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Can I read Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome on EtoBox?
Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome by Kristina Hess; Maximilian Pfau; Maximilian W. M. Wintergerst; Karin U. Loeffler; Frank G. Holz; Philipp Herrmann is a Medicine article available to read on EtoBox.
What is Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome about?
## Purpose To investigate characteristics of the foveal pit and the foveal avascular zone (FAZ) in patients with Alport syndrome (AS), a rare monogenetic disease due to mutations in genes encoding for collagen type IV. ## Methods Twenty-eight eyes of nine patients with AS, and five autosomal-recessive carriers and 15 eyes from 15 age-similar healthy control subjects were examined using optical coherence tomography (OCT) and OCT-angiography (OCT-A). Foveal configuration and FAZ measures including the FAZ area, circularity, and vessel density in the central 1° and 3° were correlated. ## Results Foveal hypoplasia was found in 10 eyes from seven patients with either genotype. In contrast, a staircase foveopathy was found in seven eyes of four X-linked AS patients. The average FAZ area did not differ significantly between AS patients and control subjects (mean ± SD 0.24 ± 0.24 mm^2^ vs. 0.21 ± 0.09 mm^2^; __P__ = 0.64). Five eyes showed absence or severe anomalies of the FAZ with crossing macular capillaries that was linked to the degree of foveal hypoplasia on OCT images leading to a significant inverse correlation of FAZ area and foveal thickness (__r__ = −0.88; __P__ < 0.001). In con
Who reads Phenotypic Spectrum of the Foveal Configuration and Foveal Avascular Zone in Patients With Alport Syndrome?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Kristina Hess; Maximilian Pfau; Maximilian W. M. Wintergerst; Karin U. Loeffler; Frank G. Holz; Philipp Herrmann
- Publisher
- Association for Research in Vision and Ophthalmology (ARVO)
- Published
- 2020
- Language
- EN
- Field
- Medicine (Health Sciences)