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Case Reports
. 2015 Oct-Dec;22(4):522-4.
doi: 10.4103/0974-9233.167819.

Achondroplasia and Macular Coloboma

M H Ahoor  1 , Y Amizadeh  1 , R Sorkhabi  1
Affiliations
Case Reports

Achondroplasia and Macular Coloboma

M H Ahoor et al. Middle East Afr J Ophthalmol. 2015 Oct-Dec.

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.

Keywords: Achondroplasia; Congenital Disorder; Craniofacial Deformity; Macular Coloboma; Ossification.

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Figures

Figure 1
Figure 1
Clinical appearance of a 24-year-old male presenting with typical achondroplasia
Figure 2
Figure 2
Fundus photograph showingmacular coloboma in left (a) and right (b) eyes
Figure 3
Figure 3
Fluorescein angiography of both eyes showing macular coloboma without any other retinal lesion
Figure 4
Figure 4
Optical coherence tomography showing attenuated retinal nerve fiber layer of both eyes especially the left eye
See this image and copyright information in PMC

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