Clinical features and identification of gene mutation in families with familial exudative vitreoretinopathy / 中华眼底病杂志

Objective To identify mutations in NDP,FZD4,LRPS,TSPAN12 in Chinese families with familial exudative vitreoretinopathy (FEVR) and observe the clinical features.Methods Retrospective case series study.The 9 patients (18 eyes) and 5 normal members from 4 unrelated families were included in the study.The patients medical history and family history were collected in detail.All patients underwent best corrected visual acuity (BCVA),slit-lamp biomicroscopy,fundus colorized photography,fundus fluorescein angiography (FFA).Genomic DNA were collected from all the patients.Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries ofNDP,FZD4,LRP5 and TSPAN12 gene.Polyphen and SWT programs were used to predict the effects on the structure and functional properties of mutant protein.Results There were two affected individuals in the family 2 carried LRP5 gene mutation [c.1330C＞T (p.R444C)] in exon 6 by sequence analysis.A score of 0.882 was acquired by Polyphen program analysis.And the missense change was predicted to be pathogenic by SIFT.Fundus changes of the proband showed angioplasia,tortuosity of peripheral vessels.And temporal dragging of the optic disc,peripheral avascular zone,neovascularization were found in FFA.Brush-like and straight of peripheral vessels were found in I 1.No variant was found in NDP,FZD4 and TSPAN12 gene.Conclusion Our study supports the gene mutation c.1330C＞T (p.R444C) of LRP5 is pathogenesis of FEVR.Patients with the same mutation could have variable phenotypic characteristics.

The progress in clinical research of retinal angiomatous proliferation / 中华眼底病杂志

Retinal angiomatous proliferation (RAP) is a genetic distinct subgroup of exudative age-related macular degeneration which shows a rapid and severe vision loss and high recurrence rates.The pathophysiological mechanisms of RAP is unclear.Recent histopathologic study and en face optical coherence tomography angiography have furthered our understanding of RAP.Clinical features frequently associated with RAP include bilateral disease,presence of reticular pseudodrusen and pigment epithelial detachments.Indocyanine green angiography is the gold standard diagnostic tool.Recently,more and more accurate optical coherence tomography has improved the acknowledgement of stage and diagnosis of RAP.The treatment efficacy of RAP is highly dependent on the stage.Anti-vascular endothelial growth factor therapy is currently the first line of treatment.Other treatment options including combination of photodynamic therapy with antiangiogenic agent intravitreal injections also achieve a reasonable therapeutic outcome.There remain several important questions such as pathogenesis and treatment regimen,to be answered in future RAP research studies.

Analysis of BEST1 gene mutations and clinical features in multifocal vitelliform retinopathy patients / 中华眼底病杂志

Objective To analyze the BEST1 gene mutations and clinical features in patients with multifocal vitelliform retinopathy (MVR).Methods This is a retrospective case series study.Five MVR families with MVR,including 9 patients and 10 healthy family members were recruited.Clinical evaluations were performed in all MVR patients and their family members,including best-corrected visual acuity (BCVA),intraocular pressure (IOP),refraction,slit-lamp examination,90 D preset lens examination,gonioscopy,color fundus photography,optical coherence tomography (OCT),fundus autofluorescence (AF),ultrasound biomicroscopy (UBM) and axial length measurement.Electro-oculogram (EOG) was performed in 12 eyes and visual field were performed in 13 eyes.Peripheral blood samples were collected in all subjects to extract genomic DNA.Coding exons and flanking intronic regions of BEST 1 were amplified by polymerase chain reaction and analyzed by Sanger sequencing.Results Among the 5 MVR families,3 probands from three families had family history,including 1 family had autosomal dominant inheritance pattern.Two patients from 2 families were sporadic cases.Screening of BEST1 gene identified four mutations,including three missense mutations (c.140G＞T,p.R47L;c.232A＞T,p.I78F;c.698C＞T,p.P233L) and 1 deletion mutation (c.910_912del,p.D304del).Two mutations (p.R47L and p.I78F) were novel.The BCVA of affected eyes ranged from hand motion to 1.0.The mean IOP was (30.39± 11.86) mmHg (1 mmHg=0.133 kPa).The mean refractive diopter was (-0.33 ± 1.68) D.Twelve eyes had angle-closure glaucoma (ACG) and 4 eyes had angle closure (AC).EOG Arden ratio was below 1.55 in all patients.The mean anterior chamber depth was (2.17± 0.29) mm.Visual field showed defects varied from paracentral scotoma to diffuse defects.The mean axial length was (21.87± 0.63) mm.All MVR patients had multifocal vitelliform lesions in the posterior poles of retina.ACG eyes demonstrated pale optic disc with increased cup-to-disc ratio.OCT showed retinal edema,extensive serous retinal detachment and subretinal hyper-reflective deposits which had high autofluorescence in AF.The genetic testing and clinical examination were normal in 10 family members.Conclusions MVR patients harbored heterozygous mutation in the BEST1 gene.Two novel mutations (p.R47L and p.I78F) were identified.These patients had clinical features of multifocal vitelliform retinopathy and abnormal EOG.Most patients suffered from AC/ACG.

