Open AccessAchondroplasia and macular coloboma
Author(s) -
Mohamadhosein Ahoor,
Yashar Amizadeh,
Rana Sorkhabi
Publication year - 2015
Publication title -
middle east african journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.357
H-Index - 25
eISSN - 0975-1599
pISSN - 0974-9233
DOI - 10.4103/0974-9233.167819
Subject(s) - medicine , achondroplasia , coloboma , exotropia , short stature , craniofacial , deformity , fundus (uterus) , ophthalmology , ossification , anatomy , surgery , pediatrics , strabismus , psychiatry
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.