Chromosome地址造冊

Ch. 1
* Stargardt disease, AR, Chromosome 1
* Gelatinous droplike dystrophy (primary familial amyloidosis)AR, Chromosome 1P
* GLC1A, 1q23 for Juvenile Glaucoma

Ch. 2
* AR form的pediatric glaucoma, chromosome 2
* Alport syndrome, X-linked為主或AR(10%), Mutation在collagen gene在X chromosome或chromosome 2而影響basement membrane

Ch. 3
* von Hippel-Lindau disease，位在 chromosome 3
* Dominant optic atrophy–AD, 位在 chromosome 3

Ch. 4
* Bietti crystalline corneoretinal dystrophy, AR, Chromosome 4q
* Wolf-Hirschhorn syndrome, 4p
* Rieger syndrome–4q25

Ch. 6
* HLA gene在Chromosome 6上
* North Carolina macular dystrophy, chromosome 6

Ch. 9
* Tuberous sclerosis (Bourneville syndrome), AD, chromosome 9
* familial dysantonomia (Riley-Day syndrome), AR，Chromosome 9q

Ch. 10
* Gyrate atrophy, AR, Chromosome 10, ornithine aminotransferase mutation (OAT)
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Ch. 11
* Aniridia,PAX6 gene在chromosome 11p13 , AD
* Best vitelliform dystrophy, AD,VMD2 gene (bestrophin)→Ch.11
* FEVR, AD最多（82%）, FEVR 1 gene 在chromosome 11
* Ataxia-telangiectasia(Louis-Bar syndrome), AR,AT gene在chromosome 11

Ch. 13
* Retinoblastoma 13q
* Wilson disease, AR, chromosome 13q14.3
* Trisomy 13, Edward sydnrome

Ch. 15
* Marfan syndrome, AD, chromosome 15q21.1 (fibrillin gene)

Ch. 17
* Cystinosis (cysteine代謝異常)，Chromosome 17p13
* Central areolar choroidal dystrophy, chromosome 17
* Neurofibromatosis-1,AD , chromosome 17 （NF-2在ch.22)

Ch. 19
* Myotonic dystrophy, AD, chromosome 19

* Mucolipidosese–mucopolysaccharide Ⅳ (mapped to Chromosome 19p)

Ch.21
* Trosomy 21→Down syndrome

Ch.22
* Neurofibromatosis-2 (von Reclinghausen neurofibromatosis)
* Sorsby macular dystrophy, AD, TIMP3 gene (chromosome 22)

Sex chromosome
* Klinefelter syndrome （47XXY,男性多出一個X染色體）
* Turner syndrome（45X,女生少一個X）
* color vision– 正常x chromosome上有1個red gene及3個green gene