title: Early lamellar macular hole in Alport syndrome: case report and review of the literature.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Bietti Eye Foundation IRCCS, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Scassa
authors.forename: G
authors.initials: G
authors.lastname: Cupo
authors.forename: M
authors.initials: M
authors.lastname: Bruno
authors.forename: R
authors.initials: R
authors.lastname: Iervolino
authors.forename: F
authors.initials: F
authors.lastname: Scarinci
authors.forename: C
authors.initials: C
authors.lastname: Giusti
mesh_terms: D000328:Adult; D002829:Choroid / Q000473:pathology; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D009394:Nephritis, Hereditary / Q000150:complications* / Q000473:pathology*; D012160:Retina / Q000473:pathology; D012167:Retinal Perforations / Q000209:etiology* / Q000473:pathology*; D014787:Vision Tests; D014792:Visual Acuity