Maguire Albert M

Bennett Jean, Aleman Elena M, Maguire Katherine H, Nadelmann Jennifer, Weber Mariejel L, Maguire William M et al.

This VR-O&M test reliably distinguished IRD patients from normals, showing IRDs impair functional vision. It's a promising tool for objectively assessing IRD progression and treatment effects.

Maguire Albert M, Russell Stephen, Chung Daniel C, Yu Zi-Fan, Tillman Amy, Drack Arlene V et al.

Voretigene neparvovec's benefits in RPE65-mediated retinal disease, including improved navigation and light sensitivity, were maintained for 3-4 years with a good safety profile, confirming its long-term efficacy.

Aleman Tomas S, Uyhazi Katherine E, Serrano Leona W, Vasireddy Vidyullatha, Bowman Scott J, Ammar Michael J et al.

RDH12 mutations cause severe pediatric retinal degeneration, primarily affecting central vision and cones, yet rods are relatively spared, suggesting potential gene therapy targets in preserved peripheral retina.

Latkany Paul A, Jabs Douglas A, Smith Justine R, Rosenbaum James T, Tessler Howard, Schwab Ivan R et al.

This study found familial juvenile systemic granulomatosis often presents with panuveitis and multifocal choroiditis, distinguishing it from juvenile rheumatoid arthritis. Consider FJSG in children with arthritis, family history, and choroiditis.