Dilemmas in the management of lacrimal drainage anomalies in BOSMA (congenital arhinia-microphthalmia) syndrome

ABSTRACT

Congenital arhinia-microphthalmos syndrome or BOSMA syndrome is an exceptionally rare clinical syndrome characterized by unilateral or bilateral complete absence of the nasal cavity associated with several craniofacial, ocular, and systemic anomalies. Lacrimal drainage anomalies are secondary to absent nasolacrimal duct and usually present as dilated lacrimal sac or mucoceles. While navigation-guided dacryocystorhinostomies into the contralateral nasal cavity are described for unilateral arhinia, the way forward for the complete absence of the nose and nasal cavity is still unclear. A multidisciplinary team from the specialties of genetics, plastic surgery, ophthalmic plastics and reconstructive surgery, otorhinolaryngology, and endocrinology should get involved very early on for better continuity of care.

KEYWORDS:

• Arhinia
• BOSMA syndrome
• microphthalmia
• lacrimal
• CNLDO

Disclosure statement

Dr. Mohammad Javed Ali receives royalties from Springer for the textbook “Principles and Practice of Lacrimal Surgery” and for the treatise “Atlas of Lacrimal Drainage Disorders.”

Additional information

Funding

Hyderabad Eye Research Foundation.