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OPHTHALMIC IMAGE
Year : 2018  |  Volume : 66  |  Issue : 10  |  Page : 1474-1475

Atypical superior iris and retinochoroidal coloboma


Department of Vitreo-Retina, Aravind Eye Hospital and Post-Graduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India

Date of Web Publication24-Sep-2018

Correspondence Address:
Dr. Arvind M Jain
Department of Vitreo-Retina, Aravind Eye Hospital and Post-Graduate Institute of Ophthalmology, Coimbatore - 641 014, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_531_18

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How to cite this article:
Jain AM, Ranjan R, Manayath GJ. Atypical superior iris and retinochoroidal coloboma. Indian J Ophthalmol 2018;66:1474-5

How to cite this URL:
Jain AM, Ranjan R, Manayath GJ. Atypical superior iris and retinochoroidal coloboma. Indian J Ophthalmol [serial online] 2018 [cited 2019 Dec 6];66:1474-5. Available from: http://www.ijo.in/text.asp?2018/66/10/1474/242020



A 38-year-old female presented with complains of right eye defective vision since childhood with best corrected visual acuity right-eye 6/9 and left-eye 6/6. Right-eye anterior segment showed superior iris coloboma with fundus showing atypical superior retinochoroidal coloboma [Figure 1]. Presence of typical iris and retinochoroidal coloboma is a relatively common finding resulting from the failure of the choroidal fissure closure during embryogenesis.[1] Atypical superior coloboma of iris and retinochoroid layer is a rare condition.[2],[3] Recently, a study has proposed that superior retinochoroidal coloboma results from defective closure of superior ocular sulcus (a structure not defined in conventional model of ocular development) which results from the variation in gene encoding the type 1 bone morphogenetic protein (Bmp) receptor (BMPR1A) and T-box transcription factor 2(TBX2).[3] To our knowledge, this is the first case describing coexistence of superior colobomas of both iris as well as retinochoroid, and hence, supports the role of defective closure of superior ocular sulcus in the pathogenesis.
Figure 1: (a) right eye pharmacologically dilated pupil with deficient iris tissue supero-temporally; (b) retino-choroidal coloboma, supero-temporal to optic disc with well demarcated pigmented margins

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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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Uhumwangho OM, Jalali S. Chorioretinal coloboma in a paediatric population. Eye 2014;28:728-33.  Back to cited text no. 1
    
2.
Litwin AS, Hakim J. Unusual chorioretinal defects. Eye 2007;21:879-80.  Back to cited text no. 2
    
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. 3
    


    Figures

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