Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family.
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.
Ismail
Andre R
AR
Southampton Eye Unit , Southampton, United Kingdom.
Cates
Carolyn A
CA
Mullins
Robert F
RF
Manners
Ruth M
RM
Lotery
Andrew J
AJ
D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D016510:Corneal Neovascularization / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D016850:Limbus Corneae / Q000098:blood supply*; D008297:Male; D008875:Middle Aged; D009801:Oculomotor Muscles / Q000473:pathology; D010375:Pedigree; D010641:Phenotype