%0 Case Reports
%T Supernormal foveal photoreceptor density in Alport syndrome: A case report.
%A Ameln J
%A Reiniger JL
%A Hess K
%A Holz FG
%A Harmening WM
%J Eur J Ophthalmol
%V 33
%N 4
%D Jul 2023 12
%M 35410511
%F 1.922
%R 10.1177/11206721221093197
%X <B>OBJECTIVE: </B>To investigate foveal photoreceptor configuration in Alport syndrome, a rare inherited disease characterized by Collagen IV dysfunction.<BR><B>METHODS: </B>Adaptive optics scanning laser ophthalmoscope (AOSLO) in vivo imaging of the foveal center and quantitative analysis of cone photoreceptor topography in a 17-year-old male patient with Alport syndrome presenting absence of a foveal avascular zone (FAZ) and foveal hypoplasia in both eyes.<BR><B>RESULTS: </B>Cone density analysis based on AOSLO images revealed an unusual linear cone topography profile displaying supernormal densities within the fovea (z-scores up to + 3.57 and + 2.97 in right and left eyes, respectively).<BR><B>CONCLUSIONS: </B>Foveal hypoplasia has previously been associated with normal or reduced cone density. Our observation is the first case of disease-related supernormal cone density within the foveola, shedding light upon the role of Collagen IV in foveal maturation.