Supernormal foveal photoreceptor density in Alport syndrome: A case report

被引：3

作者：

Ameln, Julius ^{[1
]}

Reiniger, Jenny L. ^{[1
]}

Hess, Kristina ^{[1
,2
]}

Holz, Frank G. ^{[1
]}

Harmening, Wolf M. ^{[1
]}

机构：

[1] Univ Bonn, Dept Ophthalmol, Ernst Abbe Str 2, D-53127 Bonn, Germany

[2] NEI, Div Epidemiol & Clin Res, NIH, Bethesda, MD 20892 USA

来源：

EUROPEAN JOURNAL OF OPHTHALMOLOGY | 2023年 / 33卷 / 04期

关键词：

Alport syndrome; retina; foveal hypoplasia; adaptive optics; cone density; supernormal; increased; IDENTIFICATION; MUTATIONS; GENE;

D O I：

10.1177/11206721221093197

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：NP51 / NP54

页数：4

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