Published date: Jul 23 2023

Journal Title: Journal of Ophthalmic and Vision Research

Issue title: July–September 2023, Volume 18, Issue 3

Pages: 328–333

DOI: 10.18502/jovr.v18i3.13781

Saeed KarimiOphthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Science, Tehran, Iran

Niloofar Mohammad Bagheri RafsanjaniLotusmbr@gmail.comOphthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Science, Tehran, Iran

Purpose: To report a case of Alport syndrome presenting with bilateral giant full-thickness macular holes, hypertensive chorioretinopathy, and exudative retinal detachment.

Case Report: A 20 year-old man, a known case of Alport syndrome on hemodialysis, was referred to our clinic with bilateral vision loss initiated about 10 years prior to presentation, which exacerbated in the month prior to our visit. Bilateral large full-thickness macular holes, hypertensive chorioretinopathy, and exudative retinal detachment were detected in fundus examination. The patient had previous genetic counseling confirming the diagnosis of Alport syndrome. During follow-up, macular holes were covered with a thick epiretinal membrane and visual acuity decreased progressively in two weeks. Pars plana vitrectomy was performed in the right eye. Two weeks following surgery, the macular hole was closed and visual acuity improved significantly.

Conclusion: Bilateral giant full-thickness macular holes are uncommon presentations of Alport syndrome. The retinal findings may be caused by an inefficient type IV collagen presenting in the Bruch’s membrane and in the internal limiting membrane. Pars plana vitrectomy can be considered to repair macular holes in these patients.

Keywords: Alport Syndrome; Macular Hole; Pars Plana Vitrectomy

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