Circinate Midperipheral Vitelliform Dystrophy With Macular Sparing in the Father of a Patient With Best Disease

Retina, vol. 46, pp. e3–e5

Abstract

We present a unique case of circinate midperipheral vitelliform dystrophy with macular sparing in the asymptomatic father of a proband, both carrying a monoallelic BEST1 pathogenic variant (c.44G>A [p.Gly15Asp]), characterized using multimodal imaging.

Authors 5

1. Anna Paola Salvetti

   University of Milan · Luigi Sacco Hospital

   Affiliation as printed

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy;

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy

2. Camiel J. F. Boon Aachen Department of Ophthalmology, Leiden

   Amsterdam University Medical Centers · Leiden University Medical Center

   Affiliation as printed

   Amsterdam University Medical Center, Department of Ophthalmology, Amsterdam, the Netherlands

   Leiden University Medical Center, Department of Ophthalmology, Leiden, the Netherlands; and

   Leiden University Medical Center, Department of Ophthalmology, Leiden, the Netherlands

3. Alessandro Invernizzi

   University of Milan · Luigi Sacco Hospital

   Affiliation as printed

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy;

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy

4. Giovanni Staurenghi

   University of Milan · Luigi Sacco Hospital

   Affiliation as printed

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy;

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy

5. Francesco Romano corresponding

   University of Milan · Luigi Sacco Hospital

   Affiliation as printed

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy;

   Eye Clinic, Department of Biomedical and Clinical Sciences, Ospedale Luigi Sacco, University of Milan, Milan, Italy