Atypical superior iris and retinochoroidal coloboma

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Indian Journal of Ophthalmology

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Volume 66 Issue 10

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Figure 1: (a) Color photograph showing saccular angiomatous lesion with bunch of grapes appearance just above the disc. (b) Fundus fluorescein angiography of the lesion showing hypofluorescence in early phase. (c) Fundus fluorescein angiography showing pooling of dye in upper half of saccule in late phase giving an appearance of “fluorescein cap”

Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Madhu Kumar, Navaneetha Reddy, Vinaya Kumar Konana, Ashok Kanakamedla, Surabhi Ruia1, Jayamadhury Gudimetla Department of Vitreoretina, Sankara Eye Hospital, Pedakakani, Guntur, Andhra Pradesh, 1Department of Vitreoretina and Ocular Oncology, Sankara Eye Hospital, Varthur, Marathahalli, Bengaluru, Karnataka, India Correspondence to: Dr. Madhu Kumar, Sankara Eye Hospital, Guntur Vijayawada Express Highway, Pedakakani, Guntur, Andhra Pradesh, India. E‑mail: [email protected]

References 1. Shields  JA, Shields  CL. Vascular tumors of the retina and optic disc. In: Shields  JA, Shields  CL, editors. Intraocular Tumors, An Atlas and Textbook. 2nd  ed. Philadelphia, PA: Lippincott,

Atypical superior iris and retinochoroidal coloboma 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 [Fig. 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

Williams & Wilkins; 2008. p 382‑9. 2. Gass  JD. Cavernous hemangioma of the retina. A  neuro-oculocutaneous syndrome. Am J Ophthalmol 1971;71:799‑814. 3. Shanmugam PM, Ramanjulu R. Vascular tumors of the choroid and retina. Indian J Ophthalmol 2015;63:133‑40.

This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. Access this article online Quick Response Code:

Website: www.ijo.in DOI: 10.4103/ijo.IJO_852_18 PMID: ***

Cite this article as: Kumar M, Reddy N, Konana VK, Kanakamedla A, Ruia S, Gudimetla J. Fluorescein cap: Fluorescein angiographic feature of retinal cavernous hemangioma. Indian J Ophthalmol 2018;66:1473-4.

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. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have

[Downloaded free from http://www.ijo.in on Saturday, October 13, 2018, IP: 27.62.9.142] October 2018

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Ophthalmic Image

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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

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.

Arvind M Jain, Ratnesh Ranjan, George J Manayath Department of Vitreo‑Retina, Aravind Eye Hospital and Post‑Graduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India Correspondence to: Dr. Arvind M Jain, Department of Vitreo‑Retina, Aravind Eye Hospital and Post‑Graduate Institute of Ophthalmology, Coimbatore ‑ 641 014, Tamil Nadu, India. E‑mail: [email protected]

2. Litwin AS, Hakim J. Unusual chorioretinal defects. Eye 2007;21:879‑80. 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.

This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. Access this article online Quick Response Code:

Website: www.ijo.in DOI: 10.4103/ijo.IJO_531_18 PMID: ***

References 1. Uhumwangho OM, Jalali S. Chorioretinal coloboma in a paediatric population. Eye 2014;28:728‑33.

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