Bilateral Giant Full Thickness Macular Holes: An Infrequent Manifestation of Alport Syndrome

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.

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.