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Year : 2020  |  Volume : 68  |  Issue : 5  |  Page : 921

Unusual superior iris and retinochoroidal coloboma

Advanced Eye Centre, Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Date of Web Publication20-Apr-2020

Correspondence Address:
Dr. Reema Bansal
Advanced Eye Center, PGIMER, Room No. 116 Advanced Eye Center PGIMER, Chandigarh - 160 012
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1876_19

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How to cite this article:
Kumar N, Valliappan A, Bansal R. Unusual superior iris and retinochoroidal coloboma. Indian J Ophthalmol 2020;68:921

How to cite this URL:
Kumar N, Valliappan A, Bansal R. Unusual superior iris and retinochoroidal coloboma. Indian J Ophthalmol [serial online] 2020 [cited 2020 Jun 4];68:921. Available from: http://www.ijo.in/text.asp?2020/68/5/921/282948

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 [Figure 1]a. The fundus examination showed isolated superior retinochoroidal coloboma [Figure 1]b. The typical inferior iris and retinochoroidal coloboma occurs due to the failure of closure of choroidal fissures during embryogenesis.[1],[2],[3] 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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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Uhumwangho OM, Jalali S. Chorioretinal coloboma in a paediatric population. Eye 2014;28:728-33.  Back to cited text no. 1
Litwin AS, Hakim J. Unusual chorioretinal defects. Eye 2007;21:879-80.  Back to cited text no. 2
Atypical superior iris and retinochoroidal coloboma. Indian J Ophthalmol 2018;66:1474-5.  Back to cited text no. 3
Hocking JC, Famulski JK, Yoon KH, Widen SA, Bernstein CS, Koch S, et al. Morphogenetic defects underlie superior coloboma, a newly identified closure disorder of the dorsal eye. PLoS Genet 2018;14:e1007246.  Back to cited text no. 4


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