title: Distal arthrogryposis type IIB: unreported ophthalmic findings.
abstract: We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.
authors.affiliation: St. Pauls Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
authors.forename: Jayashree
authors.initials: J
authors.lastname: Sahni
authors.affiliation: St. Pauls Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Kaye
authors.affiliation: Department of Clinical Genetics, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, United Kingdom.
authors.forename: Alan
authors.initials: A
authors.lastname: Fryer
authors.affiliation: Department of Ocular pathology, Royal Liverpool University Hospital, Liverpool, United Kingdom.
authors.forename: Paul
authors.initials: P
authors.lastname: Hiscott
authors.affiliation: Department of Rheumatology, Royal Liverpool University Hospital, Liverpool, United Kingdom.
authors.forename: Roger C
authors.initials: RC
authors.lastname: Bucknall
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics; D016569:Blepharophimosis / Q000473:pathology; D003315:Cornea / Q000378:metabolism / Q000648:ultrastructure; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D005654:Fundus Oculi; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012171:Retinal Vessels / Q000002:abnormalities