Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia)

H F Pizio; M H Scott; J M Richard

doi:10.3109/13816819409056909

Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia)

Ophthalmic Genet. 1994 Mar;15(1):37-40. doi: 10.3109/13816819409056909.

Authors

H F Pizio¹, M H Scott, J M Richard

Affiliation

¹ Dean A. McGee Eye Institute, University of Oklahoma, Department of Ophthalmology, Oklahoma City 73104.

PMID: 7953251
DOI: 10.3109/13816819409056909

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Child
Facial Bones / abnormalities*
Facial Bones / pathology
Fundus Oculi
Genitalia, Male / abnormalities*
Genitalia, Male / pathology
Humans
Hypertelorism / diagnosis
Hypertelorism / genetics
Male
Retinal Vessels / abnormalities*
Retinal Vessels / pathology*