigated the shape and transparency of the regenerated lenses with different anterior capsulorhexis diameters (ACDs). Methods Thirty-six 4-week-old New Zealand albino rabbits were randomly divided into three groups which underwent lens extraction with different ACDs (Group A: 2.0±0.5 mm, Group B: 4.0±0.5 mm, Group C: 6.0±0.5 mm). The anterior capsule opening area (ACOA) was quantified, and the morphology, weight, and histological characteristics of the regenerated lenses were examined. Results Lens regeneration was observed in all three groups. In Group A, the regenerated lenses were relatively complete and transparent. In Groups B and C, the regenerated lenses were doughnut-shaped and opaque. The speed of lens regeneration in Group A was significantly faster than that in Groups B and C. The ACOA in Group A healed quickly and completely approximately 2 weeks after surgery. However, in Groups B and C, ACOA did not heal completely until 12 weeks after surgery. Histological examination showed that in Group A, most of the lens epithelial cells differentiated into well-organized lens fibers. However, in Groups B and C, the regenerated lens fibers were disorganized. Conclusion Capsulorhexis size is a critical determinant of integrity and transparency in lens regeneration.

Purpose: The aim of this study was to determine the correlation factors and features of membranous outgrowth onto the anterior surface of hydrophobic acrylic intraocular lenses. Methods: This study included 145 eyes from 135 consecutive patients who had cataract surgery with implantation of a single-piece, foldable, hydrophobic acrylic intraocular lens. Postoperatively, the IOL optic was examined by slit-lamp microscopy at 1 week and1 month to determine the incidence, extent, and correlation factors of membranous proliferation. If MP was present, we re-examined the patient monthly to monitor the condition. The extent of this proliferation was assessed using a clock-face representation of the IOL optic as the number of hours in which membranous proliferation could be identified. Results: Twenty-four eyes were excluded from analysis and 121 remaining eyes were studied. Membranous proliferation was documented in 46 (38.02%) of the pseudophakic eyes. Furthermore, the incidence of membranous outgrowth was greater in pseudophakic eyes characterized by older age, shorter axial length and more serious anterior segment vitreous opacity. Membranous proliferation was greater in the inferior (35.11%) and nasal quadrants (33.51%) than in the superior and temporal quadrants (where the incisions were made). The total area of membranous proliferation was slightly less than one quadrant (56.52%). Conclusions: Shorter axial length, older age, serious anterior segment vitreous opacity, and the inferior and nasal quadrants are risk factors for membranous proliferation on the IOL surface. Appreciation of these risk factors may lead to establishing procedures that will lessen anterior capsule opacification and capsule contraction syndrome simultaneously.

The repair and regeneration of tissues using endogenous stem cells represents an ultimate goal in regenerative medicine. To our knowledge, human lens regeneration has not yet been demonstrated. Currently, the only treatment for cataracts, the leading cause of blindness worldwide, is to extract the cataractous lens and implant an artificial intraocular lens. However, this procedure poses notable risks of complications. Here we isolate lens epithelial stem/progenitor cells (LECs) in mammals and show that Pax6 and Bmi1 are required for LEC renewal. We design a surgical method of cataract removal that preserves endogenous LECs and achieves functional lens regeneration in rabbits and macaques, as well as in human infants with cataracts. Our method differs conceptually from current practice, as it preserves endogenous LECs and their natural environment maximally, and regenerates lenses with visual function. Our approach demonstrates a novel treatment strategy for cataracts and provides a new paradigm for tissue regeneration using endogenous stem cells.

Nature 531, 323–328 (2016); doi:10.1038/nature17181 In this Article, errors in the length of the scale bars were inadvertently introduced into Fig. 3e and Extended Data Fig. 7b. The corrected Fig. 3e is shown as Fig. 1 of this Corrigendum and the corrected Extended Data Fig. 7b is shown in the Supplementary Information to this Corrigendum (both of the corrected scale bars are now shorter).