Optical Coherence Tomography Findings in Alport Syndrome

Abstract

We postulate that the structural abnormalities of the ILM due to altered Col4 play a more important role in macular hole formation than hemodynamic alterations characteristic of AS. Several hypotheses could be expounded. Future OCT macular studies involving asymptomatic patients with AS would be useful in detecting and monitoring macular alterations. They would also contribute to a greater knowledge of this disease.

Autologous Retina Transplantation for Treatment of Refractory Double Full-Thickness Macular Hole in Alport Syndrome

“…In patients with Alport syndrome, the genetic defect in collagen type IV present in the basement membranes, specifically in the ILM and the Bruch membrane, can influence the predisposition to develop MHs. 1,2 Different from idiopathic MH, Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Web site (www.retinajournal.com).…”

“…In patients with Alport syndrome, the genetic defect in collagen type IV present in the basement membranes, specifically in the ILM and the Bruch membrane, can influence the predisposition to develop MHs. 1,2 Different from idiopathic MH, these are characterized by their tendency for a larger size, earlier age of presentation, and difficult surgical approach.…”

Missing Internal Limiting Membrane during Macular Hole Repair in Alport Syndrome

“…Specifically, it has been noted that the a3 and a5 chains of type-IV collagen are most effected [ 2 , 3 ]. Ocular features in these patients include recurrent erosion syndrome, posterior polymorphous corneal dystrophy, anterior and posterior lenticonus, microspherophakia, anterior polar cataract, a dull macular reflex (“lozenge sign”), central and peri-macular fleck retinopathy, temporal retinal thinning (“stair-case retina”), peripheral retinoschisis, choroidal thinning, choriocapillaris flow voids, and macular holes [ 2 , 3 , 4 , 5 ].…”

“…The ILM, composed of mostly a3 and a5 type-IV collagen, has been shown to be thin on OCT scans [ 2 ]. Coalescent retinal microcystic cavities enable passage of fluid through an impaired Bruch's membrane [ 4 , 11 , 12 ].…”

Temporal retinal thinning might be an early diagnostic indicator in male pediatric X-linked Alport syndrome

“…In 2004, Usui et al [15] reported an AS patient with symmetrical reduced thickness of the temporal macular area in both eyes, while the visual function of the patient was normal. During the following years, some other researchers reported AS patients with focal zones of inner retinal thinning in the temporal quadrant [16][17][18][19] . In 2013, Ahmed et al [12] suggested using the TTI parameter to assess the degree of retinal temporal thinning in AS patients.…”