Unusual superior iris and retinochoroidal coloboma.

A 6-year-old female presented with decreased vision and inward deviation of right eye for five years. Her vision was 2/60 in the right eye. A slit–lamp examination revealed right eye esotropia, microcornea, and superior iris coloboma [Fig. 1a]. The fundus examination showed isolated superior retinochoroidal coloboma [Fig. 1b]. The typical inferior iris and retinochoroidal coloboma occurs due to the failure of closure of choroidal fissures during embryogenesis.[123] Variation in genes encoding the type 1 bone morphogenetic protein receptor (BMPR1A) and Tbox transcription factor 2 leads to superior retinochoroidal coloboma due to incomplete closure of superior ocular sulcus.[4]

Figure 1

Slit-lamp photograph showing superior iris coloboma with microcornea (a), Montage: fundus photograph of right eye showing isolated choroidal coloboma in superotemporal periphery (b)

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