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.

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

“…Ahoor et al . [ 8 ] reported in a 24-year-old man with achondroplasia a well-demarcated circular paramacular coloboma in both eyes.…”

“…Ophthalmic features in Achandroplasia are rare. But reported Ocular association with achondroplasia include [as in Table 1 ] simple microphthalmos,[ 4 ] congenital-onset glaucoma with presumed Axenfeld–Rieger anomaly,[ 5 ] telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy,[ 6 ] fundus albipunctatus,[ 7 ] chorioretinal coloboma, macular coloboma,[ 8 ] keratoconus,[ 9 ] and developmental cataract. [ 10 , 11 ]…”

Bilateral congenital macular coloboma and cataract

“…The combination of macular coloboma with other systemic diseases, such as apical dystrophy of the hands and feet, achondroplasia, and retinitis pigmentosa, and so on, was commonly reported in these patients. [ 4 , 10 , 11 ] The second reason for this disease was considered to be an intrauterine infection. [ 3 ]…”

Optical Coherence Tomographic Finding in a Case of Congenital Macular Coloboma at King Abdulaziz University Hospital, Jeddah

“…Coloboma is an ocular congenital defect that can affect different areas of the eye such as the iris, the retina, the choroid, the lens or the optic nerve [ 1 ]. Meanwhile, macular coloboma is an atypical coloboma that is hypothesized to be the result of incomplete differentiation of the arcuate bundle along the horizontal raphe during development [ 2 ]. Macular coloboma is a rare eye condition that may affect about 0.5-0.7/10,000 live births [ 3 ].…”