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Age-related macular degeneration (AMD) is a complex phenotype that has multiple causes, including genetic.This paper reviews pertinent single-gene disorders, polymorphisms in the human genome that modify disease severity, and maculopathies that provide insight into the pathogenesis of AMD and the function of the normal macula. The availability of DNA-based analysis for certain genes will likely increase the demand for genetic counselling of patients and families with AMD. Better knowledge of risks should help prevent blindness in these families.  相似文献
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背景 视网膜色素变性(RP)是一种累及视网膜光感受器细胞及色素上皮细胞的遗传性致盲眼病.RP的发病机制及临床特征较复杂,具有遗传异质性和临床异质性.随着基因组学的迅猛发展,越来越多的研究手段应用于RP致病基因筛查.目的 通过眼科基因芯片测序方法探讨一常染色体遗传RP家系临床表型及其基因突变情况.方法 于2013年6月在重庆市荣昌县收集一汉族RP家系,对该家系所有患者进行眼科检查确诊后,抽取12名家系成员外周静脉血各1 ml,应用华大基因眼科芯片目标区域捕获技术进行基因突变检测.该基因芯片覆盖了眼病相关的基因编码区(包括59个RP候选基因),选择家系内2例RP患者(Ⅱ5、Ⅱ7)的DNA样本进行目标区域捕获测序.通过生物信息学技术对测序结果进行分析,对共有的变异位点进行Sanger测序验证.结果 该家系为常染色体遗传的RP家系.通过基因芯片分析发现该家系Ⅱ5和Ⅱ7患者存在2个共有基因突变:USH2A (c.3065T>C,p.Phe1022Ser)突变和PDE6A(c.1699G>A,p.Ala1319Gly)突变,家系其他成员检测结果表明2个基因突变未与疾病共分离.该眼科基因芯片高通量测序技术虽然未定位该家系致病基因,但快速排除了RP常见候选基因,为进一步分析奠定了研究基础.结论 采用基于目标区域捕获测序的眼科基因芯片技术可以快速、准确地筛查RP常见候选基因,是眼科疾病遗传研究的一项适用且高效的新方法.  相似文献
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AIM:To identify the genetic defects in a Chinese family with achromatopsia.METHODS:A 2.5-year-old boy, who displayed nystagmus, photophobia, and hyperopia since early infancy, was clinically evaluated. To further confirm and localize the causative mutations in this family, targeted region capture and next-generation sequencing of candidate genes, such as CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H were performed using a custom-made capture array.RESULTS:Slit-lamp examination showed no specific findings in the anterior segments. The optic discs and maculae were normal on fundoscopy. The unaffected family members reported no ocular complaints. Clinical signs and symptoms were consistent with a clinical impression of autosomal recessive achromatopsia. The results of sequence analysis revealed two novel missense mutations in CNGA3, c.633T>A (p.D211E) and c.1006G>T (p.V336F), with an autosomal recessive mode of inheritance.CONCLUSION: Genetic analysis of a Chinese family confirmed the clinical diagnosis of achromatopsia. Two novel mutations were identified in CNGA3, which extended the mutation spectrum of this disorder.  相似文献
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Purpose: To determine the mutation in a Swedish family with Best disease (vitelliform macular dystrophy; VMD) and to investigate the short‐ and long‐term effects of photodynamic treatment (PDT) on subretinal neovascularization in a young boy. Methods: The five members of three generations of a family with VMD underwent a thorough ophthalmological examination, including best‐corrected visual acuity (VA), visual field, colour vision, biomicroscopy of the posterior segment (dilated), fundus photography and electro‐oculography (EOG). For the proband, an eleven‐year‐old boy, his father and grandfather, dark adaptation test, angiography and electroretinography (ERG) were also performed. After PCR amplification, the genotype was determined by cleavage with restriction enzyme, specific for the W93C allele. Results: Four family members had an abnormal EOG response. All showed the W93C mutation in the VMD2 gene. Visual acuity ranged from 20/20 to 20/250. The fundus manifestations varied from minor pigmentary changes over egg yolk‐like lesions to chorioretinal atrophy, and fluorescein angiography showed corresponding pathology. In the proband, VA decreased during follow‐up from 0.5 (20/40) to 0.08 (20/250) due to a subfoveal neovascularization with haemorrhage, and PDT with visudyne was begun. The haemorrhage resolved within 2 months, and after three treatments, VA had increased to 0.25 (20/80). One year later, acuity had improved to 0.5 (20/40), and this result was stable throughout the 7 years of the follow‐up. Conclusion: The mutation was determined to be W93C, the most common mutation in VMD in Sweden. In an eleven‐year‐old boy with subretinal neovascularization, PDT seemed to be beneficial also in a long‐term follow‐up.  相似文献
