Achondroplasia with macular coloboma and cone-rod dystrophy: a case report

Abstract

Achondroplasia, an autosomal dominant congenital enchondral ossification, is clinically characterized by short stature, craniofacial, and bone deformities. Ophthalmic features include telecanthus and strabismus; cone-rod dystrophy can also be present. A 12-year-old male presented with decreased vision bilaterally, nystagmus, and achondroplasia. The best corrected visual acuity (BCVA) was Log MAR 1.0 in the right eye and Log MAR 0.8 in the left eye, the anterior segments showed no abnormalities, however the fundus showed bilateral macular coloboma. On electrophysiological assessment, there was also bilateral cone-rod dysfunction. As ophthalmic associations are common in Achondroplasia, thorough ophthalmological examination as well as electrophysiological assessment are mandatory.