Heon Elise

Cideciyan Artur V, Charng Jason, Roman Alejandro J, Sheplock Rebecca, Garafalo Alexandra V, Heon Elise et al.

This study found dark-adapted rod sensitivity, averaged regionally, is the best measure to detect progression in ORF15-RPGR XLRP, progressing ~2 dB/year, crucial for clinical trial design.

Calzetti Giacomo, Levy Richard A, Cideciyan Artur V, Garafalo Alexandra V, Roman Alejandro J, Sumaroka Alexander et al.

This study found that in USH2A patients with the c.2299delG mutation, rod photoreceptors degenerate earlier and faster than cones. Rod-based vision tests are crucial for timely clinical trial monitoring.

Charng Jason, Jacobson Samuel G, Heon Elise, Roman Alejandro J, McGuigan David B, Sheplock Rebecca et al.

Studying pupillary light reflex in severe photoreceptor blindness (LCA) showed a slow, attenuated response. This isolates melanopsin activity, providing a benchmark for assessing retinal ganglion cell function in future therapies.

Heon Elise, Alabduljalil Talal, McGuigan III David B, Cideciyan Artur V, Li Shuning, Chen Shiyi et al.

This study characterized choroideremia, finding visual acuity and central retinal thickness worsen with age (especially after 30), and central OCT abnormalities are universal, even early, highlighting key progression markers.