Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).
Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features. Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia. The authors report a patient with Aarskog syndrome and bilateral retinal vessel tortuosity. This is the first retinal anomaly associated with Aarskog syndrome.
Pizio
H F
HF
Dean A. McGee Eye Institute, University of Oklahoma, Department of Ophthalmology, Oklahoma City 73104.
Scott
M H
MH
Richard
J M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D005654:Fundus Oculi; D005837:Genitalia, Male / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics; D008297:Male; D012171:Retinal Vessels / Q000002:abnormalities* / Q000473:pathology*