Distal arthrogryposis type IIB: unreported ophthalmic findings.
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.
Sahni
Jayashree
J
St. Pauls Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
Kaye
Stephen B
SB
St. Pauls Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
Fryer
Alan
A
Department of Clinical Genetics, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, United Kingdom.
Hiscott
Paul
P
Department of Ocular pathology, Royal Liverpool University Hospital, Liverpool, United Kingdom.
Bucknall
Roger C
RC
Department of Rheumatology, Royal Liverpool University Hospital, Liverpool, United Kingdom.
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