Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome.

Abstract

Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings associated with Aarskog syndrome which are discussed. We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency.

• Authors: Aryan Jogiya, Charles Sandy
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 26 Issue 3 Pg. 139-41 (Sep 2005) ISSN: 1381-6810 [Print] England
• PMID: 16272060 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adolescent
• Facial Bones (abnormalities)
• Genitalia, Male (abnormalities)
• Hand Deformities (genetics)
• Humans
• Hypertelorism (genetics)
• Male
• Optic Nerve (abnormalities)
• Retinal Vein (abnormalities)
• Retrospective Studies
• Syndrome