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Background: Despite increasing knowledge of the genetic pathophysiology of glaucoma, mutations in known genes account for less than 15% of disease. Gene screening predominantly remains a research tool rather than an essential part of the clinical work‐up. We aimed to determine the mutational spectrum and frequency in the genes implicated in glaucoma, in a range of glaucoma and ‘glaucoma suspect’ (GS) participants, with a positive family history. Methods: Observational large case series. One hundred fifteen patients recruited from public hospital and private clinics had diagnoses of GS, ocular hypertension, pseudoexfoliative glaucoma (PXG) or primary open‐angle glaucoma (POAG), and at least one affected family member. In a university laboratory, DNA samples were screened for mutations in all coding exons of MYOC and CYP1B1, and OPTN (exons 4, 5 and 16). WDR36 (exons 1, 4, 5, 8, 11, 13 and 17) was screened in those with CYP1B1 changes. LOXL1 risk variants were screened in PXG pedigrees. Cascade screening of family members was undertaken. Results: Seven out of one hundred fifteen (6.1%) individuals had at least one pathogenic or hypomorphic CYP1B1 allele associated with GS, POAG (5) and PXG phenotypes, including two novel sequence variations (p.Ser6Gly, p.Val243Leu). No pathogenic MYOC change was detected. Five individuals (4.3%) carried an OPTN sequence variation. Three of the seven with CYP1B1 changes had polygenic changes. Conclusions: Mutational analysis of known glaucoma genes in a mixed glaucoma population replicates the reported frequency of pathogenic CYP1B1 changes. Heterozygous CYP1B1 changes occurred at a greater frequency than other genes. Glaucoma pathogenesis in the clinic setting is genetically heterogeneous and may be polygenic.  相似文献
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Background: Retinoblastoma (MIM +180 200) is a malignant neoplasm affecting embryonal retina, associated with mutations in the RB1 gene. This paper investigates the results of RB1 testing in retinoblastoma management in a tertiary referral centre. Methods: A retrospective audit of genetic testing for retinoblastoma from 2003 to 2008, to determine epidemiology, rate of mutation detection and spectrum was undertaken. Eligible probands were identified from the department database and hospital records examined. DNA extracted from tumour tissue and/or peripheral blood was analysed. All patients and families underwent genetic counselling. Results: Twenty patients, including one family, were identified. Eight had bilateral tumours, of whom seven presented before 2 years of age, whereas 10 of 12 unilateral cases presented after 2 years of age. Ten patients (50%) were European, four Maori (20%), three Pacific (15%), two Asian (10%), and one of mixed ancestry (5%). Genetic analysis achieved mutation detection on all affected alleles of all the patients, with tumour tissue available for testing in 19 cases. Ten (40%) had germline mutations (eight bilateral and two unilateral), including one mosaic. 75% of affected Maori had germline mutations compared with 40% Europeans. A wide range of mutations was detected with one novel mutation identified in a familial case. Conclusion: Advances in gene testing have enabled a high rate of mutation detection, particularly when tumour tissue is genotyped. Genetic analysis is integral to the management of retinoblastoma patients allowing enhanced follow‐up care, avoidance of unnecessary examinations, family screening, counselling and reproductive planning, with early tumour detection in predisposed individuals.  相似文献
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Background:  Typical exudative age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are two of the major macular diseases found in Asians. Although genomic studies have shown a contribution by CFH and LOC387715/ HTRA1 polymorphisms to the development of these two diseases, the correlation of the clinical phenotypes to these genotypes has not been determined in Asian patients.
Methods:  The prevalence of the CFH Y402H and HTRA1 rs11200638 genotypes was determined in 116 patients with typical exudative AMD and in 204 patients with PCV. Potential correlations of these polymorphisms were tested retrospectively and cross-sectionally for bilaterality of the disease, final visual acuity and the greatest linear dimension of the choroidal neovascular (CNV) lesion.
Results:  There was no significant difference in the incidence of CFH Y402H ( P  = 0.598) and HTRA1 rs11200638 ( P  = 0.290) between eyes with typical exudative AMD and with PCV. There was a significant association between the lesion size and HTRA1 rs11200638. For eyes with typical AMD, the size of the lesion (6363 ± 2837 µm) was significantly larger in the high-risk homozygous group (AA), than in the low-risk homozygous group (GG) (3866 ± 1947 µm; P  = 0.0003). The same tendency was observed for the size of the lesion in PCV cases (homozygous group: 6347 ± 2673 µm, non-risk homozygous group: 4405 ± 2066 µm, P  = 1.3 × 10−5).
Conclusions:  A common genetic background may exist between typical exudative AMD and PCV patients. Among the patients with these two clinical entities, those with a homozygous HTRA1 rs11200638 risk allele had larger CNV lesions.  相似文献
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