Genetic diseases affecting the eyelids: what should a clinician know?

Current Opinion in Ophthalmology
Richard C Allen

Abstract

The molecular basis of a number of inherited diseases that affect the eyelids has been elucidated over the last two decades. Due to the vast number of these diseases, a clinician may become overwhelmed by the volume of data, making it difficult to incorporate newer information into his or her clinical practice. This article intends to review the recent developments of inherited diseases that affect the eyelids that a typical oculoplastic surgeon will encounter. This review proposes categorizing genetic diseases affecting the eyelids on rarity and whether the disease manifests itself at birth or later in life. Based on this classification system the following 10 diseases (the first five manifesting at birth, the last five later in life) are considered more likely to be encountered by the typical oculoplastic surgeon and reviewed in detail: blepharophimosis-ptosis-epicanthus inversus syndrome, congenital fibrosis of the extraocular muscles, lymphedema-distichiasis syndrome, neurofibromatosis type 1, congenital myasthenic syndrome, oculopharyngeal muscular dystrophy, chronic progressive external ophthalmoplegia, myotonic dystrophy, neurofibromatosis type 2, and basal cell nevus syndrome. The remaining known genetic disorders that ...Continue Reading

References

Jan 1, 1978·Archives of Ophthalmology·R K Dortzbach, R T Butera
Sep 1, 1975·American Journal of Ophthalmology·J H White
Dec 31, 1975·Revista clínica española·F Fernandez MartínL Barraquer-Bordas
Dec 1, 1991·The British Journal of Ophthalmology·M BeaconsfieldJ R Collin
Mar 1, 1989·Archives of Ophthalmology·R L Anderson, T S Nowinski
Oct 1, 1988·Journal of Child Neurology·A G Engel
Jan 1, 1987·Ophthalmic Plastic and Reconstructive Surgery·N ShorrR A Goldberg
Jan 1, 1988·Journal of Medical Genetics·C Oley, M Baraitser
Jun 1, 1974·American Journal of Ophthalmology·C C Johnson, T Kuwabara
Sep 1, 1971·American Journal of Ophthalmology·R Kohn, P E Romano
Apr 1, 1966·American Journal of Ophthalmology·H G Scheie, D M Albert
May 1, 1983·Annals of Neurology·M RodriguezW F Taylor
Apr 9, 1981·Nature·S AndersonI G Young
Apr 1, 1981·Archives of Ophthalmology·R L Anderson, J T Harvey
Mar 1, 1995·Human Molecular Genetics·K W SmallM A Pericak-Vance
Apr 1, 1994·Clinical Dysmorphology·I K Temple, J R Collin
Sep 1, 1993·Neuromuscular Disorders : NMD·S C BlumenA D Korczyn
Jul 1, 1996·Acta Paediatrica·B AnlarH Topaloğlu
Oct 1, 1996·Ophthalmology·J Ferrer
Feb 1, 1997·Archives of Ophthalmology·G L VaughnB N Lemke
Mar 5, 1999·Science·D C Wallace
Jul 27, 1999·American Journal of Human Genetics·J MangionS Jeffery
Aug 5, 2000·Science·J KaukonenA Suomalainen
Mar 10, 2001·Cell·K Cichowski, T Jacks
May 24, 2001·Human Molecular Genetics·D N FinegoldR E Ferrell
May 31, 2001·Ophthalmology·S G HonavarE Z Mahmood

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Citations

Jan 18, 2018·Ophthalmic Plastic and Reconstructive Surgery·Ana Beatriz D Grisolia, Christine C Nelson
Aug 5, 2017·Frontiers in Neurology·Ali G Hamedani, Daniel R Gold
Mar 2, 2021·Neurology India·Constantinos Papadopoulos, George K Papadimas

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