Genetic diseases affecting the eyelids

作者: Richard C. Allen

DOI: 10.1097/ICU.0B013E3283638219

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摘要: Purpose of review The molecular basis a number inherited diseases that affect the eyelids has been elucidated over last two decades. Due to vast these diseases, clinician may become overwhelmed by volume data, making it difficult incorporate newer information into his or her clinical practice. This article intends recent developments typical oculoplastic surgeon will encounter. Recent findings proposes categorizing genetic affecting on rarity and whether disease manifests itself at birth later in life. Based this classification system following 10 (the first five manifesting birth, life) are considered more likely be encountered reviewed detail: blepharophimosis-ptosis-epicanthus inversus syndrome, congenital fibrosis extraocular muscles, lymphedema-distichiasis neurofibromatosis type 1, myasthenic oculopharyngeal muscular dystrophy, chronic progressive external ophthalmoplegia, myotonic 2, basal cell nevus syndrome. remaining known disorders less listed tabular form. Summary It is prudent for knowledgeable aid accurate diagnosis, counseling, treatment. development future therapies some point make treatment no longer surgical. Video abstract http://links.lww.com/COOP/A4.

参考文章(124)
R L Hiatt, A A Halle, General fibrosis syndrome. Annals of Ophthalmology. ,vol. 15, pp. 1103- 1109 ,(1983)
Maurice Victor, Robert Hayes, Raymond D Adams, Oculopharyngeal muscular dystrophy. The New England Journal of Medicine. ,vol. 268, pp. 163- 163 ,(2009) , 10.1056/NEJM196301172680319
Fenton I, Rundle Sa, Harley Hg, Harper Ps, Brook Jd, Reardon W, MacMillan Jc, Crow S, Shaw Dj, Myring J, Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. American Journal of Human Genetics. ,vol. 52, pp. 1164- 1174 ,(1993)
Vickie Lee, Nicola K Ragge, J.Richard O Collin, Orbitotemporal neurofibromatosis ☆: Clinical features and surgical management Ophthalmology. ,vol. 111, pp. 382- 388 ,(2004) , 10.1016/J.OPHTHA.2003.05.029
Vincent A Wong, Peter S Beckingsale, Christine A Oley, Timothy J Sullivan, Management of myogenic ptosis1 1The authors have no proprietary interest in any products related to this manuscript. Ophthalmology. ,vol. 109, pp. 1023- 1031 ,(2002) , 10.1016/S0161-6420(02)01009-6
Gert Van Goethem, Bart Dermaut, Ann Löfgren, Jean-Jacques Martin, Christine Van Broeckhoven, Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nature Genetics. ,vol. 28, pp. 211- 212 ,(2001) , 10.1038/90034
Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti, Kaisu Nikali, Qiu-Ping Yuan, Muhammed Tariq, Sjoerd Wanrooij, Nuria Garrido, Giacomo Comi, Lucia Morandi, Lucio Santoro, Antonio Toscano, Gian-Maria Fabrizi, Hannu Somer, Rebecca Croxen, David Beeson, Joanna Poulton, Anu Suomalainen, Howard T Jacobs, Massimo Zeviani, Catharina Larsson, Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria Nature Genetics. ,vol. 28, pp. 223- 231 ,(2001) , 10.1038/90058
Graeme Suthers, Carol Wicking, Ian Macleod Smyth, Georgia Chenevix-Trench, Kylie Negus, Susan Shanley, Brandon Wainwright, Susan Gillies, Matt Edwards, Neva Haites, Scott Graham, Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the patched protein, and no genotype-phenotype correlations are evident American Journal of Human Genetics. ,vol. 60, pp. 21- 26 ,(1997)
Santosh G Honavar, Jerry A Shields, Carol L Shields, Ralph C Eagle, Hakan Demirci, Edna Z Mahmood, Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome11The authors do not have proprietary interest in any of the materials or methods used in this study. Ophthalmology. ,vol. 108, pp. 1115- 1123 ,(2001) , 10.1016/S0161-6420(01)00560-7
Motoi Nakano, Koki Yamada, Jennifer Fain, Emin C. Sener, Carol J. Selleck, Abdulaziz H. Awad, Johan Zwaan, Paul B. Mullaney, Thomas M. Bosley, Elizabeth C. Engle, Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genetics. ,vol. 29, pp. 315- 320 ,(2001) , 10.1038/NG744