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Year : 2013  |  Volume : 1  |  Issue : 3  |  Page : 187

Retinitis pigmentosa with unilateral choroidal coloboma: A rare association

Department of Ophthalmology, M.G.M. Medical College, Kamothe, Navi Mumbai, India

Date of Web Publication23-Aug-2013

Correspondence Address:
Pallavi Agrawal
601, Galaxy Shelter, Plot no. 109A, Sector 50E, Nerul (W), Navi Mumbai - 400 706
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2320-3897.116856

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How to cite this article:
Agrawal P, Karande PS, Vadhel L, Naheed A. Retinitis pigmentosa with unilateral choroidal coloboma: A rare association. J Clin Ophthalmol Res 2013;1:187

How to cite this URL:
Agrawal P, Karande PS, Vadhel L, Naheed A. Retinitis pigmentosa with unilateral choroidal coloboma: A rare association. J Clin Ophthalmol Res [serial online] 2013 [cited 2023 Jun 8];1:187. Available from: https://www.jcor.in/text.asp?2013/1/3/187/116856


We report a rare case of retinitis pigmentosa (RP) associated with unilateral choroidal coloboma with iris coloboma. To our knowledge, association of choroidal coloboma with typical RP has never been reported before.

A 55-year-old male presented with diminution of vision in left eye (LE), which was gradual, painless, and progressive, for the past 3-4 years. Patient gives history of poor vision in his right eye (RE) since childhood. History of RE cataract surgery performed 1 year back. On examination, best corrected visual acuity (BCVA) RE-perception of light present and projection of rays accurate in all quadrants; BCVA LE-finger counting at 1 meter. Anterior segment RE shows exotropia, clear cornea (horizontal diameter 11 mm, vertical diameter 10.5 mm with calipers) with one suture at the superior limbus and aphakia. Anterior segment LE shows clear cornea and trace mid peripheral posterior subcapsular cataract (visual axis clear). Fundus RE shows typical RP with waxy disc pallor, attenuated blood vessels and bony spicules in periphery and in macula, there is choroidal coloboma present, margins of which lie below the inferior arcade (no macular coloboma) [Figure 1]. Fundus LE shows typical RP with waxy disc pallor, attenuated blood vessels and bony spicules in periphery as well as in macula, there is no choroidal coloboma seen [Figure 2]. Intraocular pressure with Goldman's applanation tonometer is 17 mmHg in both eyes. There are no systemic associations seen. All five siblings and four offsprings of the patient are normal.
Figure 1: Right eye-Typical Retinitis Pigmentosa with Choroidal Coloboma

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Figure 2: Left eye with typical Retinitis Pigmentosa

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Ocular pathologies commonly associated with RP are posterior subcapsular cataract 53%, [1] myopia, glaucoma 2.3%, [2] keratoconus, vitreous detachment with intermediate uveitis and optic disc drusens. Coloboma has not been reported as an association of typical RP.

There is no case report that shows choroidal coloboma in association with RP. Parmeggiani in 2004 reported a series of three adult siblings having phenotypically different RP with macular coloboma, which was autosomal dominant clinical entity; although our case appears to be sporadic. [3]

RP and choroidal coloboma can be separate entities occurring together in this case or it could be a rare association of choroidal coloboma with typical RP, we need to report similar cases/case series to come to a conclusive result. Although this association reported here is the first of its kind to be reported in the ophthalmic literature.

  Acknowledgment Top

We would like to thank Dr. Suresh Ramchandani for his valuable insight and photographic assistance.

  References Top

1.Fishman GA, Anderson RJ, Lourenco P. Prevalence of posterior subcapsular lens opacities in patients with retinitis pigmentosa. Br J Ophthalmol 1985;69:263-6.  Back to cited text no. 1
2.Peng T, Wu L, Zhou W. Retinitis pigmentosa associated with glaucoma-clinical analysis. Yan Ke Xue Bao 1990;6:17-9.  Back to cited text no. 2
3.Parmeggiani F, Milan E, Costagliola C, Giuliano M, Moro A, Steindler P, et al. Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa. Eye (Lond) 2004;18:421-8.  Back to cited text no. 3


  [Figure 1], [Figure 2]

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[Pubmed] | [DOI]


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