Achondroplasia and Macular Coloboma.
Middle East Afr J Ophthalmol
; 22(4): 522-4, 2015.
Article
en En
| MEDLINE
| ID: mdl-26692730
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Acondroplasia
/
Coloboma
/
Mácula Lútea
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Middle East Afr J Ophthalmol
Año:
2015
Tipo del documento:
Article
País de afiliación:
Irán