OMIM
Corneal Dystrophy
Fifteen genes out of nineteen loci
Strabismus(斜视）
Overall, esotropia is more common than exotropia. 先天性眼外肌纤维化congenital fibrosis of extraocular muscles-1 (CFEOM1) is caused by heterozygous mutation in the KIF21A gene (608283) on chromosome 12q12 CFEOM2 (602078), an autosomal recessive disorder caused by mutation in the ARIX gene (602753) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.
A form of autosomal recessive nonsyndromic deafness designated DFNB84A (613391), which also maps to chromosome 12q21, is caused by mutation in the PTPRQ gene (603317).
• Completed in 2003, the Human Genome Project (HGP) was a 13-year project coordinated by the U.S. Department of Energy and the National Institutes of Health. During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions came from Japan, France, Germany, China, and others.
测序花费直线下降
单基因疾病（polygenic diseases) 多基因疾病 (polygenic diseases)
视觉形成
化学信号
基因突变
光信号Biblioteka 不可逆的 视力下降甚至失明
-3-
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眼睛单基因疾病的早期诊断
1. 遗传物质的存在 2.遗传与分离规律 3. 显性遗传和隐性
遗传规律
X-连锁遗传规律
核酸（nuclein（now nucleic acids））的发现
核苷酸碱基（A T G C U)的发现
遗传物质DNA与基因和染色体的联系（1944）
DNA结构
DNA测序
Human Genome Project
• identify all the approximately 20,000-25,000 genes in human DNA, • determine the sequences of the 3 billion chemical base pairs that make up human DNA, • store this information in databases, • improve tools for data analysis, • transfer related technologies to the private sector, and • address the ethical, legal, and social issues (ELSI) that may arise from the project. • Though the HGP is finished, analyses of the data will continue for many years.
Ptosis(眼睑下垂）
Most cases are in syndromes
A number sign (#) is used with this entry because the blepharophimosis-ptosisintellectual disability syndrome (BPIDS) is caused by heterozygous mutation in the UBE3B gene (608047) on chromosome 12q23.
A number sign (#) is used with this entry because of evidence that X-linked congenital nystagmus-1 (NYS1) and infantile periodic alternating nystagmus (XIPAN) are caused by mutation in the FERM domain-containing-7 gene (FRMD7; 300628) on chromosome Xq26.
Nystagmus(眼球震颤)
most cases are in syndromes
A number sign (#) is used with this entry because of evidence that childhood-onset neurodegeneration with optic atrophy (NDGOA) is caused by homozygous mutation in the UCHL1 gene (191342) on chromosome 4p14. One such family has been reported.