Repeatability of Adaptive Optics Automated Cone Measurements in Subjects With Retinitis Pigmentosa and Novel Metrics for Assessment of Image Quality.

Purpose: We determine the intersession repeatability of cone measurements via flood-illuminated adaptive optics (AO) imaging in patients with retinitis pigmentosa (RP), to better differentiate variation due to imaging inaccuracies versus pathology-driven change.

Methods: A total of 25 4° × 4° AO images were acquired three times on the same day in 10 subjects with RP, registered in i2K Retina, and cones were identified using a custom-built MATLAB algorithm. Nine equally spaced regions of interest were selected for each imaging set.

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.

Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis.

Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous mutation in the gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration.