Korean J Ophthalmol.  2010 Oct;24(5):302-305. 10.3341/kjo.2010.24.5.302.

A Case of Chorioretinal Coloboma in a Patient with Achondroplasia

• Yoo WS
• Park YJ
• Yoo JM

• KMID: 974325
• DOI: http://doi.org/10.3341/kjo.2010.24.5.302

Abstract

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 microm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.

Keyword

Achondroplasia; Chorioretinal coloboma

MeSH Terms

Achondroplasia/*complications/diagnosis
Child
Choroid/*abnormalities
Choroid Diseases/*complications/diagnosis
Coloboma/*complications/diagnosis
Female
Humans
Ophthalmoscopes
Tomography, Optical Coherence
Visual Acuity

Figure

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  Fig. 1 Clinical photograph of an 8-year-old girl presenting as telecanthus, with pudgy, excessively thick fingers.

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  Fig. 2 Roentgenogram of the patient. There is caudal narrowing of interpeduncular spaces in the lumbar area (A) and characteristic short limbs with relatively short proximal bone (B,C).

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  Fig. 3 Optical coherence tomography of the patient shows a superior retinal nerve fiber layer defect in both eyes. TEMP=temporal; SUP=superior; NAS=nasal; INF=inferior; Imax=inferior maximum; Smax=superior maximum; Tavg=temporal average; Navg=nasal average; Savg=superior average; Iavg=inferior average.

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  Fig. 4 Color photograph of fundus showing chorioretinal coloboma in both eyes.

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  Fig. 5 Fluorescein angiography of the patient showing only coloboma without other retinal lesions. (A) Early phase. (B) Late phase.

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