PurposeThis study was designed to evaluate the molecular genetics of a Chinese family with Bardet-Biedl syndrome (BBS).MethodsAll the family members underwent medical history evaluation, ophthalmologic and physical examinations. Whole exome sequencing was performed on two affected individuals and their parents. All variants were verified in all family members by PCR amplification and Sanger sequencing.ResultsPatients in this family were diagnosed as Bardet-Biedl syndrome, with an inheritance pattern of autosomal recessive. Compound heterozygous mutations of the FBN3 gene (c.3616G>A and c.6037C>T) were identified by whole exome sequencing. Results from Sanger sequencing showed co-segregation of these compound heterozygous mutations in the FBN3 gene with BBS disease in the family.ConclusionNovel compound heterozygous mutations c.3616G>A and c.6037C>T of FBN3 were identified in all affected individuals but not in the unaffected family members. This is the first time to the best of our knowledge, that the FBN3 gene is involved in the pathogenesis of BBS. This study will expand our understanding about the gene spectrum related to this genetically heterogeneous disorder.

Purpose: An anatomical and histological study of the conjoint fascial sheath of the levator and superior rectus (CFS) was carried out by using the cadavers for teaching. Methods: Three adult Asian cadaver heads fixed in formalin were used. The CFS was exposed by the same surgeon in each case. Then the CFS was observed and measured in vivo and ex vivo. And the CFS, the levator and the frontal muscle were removed from the same eye for histological study. Results: The CFS was located 2.1 ± 0.4 mm posterior to the fornix. A special muscle sheath of the levator was observed. The special muscle sheath and the tendon of the superior rectus were fused to the CFS through loose connective tissue. Hematoxylin-Eosin (HE) staining showed a large amount of connective tissue on examination of the CFS by microscopy. Double staining with Victoria-blue and Masson trichrome staining confirmed elastic fibers and collagen fibers in the CFS tissues. Conclusions: If ptosis correction surgery is performed by looking for the CFS from the upper edge of the conjunctiva, in fact, only a special part of the muscle sheath of the levator in the CFS, but not the integral CFS, is used in the surgery. The histological results confirm that the CFS is a fibrous tissue membrane with both elasticity and toughness. Perhaps the best choice is to recombine the special muscle sheath of the levator in the CFS with the levator muscle tissue during ptosis correction surgery to suspend the eyelids.

<b><i>Background:</i></b> High myopia (HM) is a risk factor for several pathological structural changes in retinal and choroidal thickness or vessel. To date, changes in retinal and choroidal microvasculature circulations in HM have yielded inconsistent results. <b><i>Objectives:</i></b> The objective of this article was to evaluate alterations in retinal and choroidal thickness, and capillary microvasculature using optical coherence tomography angiography (OCTA) in HM. <b><i>Methods:</i></b> PubMed, Embase, and the Cochrane Library databases were searched for relevant published studies. Primary outcomes were foveal avascular zone, vessel density, retinal nerve fiber layer (RNFL) thickness, foveal thickness, sub-foveal choroidal thickness, and chorio-capillary density. Alterations in outcomes were evaluated by standardized mean difference with a 95% confidence interval. <b><i>Results:</i></b> Eleven eligible articles were included for the meta-analysis. The whole superficial and deep vessel densities of macular and parapapillary superficial vessel density were lower in HM than in control eyes. The thickness of parafoveal RNFL, parapapillary RNFL, and sub-foveal choroid was significantly lower in HM eyes. Also, chorio-capillary density was shown to be lower in HM eyes. <b><i>Conclusions:</i></b> The retinal and choroidal vessel network change may be related to the axial elongation in the progression of myopia. Furthermore, OCTA is an effective and noninvasive technology for monitoring the progress of myopia eyes.

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Background Existing evidence suggests that visual field defect in eyes with glaucoma significantly varies between individuals. The following study compared the central visual field defects with the peripheral visual field defects in patients with suspect glaucoma and primary open-angle glaucoma (POAG) and investigated whether using the central visual field test alone could result in loss of clinically valuable information. Methods In this prospective observational study, 167 eyes from 89 patients with suspect glaucoma or POAG were first examined with static automated perimetry (SAP), followed by a peripheral visual field test on Octopus 900 perimeter (Haag-Streit, Koeniz, Switzerland). The peripheral visual field test was performed by “Auto Kinetic Perimetry” program, in which Goldmann III4e stimuli randomly moved along 16 vectors at a constant angular velocity of 5 deg/s. Results Glaucomatous peripheral visual field defects were seen in 18% of the eyes with a normal central visual field. In addition, 86% of glaucoma patients with moderate-to-severe central visual field defects had corresponding peripheral visual field defects in the form of localized or diffuse depression of the isopters. Furthermore, a moderate correlation was found between the central and peripheral visual fields. The median test duration was 71 s for the peripheral test and 803 s for the central test (p < 0.001). Conclusions Our study demonstrated the diversity of glaucomatous visual field defects, as well as the possibility of losing the clinically valuable information due to focusing on the central visual field test alone. The peripheral kinetic perimetry is clinically feasible to complement the central static perimetry for a comprehensive assessment of visual function in glaucoma patients.

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Background: As an increasing age-related eye disease, age-related macular degeneration (AMD) is becoming a common cause of irreversible visual loss in elder population. The mechanism of AMD remains uncertain and covers a complex risk factors. Choroidal vascularity index (CVI) is a sensitive parameter obtained by enhanced depth imaging of optical coherence tomography which allows the choroid in more detail and accurate assessment in the pathogenesis of AMD. The objective of this current study is to evaluate choroidal structural alternations measured by CVI in AMD. Methods: We will review 4 English databases (PubMed, Embase, Cochrane Library, and Web of Science) from their inception until present to select eligible articles. English-language and case–control studies will be accepted. The data extraction content and quantitative analysis will be performed systematically by 2 independent authors. The primary outcome is the alternation of CVI in AMD. The secondary outcomes consist of choroidal thickness (CT), luminal area (LA), stromal area (SA), and total choroidal area (TCA). Subgroup analysis, sensitivity analysis, and publication bias will be performed to check the robustness of the pooled outcome data. Results: Changes of quantitative parameters such as CVI will be obtained in patients with AMD. Conclusion: This study will elucidate alternations of choroidal vascular and stromal component in AMD and provide robust evidence on the pathophysiology of AMD. Registration number: INPLASY.