Text, photos/Yangcheng Evening News all-media reporter Wen Cong correspondent Lin Yuzhen
Little Ye (pseudonym) was diagnosed with amblyopia when she was four years old. After ten years of visual training, she recently waited for a The harsh reality – hereditary optic neuropathy. According to Liu Jimin, director of the Fundus Disease Department of Dongguan Aier Eye Hospital affiliated to Jinan University, hereditary optic neuropathy is a degenerative genetic disease, and diagnosed patients may eventually lead to total blindness.
Liu Jimin gave Xiao Ye an analysis and inspection report
Affected by the epidemic this year, 14-year-old Xiao Ye is inconvenient to travel to other places Continue the vision training treatment, so I came to Dongguan Aier Eye Hospital. In view of the low lobular visual acuity (only 0.2 remaining), the doctor suggested that he do amblyopia training to see if the visual acuity will improve. After a course of 20 days of training, the effect is not obvious. Even with glasses, the visual acuity can only reach 0.3.
The doctor suggested that the lobule be transferred to the fundus department for a detailed examination. Liu Jimin immediately arranged a series of examinations such as OCT fundus retinal structure examination, VEP retinal evoked potential examination combined with genetic testing for the lobule, and found that the lobule is due to autosomal dominant inheritance, a heterozygous mutation of the gene, derived from the mother, and belongs to the family hereditary optic nerve. disease.
“The disease usually starts within 10 years of age, and there are no obvious symptoms in the early stage, but after 3-5 years, there will be a significant decrease in the vision of both eyes. With the development of the disease, it will eventually lead to total blindness.” Liu Jimin Said that the hereditary eye disease clinic opened in the hospital, the common clinical ophthalmic genetic diseases include eye genetic disease retinal degeneration, congenital cataract, hereditary optic neuropathy and so on. Some hereditary eye diseases are onset at birth, but a considerable number of hereditary eye diseases take several years, ten years or even decades before obvious symptoms appear. People with familial risk, or those with advanced disease but high suspicion of hereditary eye disease, should have genetic testing as soon as possible.
Liu Jimin said that hereditary eye disease is the most important blinding eye disease threatening children and adolescents. and can be passed on to future generations. Routine ophthalmological examinations, such as vision, fundus, and B-ultrasound, cannot identify the causative gene. At present, the most reliable, accurate and convenient method is to carry out genetic testing as soon as possible. “Early detection, early intervention, and genetic counseling are the best strategies for the prevention and treatment of hereditary eye diseases, which help patients to understand the etiology of the disease, prenatal and postnatal care, and preventive treatment.”
The doctor recommends: the following groups need to focus on testing
1. Before giving birth to patients with genetic diseases, it is particularly important for both husband and wife to carry out genetic counseling, but the premise is It is necessary to go to a professional ophthalmologist first to clarify the type of disease. For genetic diseases, the causative gene should be identified. At this time, professional genetic counseling and genetic diagnosis can be carried out to determine whether the disease will be passed on to the next generation.
2. Key test populations: patients with clinically diagnosed or suspected hereditary eye diseases, pre-pregnancy and prenatal examinations, people with abnormal vision in childhood, people at high risk of hereditary eye disease (people with a family history of high myopia, people with consanguineous marriages) ).