Polarization of retinal macrophages and (or) microglial cells and common ocular fundus diseases / 中华眼底病杂志

Retinal macrophages and (or) microglial cells play important roles in regulating inflammation,angiogenesis and tissue repairing,thus affect the development and prognosis of ischemic retinal disease,ocular immune diseases and ocular tumors.Reversing the polarization imbalance of these cells may provide new therapeutic strategies for ischemic retinal disease and ocular immune diseases.The duality of the polarization direction of these cells is still controversial in the inflammatory reaction and pathological angiogenesis of ischemic retinal disease.Meanwhile,the plasticity and diversity of the function need to be further studied and discussed.

Posterior polymorphous corneal dystrophy in X linked Alport syndrome / Distrofia corneana polimorfa posterior em Síndrome de Alport

ABSTRACT We describe a six-year-old boy with a history of hematuria, posterior polymorphous corneal dystrophy and dots and fleck retinopathy. Alport syndrome should be ruled out in patients presenting with posterior polymorphous corneal dystrophy or anterior lenticonus and a family history of renal disease.

RESUMO Descrevemos um paciente de 6 anos de idade com história de hematúria, distrofia corneana polimorfa posterior e retinopatia em "dots and flecks". Síndrome de Alport deve ser excluída se o paciente apresentar com distrofia corneana polimorfa posterior ou lenticone anterior com historia familiar de doença renal.

Research updates on the correlation of hypertensive retinopathy and carotid artery lesion / 中华眼底病杂志

Hypertensive retinopathy (HR) often coexist with carotid lesions in hypertensive patients.Carotid lesions are closely associated with cardiovascular and cerebrovascular diseases,as well as end events,offering early important evidence to screening high risk patients.HR has significant value to predict target organ damage (TOD) of hypertension including carotid lesion.In addition,hypertensive retinopathy and carotid lesions-related ischemic ocular diseases will cause serious vision function damage.This article is going to summarize the value and correlation between hypertensive retinopathy and carotid lesions in terms of clinical manifestations,pathological physiological mechanism and target organ damage.

Clinical characteristics of ocular toxocariasis patients on the first attendance / 中华眼底病杂志

