Missing Internal Limiting Membrane during Macular Hole Repair in Alport Syndrome

The aim of this manuscript is to describe a novel retinal finding of Alport syndrome during surgical management of an associated macular hole. A retrospective chart review of a 65-year-old man with a diagnosis of Alport syndrome confirmed by renal biopsy was found to have an associated full-thickness macular hole. Pars-plana vitrectomy surgery with internal limiting membrane (ILM) peeling was attempted, but intraoperatively the ILM was found to be absent at the macula. Alport syndrome may be associated with the absence of the ILM. This can complicate attempts at macular hole repair.

[1]  M. Raimundo,et al.  Bilateral giant macular holes: A rare manifestation of Alport syndrome , 2018, European journal of ophthalmology.

[2]  D. Colville,et al.  Ocular features in Alport syndrome: pathogenesis and clinical significance. , 2015, Clinical journal of the American Society of Nephrology : CJASN.

[3]  B. Lujan,et al.  Autofluorescence and spectral domain OCT findings in Alport syndrome. , 2013, Retinal cases & brief reports.

[4]  G. Hageman,et al.  Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. , 2010, Investigative ophthalmology & visual science.

[5]  S. Sadda,et al.  Comparison of full-thickness traumatic macular holes and idiopathic macular holes by optical coherence tomography , 2010, Graefe's Archive for Clinical and Experimental Ophthalmology.

[6]  A. Adán,et al.  Optical coherence tomography findings in alport syndrome. , 2008, Retinal cases & brief reports.

[7]  W. Rahman,et al.  Giant macular hole in Alport syndrome. , 2007, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

[8]  John J H Miller,et al.  Macular hole surgery in alport syndrome. , 2007, Retinal cases & brief reports.

[9]  John T. Thompson,et al.  Chapter 148 – Macular Hole , 2006 .

[10]  George A. Williams,et al.  Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. , 2003, Retina.

[11]  N. Kumar,et al.  Bilateral macular holes: an unusual feature of alport syndrome. , 2002, Retina.

[12]  J. Feingold,et al.  Estimating prevalence in single-gene kidney diseases progressing to renal failure. , 2000, Kidney international.