Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family

Andre R Ismail; Carolyn A Cates; Robert F Mullins; Ruth M Manners; Andrew J Lotery

doi:10.1097/IOP.0b013e318157d3f9

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Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family

Journal article

Peer reviewed

Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family

Andre R Ismail, Carolyn A Cates, Robert F Mullins, Ruth M Manners and Andrew J Lotery

Ophthalmic plastic and reconstructive surgery, Vol.23(6), pp.484-486

11/2007

DOI: 10.1097/IOP.0b013e318157d3f9

PMID: 18030124

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Abstract

A novel phenotype in a 3-generation family with early-onset aponeurotic ptosis and corneal limbal vascularization is described. Karyotype analysis was normal in the proband, and autosomal dominant transmission is demonstrated.

Blepharoptosis - genetics

Humans

Middle Aged

Child, Preschool

Limbus Corneae - blood supply

Male

Corneal Neovascularization - genetics

Oculomotor Muscles - pathology

Phenotype

Genes, Dominant

Pedigree

Adult

Female

Aged

Details

Title: Subtitle: Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family
Creators: Andre R Ismail - Southampton Eye Unit , Southampton, United Kingdom
Carolyn A Cates
Robert F Mullins
Ruth M Manners
Andrew J Lotery
Resource Type: Journal article
Publication Details: Ophthalmic plastic and reconstructive surgery, Vol.23(6), pp.484-486
Publisher: United States
DOI: 10.1097/IOP.0b013e318157d3f9
PMID: 18030124
ISSN: 0740-9303
eISSN: 1537-2677
Language: English
Date published: 11/2007
Academic Unit: Ophthalmology and Visual Sciences
Record Identifier: 9983979988002771

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