PDF(Pubmed)
Abstract：
Hereditary causes are an important etiological category of childhood blindness. This study reports the real-world experience of a developing ocular genetic service.
The study was carried out from Jan 2020 to Dec 2021 jointly by the Pediatric Genetic Clinic and the Department of Ophthalmology of a tertiary care hospital in North-West India. Children presenting to the genetic clinic with congenital or late-onset ocular disorder(s) and any individual (irrespective of age) suffering from an ophthalmic disorder and referred by an ophthalmologist for genetic counseling for himself/herself and/or his/her family member(s) were included. Genetic testing (exome sequencing/panel-based sequencing/chromosomal microarray) was outsourced to third-party laboratories with the cost of the test being borne by the patient.
Exactly 8.6% of the registered patients in the genetic clinic had ocular disorders. Maximum number of patients belonged to the category of anterior segment dysgenesis, followed by microphthalmia anophthalmia coloboma spectrum, lens disorders, and inherited retinal disorders in decreasing numbers. The ratio of syndromic ocular to isolated ocular disorders seen was 1.8:1. Genetic testing was accepted by 55.5% of families. The genetic testing was clinically useful for ~35% of the tested cohort, with the opportunity for prenatal diagnosis being the most useful application of genetic testing.
Syndromic ocular disorders are seen at a higher frequency compared to isolated ocular disorders in a genetic clinic. Opportunity for prenatal diagnosis is the most useful application of genetic testing in ocular disorders.
The study was carried out from Jan 2020 to Dec 2021 jointly by the Pediatric Genetic Clinic and the Department of Ophthalmology of a tertiary care hospital in North-West India. Children presenting to the genetic clinic with congenital or late-onset ocular disorder(s) and any individual (irrespective of age) suffering from an ophthalmic disorder and referred by an ophthalmologist for genetic counseling for himself/herself and/or his/her family member(s) were included. Genetic testing (exome sequencing/panel-based sequencing/chromosomal microarray) was outsourced to third-party laboratories with the cost of the test being borne by the patient.
Exactly 8.6% of the registered patients in the genetic clinic had ocular disorders. Maximum number of patients belonged to the category of anterior segment dysgenesis, followed by microphthalmia anophthalmia coloboma spectrum, lens disorders, and inherited retinal disorders in decreasing numbers. The ratio of syndromic ocular to isolated ocular disorders seen was 1.8:1. Genetic testing was accepted by 55.5% of families. The genetic testing was clinically useful for ~35% of the tested cohort, with the opportunity for prenatal diagnosis being the most useful application of genetic testing.
Syndromic ocular disorders are seen at a higher frequency compared to isolated ocular disorders in a genetic clinic. Opportunity for prenatal diagnosis is the most useful application of genetic testing in ocular disorders.
摘要：
未经证实：遗传原因是儿童失明的重要病因学类别。这项研究报告了正在发展的眼部遗传服务的现实世界经验。
UNASSIGNED：该研究于2020年1月至2021年12月由印度西北部一家三级保健医院的儿科遗传诊所和眼科联合进行。包括出现在遗传诊所的患有先天性或迟发性眼部疾病的儿童和患有眼科疾病的任何个体(不论年龄),并由眼科医生转诊为他/她自己和/或他/她的家庭成员进行遗传咨询。基因测试（外显子组测序/基于面板的测序/染色体微阵列）外包给第三方实验室，测试费用由患者承担。
UNASSIGNED：在遗传诊所登记的患者中有8.6%患有眼部疾病。患者的最大数量属于眼前节发育不全的类别，其次是小眼失眼症，晶状体疾病,遗传性视网膜疾病的数量在减少。观察到的综合征性眼部疾病与孤立的眼部疾病的比率为1.8：1。55.5%的家庭接受基因检测。基因检测在临床上对约35%的受试队列有用，产前诊断的机会是基因检测最有用的应用。
未经证实：在遗传诊所中，与孤立的眼部疾病相比，综合征性眼部疾病的出现频率更高。产前诊断的机会是基因检测在眼部疾病中最有用的应用。
UNASSIGNED：该研究于2020年1月至2021年12月由印度西北部一家三级保健医院的儿科遗传诊所和眼科联合进行。包括出现在遗传诊所的患有先天性或迟发性眼部疾病的儿童和患有眼科疾病的任何个体(不论年龄),并由眼科医生转诊为他/她自己和/或他/她的家庭成员进行遗传咨询。基因测试（外显子组测序/基于面板的测序/染色体微阵列）外包给第三方实验室，测试费用由患者承担。
UNASSIGNED：在遗传诊所登记的患者中有8.6%患有眼部疾病。患者的最大数量属于眼前节发育不全的类别，其次是小眼失眼症，晶状体疾病,遗传性视网膜疾病的数量在减少。观察到的综合征性眼部疾病与孤立的眼部疾病的比率为1.8：1。55.5%的家庭接受基因检测。基因检测在临床上对约35%的受试队列有用，产前诊断的机会是基因检测最有用的应用。
未经证实：在遗传诊所中，与孤立的眼部疾病相比，综合征性眼部疾病的出现频率更高。产前诊断的机会是基因检测在眼部疾病中最有用的应用。
