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Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 399-401

Familial exudative vitreoretinopathy with retinitis pigmentosa: A rare association

1 Department of Vitreo Retina, Aditya Birla Sankara Nethralaya, Kolkata, West Bengal, India
2 Department of Vitreo Retina, Netralayam, Kolkata, West Bengal, India

Correspondence Address:
Rupak Roy
Aditya Birla Sankara Nethralaya, 147, Mukundapur, E.M.Bypass, Kolkata-700 099, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_3316_22

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Familial exudative vitreoretinopathy (FEVR) is a rare inherited slowly progressive disorder characterized by failure of vascularization of the peripheral retina and poor vascular differentiation. Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous inherited retinal disorders characterized by diffuse progressive dysfunction of predominantly rod photoreceptors with subsequent involvement of cone photoreceptors. A 13-year-old boy presented with nyctalopia and low vision for 10 years. Fundus evaluation showed retinal pigmentary changes in the mid-periphery. The fundus fluorescein angiogram showed straightening of retinal vessels, vascular leakage, and avascularity of the peripheral retina, suggestive of FEVR. Full-field electroretinogram (FFERG) showed grossly reduced scotopic and photopic responses in both eyes, pointing toward retinitis pigmentosa (RP). To the best of our knowledge, this case is the second one internationally, and the first in India to show the coexistence of FEVR and RP in the same patient.

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