Cone Density Is Correlated to Outer Segment Length and Retinal Thickness in the Human Foveola.

Purpose: Assessment of the relationship between in vivo foveolar cone density, cone outer segment length (OSL), and foveal retinal thickness (RT). Methods: Foveolar cone density maps covering the central ±300 µm of the retina were derived from adaptive optics scanning laser ophthalmoscopy images. The corresponding maps of foveal cone OSL and RT were derived from high-resolution optical coherence tomography volume scans. Alignment of the two-dimensional maps containing OSL and RT with the cone density map was achieved by placing the location of maximum OSL on the cone density centroid (CDC). Results: Across 10 participants (27 ± 9 years; 6 female), cone density at the CDC was found to be between 147,038 and 215,681 cones/mm². The maximum OSL and minimum RT were found to lie between 31 and 40, and 193 and 226 µm, respectively. A significant correlation was observed between cone density at the CDC and maximum OSL (P = 0.001), as well as the minimal RT (P < 0.05). Across all participants, the best fit for the relationship between normalized cone density and normalized OSL within the central 300 µm was given by a quadratic function. Conclusions: Using optical coherence tomography-derived measurements of OSL enables to estimate CDC cone density and two-dimensional foveal cone density maps for example in patient eyes unsuitable for adaptive optics imaging. Furthermore, the observation of a fixed relationship between the normalized OSL and cone density points to a conserved mechanism shaping the foveal pit.

Supernormal foveal photoreceptor density in Alport syndrome: A case report.

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.