Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs.

Abstract

Two siblings with Ramon syndrome (MIM 266270) were found at follow-up to have anterior and posterior segment ocular abnormalities, including Axenfeld anomaly, retinopathy, and pale anomalous optic discs. These features were not described in the original report on this family. A recent report of another family with Ramon syndrome describes pigmentary retinopathy and optic disc pallor. It may be concluded that ocular abnormalities are another feature of this syndrome with anterior chamber abnormalities present at birth and retinopathy developing later.

• Authors: B Parkin, C Law
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 104 Issue 2 Pg. 131-4 (Nov 22 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11746043 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Topics

• Adult
• Eye Abnormalities (diagnosis, genetics)
• Family Health
• Female
• Follow-Up Studies
• Humans
• Male
• Retina (abnormalities)
• Syndrome