title: Achondroplasia and Macular Coloboma.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Tabriz University of Medical Sciences, Nikokari Eye Hospital, Tabriz, Iran.
authors.forename: M H
authors.initials: MH
authors.lastname: Ahoor
authors.affiliation: Department of Ophthalmology, Tabriz University of Medical Sciences, Nikokari Eye Hospital, Tabriz, Iran.
authors.forename: Y
authors.initials: Y
authors.lastname: Amizadeh
authors.affiliation: Department of Ophthalmology, Tabriz University of Medical Sciences, Nikokari Eye Hospital, Tabriz, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Sorkhabi
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D003103:Coloboma / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D005451:Fluorescein Angiography; D006801:Humans; D008266:Macula Lutea / Q000002:abnormalities* / Q000503:physiopathology; D008297:Male; D009887:Ophthalmoscopy; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
keywords: Achondroplasia; Congenital Disorder; Craniofacial Deformity; Macular Coloboma; Ossification