Objective To investigate the clinical characteristics of 40 patients with ocular toxocariasis (OT) on the first attendance.Methods A total of 40 consecutive patients who were clinically and serologically diagnosed with OT were retrospectively reviewed.Results The mean age of patients was (12.12±10.42) years.There were 29 males and 11 females.29 cases presented with decreased vision,4 children with leukocoria,2 cases with strabismus and 5 cases was found abnormal during regular eye examination.Initially 8 eyes (20％) were misdiagnosed as retinoblastoma (1 eye),Coat' s disease (1 eye),cataract (2 eyes),iridocyclitis (2 eyes) and retinal detachment (2 eyes).23 eyes had retinal detachment,19 eyes had cataract.OT was the initial diagnosis for 15 patients (37.5％).The best corrected visual acuity (BCVA) were NLP to 0.7.Ultrasound biomicroscopy (UBM) were performed in 29 eyes,and identified peripheral granulomas in 23 eyes and adjacent tractional retinal detachment in 12 eyes.We also identified 17 cases (68.0％) with elevated IgE level among 25 patients with positive serological antibody test.Conclusions Tractional retinal detachment,vitreous opacities and cataract are the common clinical findings at the first attendance of OT patients.The adjunctive test of serum total IgE level may be helpful for the diagnosis.The application of UBM and specific IgG detection in serum and intraocular fluid,can also improve the diagnosis.

Some specific issues in the diagnosis and treatment of infectious retinal diseases / 中华眼底病杂志

The clinical manifestations of infectious retinal diseases are complicated,especially these result from serious infectious diseases such as acquired immune deficiency syndrome (AIDS),tuberculosis and syphilis infections.It is an important issue to differentiate infectious retinal disease from non-infectious intraocular inflammation in the clinic.It is,therefore,highly desirable to follow a proper steps to reach the correct diagnosis.Complete history review and comprehensive ocular examination remains the first step in diagnosing infectious retinal diseases.Although an array of laboratory and serological tests are available to assist in the diagnosis,some situations may require a diagnostic therapy or a tissue biopsy.Identification of the pathogen and histopathologic examination of the ocular specimen remain to be the gold standard of diagnosis.Initiation a specific and appropriate antimicrobial therapy needs multidisciplinary collaborations including ophthalmologists and infectious specialists.Updated knowledge of general medicine and management of infectious diseases,interdisciplinary collaborations and optimization of treatment processes will improve the diagnosis and treatment of retinal infectious diseases in the future.

Expression of αA-and αB-crystallin protein in retina after blue-light exposure / 中华眼底病杂志

Objective To observe the expression of αA-and αB-crystallin in retina after blue-light exposure.Methods Forty female Wistar rats were divided randomly into 4 groups:control group,and blue-light exposure for 6,12,and 24 hours groups,with 10 rats in each group.The rats in the control group were not intervened.The other three groups of rats were exposed to blue fluorescent lights for 6,12,and 24 hours respcetively.Then the rats were kept in darkness for 12 hours.The globes were enucleated after anaesthesia.The immunohistochemistry and Western blot were performed to detect the expression of αA-and αB-crystallin in retina.Results The absorbance value(A value)of retina αA-crystallin was 1.40573±0.70748 in the control group,and were 4.317 51±0.412 97,7.397 08±1.947 90,9.634 32±2.377 61,respectively in the other 3 groups;the difference among the groups was significant(F=24.569,P<0.001).The A value of retina αB-crystallin is 0.129 36±0.033 93 in the control group,and were 0.507 17±0.117 55,7.345 43±2.292 97,4.042 26±3.890 23,respectively in the other 3 groups;the difference among the groups was significant(F=40.102,P<0.001).The results of Western blot showed that the expression of αA-and αB-crystallin in groups with blue-light exposure was obviously higher than that in the control group.Conclusions Blue light may up-regulate the expression of αA-and αB-crystallin in rats' retina.

Retinal infectious diseases:the importance of early diagnosis / 中华眼底病杂志

In recent years,there are more and more cases of retinal infectious diseases in China,however,the diagnosis and management of those patients are still big challenges for our ophthalmicclinicians.It is our top priority to improve their capacity of early diagnosis for those diseases.We need toknow the relationship between retinal infectious diseases and systemic infections,their predisposingfactors.We also need to be familiar with the typical as well as atypical clinical features of those diseases.Vitreoretinal surgery already becomes a powerful tool to make diagnosis of retinal infectious diseases now;we need to make full use of this tool combined with modern technologies of microbiology,cytology,immunology and molecular biology to provide objective scientific evidences for the early diagnosis of retinalinfectious diseases.