Retinal neovascularization and peripheral tractional detachment in Bardet-Biedl Syndrome: Report of a case

Ramesh Venkatesh; Umesh Chandra Behera; Ramasamy Kim

doi:10.4103/2320-3897.149368

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Year : 2015 | Volume : 3 | Issue : 1 | Page : 31-32

Retinal neovascularization and peripheral tractional detachment in Bardet-Biedl Syndrome: Report of a case

Ramesh Venkatesh, Umesh Chandra Behera, Ramasamy Kim
Retina-Vitreous Service, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India

Date of Submission	24-Nov-2013
Date of Acceptance	21-May-2014
Date of Web Publication	14-Jan-2015

Correspondence Address:
Ramesh Venkatesh
Retina-Vitreous Service, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/2320-3897.149368

Abstract

A 12-year-old boy presents with difficulty in night vision since 2 months. Physical examination showed polydactyly, obesity, and mental retardation. Ophthalmic evaluation with slit lamp biomicroscopy, indirect ophthalmoscopy, RetCam imaging, and electrophysiological tests were suggestive of Bardet Biedl syndrome with pigmentary retinopathy with associated vitreous hemorrhage and peripheral tractional retinal detachment. This case report shows the rare association of vitreous hemorrhage and peripheral tractional detachment in retinitis pigmentosa. Treatment with laser photocoagulation and cryotherapy to the avascular retina may be required for preventing the further deterioration of the condition.

Keywords: Bardet-Biedl syndrome, retinal neovascularization, retinitis pigmentosa

How to cite this article:
Venkatesh R, Behera UC, Kim R. Retinal neovascularization and peripheral tractional detachment in Bardet-Biedl Syndrome: Report of a case . J Clin Ophthalmol Res 2015;3:31-2

How to cite this URL:
Venkatesh R, Behera UC, Kim R. Retinal neovascularization and peripheral tractional detachment in Bardet-Biedl Syndrome: Report of a case . J Clin Ophthalmol Res [serial online] 2015 [cited 2022 May 25];3:31-2. Available from: https://www.jcor.in/text.asp?2015/3/1/31/149368

Bardet Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by obesity, polydactaly, pigmentary retinopathy, learning disabilities, intellectual impairment, hypogonadism, and renal abnormalities. ^[1] Presence of any four of the five cardinal features confirms the diagnosis of BBS. The most common ocular finding in BBS is retinal dystrophy; typically, retinitis pigmentosa (RP). Retinal neovascularization, vitreous hemorrhage, and peripheral tractional retinal detachment (TRD) in RP has rarely been described. This case report presents a rare association of retinal neovascularization, vitreous hemorrhage, and TRD in a case of RP with BBS.

Case Report

A 12-year-old boy was referred to the retina clinic with complaints of difficulty in vision, more in the night since the past two months in both eyes (BE). Best corrected visual acuity (BCVA) in the right eye (RE) 6/36, N9 and in left eye (LE) 1/60, < N36 with a myopic refraction of −9D sph in BE. Anterior segment evaluation of the right eye was unremarkable. Left eye showed a posterior subcapsular cataract. The child was extremely unco-operative for fundus evaluation. On examination under anesthesia, fundus evaluation by indirect ophthalmoscopy of both eyes showed pale optic discs, attenuated retinal vessels, and bony corpuscular pigmentation along the retinal vasculature. In addition, LE fundus showed retinal hemorrhages, minimal vitreous hemorrhage, and peripheral TRD in the infero-temporal quadrant [Figure 1]a and b]]. No retinal breaks were noted. There were no signs of posterior segment inflammation. Electroretinography showed completely extinguished rod and cone responses. Fluoroscein angiography using the RETCAM II confirmed multiple areas of retinal neovascularization and capillary non perfusion areas in left eye [Figure 1]c and d]]. Areas of retinal capillary non-perfusion were noted in the right eye. History of parental consanguinity was present. The patient's birth history was normal. Retinal evaluation of the parents was normal. Physical development of the child was normal for the chronological age but mental development lagged behind the normal range. Physical body examination showed obesity of the head, trunk, and limbs and presence of polydactyly. Systemic investigations were unremarkable. In this case, the external features were typical of BBS. A diagnosis of BBS with RP was made. Patient underwent transscleral cryo treatment to the avascular retina anterior to the tractional retinal detachment. At last follow-up 6 months following treatment, fundus examination showed no progression of the retinal detachment with features of RP and resolving vitreous hemorrhage.

Figure 1: Retinal neovascularization and peripheral tractional retinal detachment with retinitis pigmentosa in Bardet Biedl syndrome (BBS). (a, b) Color fundus both eyes (BE) showing the waxy disc pallor, arteriolar vessel attenuation, and bony corpuscular pigmentation in the mid-retinal periphery, suggestive of retinitis pigmentosa. (b) Vitreous hemorrhage and peripheral tractional retinal detachment (RD) is noted in the left eye. (c, d) Fluoroscein angiogram showing early hyperfluoroscence with increasing intensity and size in the late phase indicative of retinal neovascularization (timer in seconds included). Areas of capillary non-perfusion are seen

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Discussion

The common retinal vascular changes described in RP include macular edema, exudative vasculopathy, or a Coats disease-like response and very rarely retinal neovascularization. ^[2,3] The exact pathogenesis of retinal neovascularization in RP is unknown though retinal vascular narrowing, capillary non-perfusion, and intraocular inflammation have been attributed as the possible mechanisms. Isolated case reports of retinal neovascularization elsewhere and/or optic disc in association with RP and Leber's congenital amourosis have been reported. ^[4],[5],[6] In our case, retinal neovascularization and peripheral tractional retinal detachment have been noted very early in the presentation of the condition, thus suggesting that the mechanism of retinal vascular narrowing and capillary non-perfusion in RP commence much before the manifestations of the clinical features. We report a rare clinical finding of peripheral retinal neovascularization and peripheral TRD in a case of RP associated with BBS. Early recognition of this clinical feature and prompt management with laser photocoagulation and/or trans scleral cryo can prevent the development of tractional retinal detachment and further visual deterioration.

References

1.	Andrade LJ, Andrade R, Franca CS, Bittencourt AV. Pigmentary retinopathy due to Bardet-Biedl Syndrome: Case report and literature review. Arg Bras Oftalmol 2009;72:694-6.
2.	Ffytche TJ. Cystoid maculopathy in retinitis pigmentosa. Trans Ophthalmol Soc UK 1972;92:265-83. [PUBMED]
3.	Notting JG, Deutman AF. Leakage from retinal capillaries in hereditary dystrophies. Doc Ophthalmol 1976;9:439.
4.	Uliss AE, Gregor ZJ, Bird AC. Retinitis pigmentosa and retinal neovascularization. Ophthalmology 1986;93:1599-603. [PUBMED]
5.	Kurz D, Ciulla TA. Leber congenital amaurosis associated with optic disk neovascularisation and vitreous hemorrhage. Am J Ophthalmol 2003;135:723-5.
6.	Kadayifçilar S, Eldem B, Kiratli H. Retinitis pigmentosa associated with peripheral sea fan neovascularisation. Acta Ophthalmol Scand 2000;78:593-5.