Lacrimal drainage anomalies in 3p deletion syndrome

ABSTRACT

3p deletion syndrome or deletion 3p25-pter syndrome is an exceptionally rare genetic disorder characterized by deletion of the distal segment of the short arm of chromosome 3. There are less than a hundred reported cases worldwide. Clinical characteristics include severe physical and mental retardation, trigonocephaly, micrognathia, and diffuse hypotonia. The common ocular manifestations include congenital ptosis and canthal anomalies. To the best of the authors’ knowledge, no lacrimal drainage anomalies have been reported earlier. The present case describes proximal lacrimal drainage anomalies in a patient with 3p deletion syndrome. The patient was successfully managed with membranotomy and punctal and canalicular dilatation, resulting in a complete resolution of epiphora.

KEYWORDS:

• 3p deletion syndrome
• 3p monosomy
• lacrimal
• punctum
• craniofacial anomalies

Disclosure statement

Mohammad Javed Ali receives royalties from Springer for his treatises “Principles and Practice of Lacrimal Surgery” and “Atlas of Lacrimal Drainage Disorders.”

Additional information

Funding

This study was supported by Hyderabad Eye Research Foundation.