Supernormal foveal photoreceptor density in Alport syndrome: A case report

Autor:	Julius Ameln, Jenny L. Reiniger, Kristina Hess, Frank G. Holz, Wolf M. Harmening
Rok vydání:	2022
Předmět:	Ophthalmology genetic structures sense organs General Medicine eye diseases
Zdroj:	European Journal of Ophthalmology. :112067212210931
ISSN:	1724-6016 1120-6721
DOI:	10.1177/11206721221093197
Popis:	Purpose To investigate foveal photoreceptor configuration in Alport syndrome, a rare inherited disease characterized by Collagen IV dysfunction. Methods 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. Results 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). Conclusion 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab22e5f394ce697bc7e05b5ec97af01 https://doi.org/10.1177/11206721221093197 Zobrazit plný text záznamu