Early lamellar macular hole in Alport syndrome: Case report and review of the literature

C. Scassa, G. Cupo, M. Bruno, R. Iervolino, F. Scarinci, C. Giusti

Research output: Contribution to journalArticlepeer-review


Purpose and Method: To present a 26-year-old Italian woman affected by genetically ascertained Alport syndrome. The patient underwent a complete ophthalmological examination including: visual acuity, anterior and posterior segment biomicroscopy, MP1-microperimetry, colour fundus retinography, electrofunctional examinations (electrooculogram, electroretinogram, visually evoked potentials), computerized perimetry and Spectral Domain Optical Cohrence Tomography. Results and Conclusions: Nephritis, haematuria but no hearing impairment was observed. Visual function was normal, also confirmed by electrofunctional tests and computerized perimetry. The ocular involvement was only expressed by an early lamellar macular hole characterized by a density rarefaction in the tomographic images of both inner retina and superficial choroid. A rarefaction of the inner choroid in the whole macular region and in the peripapillary area, unusual for the young age of the patient, was also evident. We suppose that these tomographic findings might be caused by alterations of type IV collagen, typical of Alport syndrome.

Original languageEnglish
Pages (from-to)122-125
Number of pages4
JournalEuropean Review for Medical and Pharmacological Sciences
Issue number1
Publication statusPublished - Jan 2012


  • Alport syndrome
  • Macular hole
  • Optical coherence tomography (OCT)
  • Retina

ASJC Scopus subject areas

  • Medicine(all)
  • Pharmacology (medical)


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