TY - JOUR
T1 - Genetic diseases affecting the eyelids
T2 - What should a clinician know?
AU - Allen, Richard C.
PY - 2013/9
Y1 - 2013/9
N2 - PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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 affect the eyelids are considered less likely to be encountered by the typical oculoplastic surgeon and are listed in tabular form. SUMMARY: It is prudent for the oculoplastic surgeon to be knowledgeable of inherited disorders that affect the eyelids to aid in accurate diagnosis, counseling, and treatment. The development of future therapies may at some point make treatment of these diseases no longer surgical. VIDEO ABSTRACT: http://links.lww.com/COOP/A4.
AB - PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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 affect the eyelids are considered less likely to be encountered by the typical oculoplastic surgeon and are listed in tabular form. SUMMARY: It is prudent for the oculoplastic surgeon to be knowledgeable of inherited disorders that affect the eyelids to aid in accurate diagnosis, counseling, and treatment. The development of future therapies may at some point make treatment of these diseases no longer surgical. VIDEO ABSTRACT: http://links.lww.com/COOP/A4.
KW - Eyelid
KW - Gene
KW - Genetic
KW - Inherited
KW - Ptosis
UR - http://www.scopus.com/inward/record.url?scp=84883463321&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84883463321&partnerID=8YFLogxK
U2 - 10.1097/ICU.0b013e3283638219
DO - 10.1097/ICU.0b013e3283638219
M3 - Review article
C2 - 23846188
AN - SCOPUS:84883463321
SN - 1040-8738
VL - 24
SP - 463
EP - 477
JO - Current opinion in ophthalmology
JF - Current opinion in ophthalmology
IS - 5
ER -