Neurofibromatosis

Neurofibromatosis

* AD （常考喔！）,
* NF1(17), NF2(22) von Reclinghausen neurofibromatosis
* Café-aulait spots, iris (Lisch) nodule

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* 診斷NF-1的major criterion。
1. sphenoid wing dysplasia,
2. single plexiform neurofibroma
3. optic nerve glioma皆

* NF-1相關疾病：
1. congenital glaucoma,
2. optic glioma
=> 不需要馬上surgical incision
=> 病理學上有Rothental fibers。
3. astrocytoma,
4. orbital encephalocele,
5. pheochromocytoma
6. meningioma

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Bilateral acoustic neurofibromatosis (NF2)

* 僅60%有café-au-lait spot及peripheral neurofibroma
* Lisch nodule不算是「NF-2的特色」
* NF2主要特色為cataract (PSC, wedge-cortical cataract)

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例題1： 下列何者不是NF-1的特色？
a. Lisch nodule
b. plexiform neurofibroma
c. optic nerve glioma
d. PSC
答：d

例題2： 下列關於neurofibromatosis的敘述何者錯誤？
a. NF-1為AD遺傳， NF-2為AR遺傳
b. NF-1的gene在第17對，NF-2的gene在第22對
c. Lisch nodule不算NF-2的特色
d. NF-1常見optic nerve glioma，病理學上有Rothental fibers。
答： a （both AD）

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