Ocular manifestations of De Barsy Syndrome (DBS)

Session Details

Session Title: Presented Poster Session: Infections & Syndromes

Venue: Poster Village: Pod 3

First Author: : C.Putri UK

Co Author(s): :    M. Edwards   J. Marr                    

Abstract Details

Purpose:

To describe a case of DBS and its ocular manifestations

Setting:

Sheffield Teaching Hospitals NHS Foundation Trust

Methods:

DBS is a rare autosomal recessive disorder and very few case reports on its ocular manifestation have been published. We describe a case of DBS related to PYCR1 mutation in a child of first-cousin Pakistani parents. She displayed characteristic features of DBS such as cutis laxa III, progeroid appearance, skeletal malformations, growth and developmental delay and ophthalmic abnormalities. She was born with blue sclera, hypoplastic iris, faint corneal haze and small upper eyelids. She developed alternating esotropia with inferior oblique overreaction. Her corneas appeared thinned and topography measurements showed steep corneal curvature. She was highly myopic with significant astigmatism.

Results:

Our patient underwent bimedial recession and bilateral inferior oblique myomectomy for the large angle squint. She wears glasses to correct her refractive error: with this she has reasonable level of functional vision.

Conclusions:

DBS is a very rare disorder with significant systemic and ocular manifestations. Treatment for the ocular manifestation of this disorder is symptomatic, including refractive correction, visual rehabilitation and eye surgery. Affected individuals and their families should be offered genetic counseling and psychosocial support.

Financial Disclosure:

None