Roman Alejandro J

Cideciyan Artur V, Neuhauser Hongsong, Roman Alejandro J, Aleman Tomas S

FST sensitivity is driven by the healthiest retinal regions, not peripheral photoreceptors sensing scattered light, confirming its utility for assessing visual function in severe retinal diseases.

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.

Garafalo Alexandra V, Calzetti Giacomo, Cideciyan Artur V, Roman Alejandro J, Saxena Supna, Sumaroka Alexander et al.

This study found that in NR2E3 gene mutation patients, S-cone sensitivity declines 2.6 times faster than L/M-cones, with distinct progression patterns. This finding offers a crucial monitor for future clinical trials and targeted therapies.

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.

Aguirre Geoffrey K, Butt Omar H, Datta Ritobrato, Roman Alejandro J, Sumaroka Alexander, Schwartz Sharon B et al.

GUCY2D-LCA patients, despite preserved retinal structure, show severe visual impairment, V1 gray matter thickening, and altered brain function. However, optic chiasm and radiation integrity suggest potential for gene therapy.

McGuigan David B, Roman Alejandro J, Cideciyan Artur V, Matsui Rodrigo, Gruzensky Michaela L, Sheplock Rebecca et al.

This study developed an automated perimetry method to measure rod and cone function in inherited retinal degenerations. It found this practical approach closely matched existing methods, offering a convenient tool for clinical trials.

Jacobson Samuel G, Cideciyan Artur V, Gibbs Dan, Sumaroka Alexander, Roman Alejandro J, Aleman Tomas S et al.

USH1B (MYO7A) causes regional visual loss, variable rod decline, and slower cone loss, often preserving the temporal periphery. This preserved area is a potential target for gene therapy.

Jacobson Samuel G, Cideciyan Artur V, Aleman Tomas S, Sumaroka Alexander, Roman Alejandro J, Swider Malgorzata et al.

AIPL1 gene mutations cause severe foveal cone loss, but some macular photoreceptors and impaired rod function remain, suggesting late-onset cases may benefit from gene therapy.

Aleman Tomas S, Soumittra Nagasamy, Cideciyan Artur V, Sumaroka Alexander M, Ramprasad Vedam Lakshmi, Herrera Waldo et al.

CERKL gene mutations cause an autosomal recessive cone-rod dystrophy with widespread retinal degeneration, prominent maculopathy, and inner retinal involvement in later stages, impacting vision severity.