MACULAR HOLES, VITELLIFORM LESIONS, and MIDPERIPHERAL RETINOSCHISIS in ALPORT SYNDROME

Akshay S. Thomas, Justin T. Baynham, Christina Flaxel

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Purpose: To describe the retinal findings in two cases of Alport syndrome. Methods: Observational case series. The clinical findings of the two patients were documented with color fundus photography and high resolution spectral domain optical coherence tomography. Results: Patient 1 was found to have fleck retinopathy in both eyes, inner retinal thinning in the right eye and a full-thickness macular hole in the left eye. Patient 2 was found to have a full-thickness macular hole in the right eye as well as retinoschisis in the temporal macula in the right eye. The left eye revealed inner retinal thinning involving the fovea, a vitelliform lesion of the temporal macula and midperipheral retinoschisis involving multiple retinal layers. Conclusion: Retinal abnormalities including fleck retinopathy, retinal thinning, macular holes, retinoschisis, and vitelliform lesions are variably present in Alport syndrome. This is only the second report of a vitelliform lesion in a patient with Alport syndrome and the first report of midperipheral retinoschisis. The array of retinal findings is believed to reflect a dysfunctional Type IV collagen present in the internal limiting membrane and Bruch membrane. Copyringht

Original languageEnglish (US)
Pages (from-to)109-111
Number of pages3
JournalRetinal Cases and Brief Reports
Volume10
Issue number2
DOIs
StatePublished - 2016

    Fingerprint

Keywords

  • Alport syndrome
  • macular hole
  • retinoschisis
  • vitelliform lesion

ASJC Scopus subject areas

  • Ophthalmology

Cite this