Leroy Bart P

Vignal-Clermont Catherine, Yu-Wai-Man Patrick, Newman Nancy J, Carelli Valerio, Moster Mark L, Biousse Valerie et al.

Lenadogene nolparvovec gene therapy for LHON showed good long-term safety. Most ocular side effects were mild, manageable inflammation/IOP, resolving with topical steroids. Systemic tolerability was excellent.

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.

Chung Daniel C, Bertelsen Mette, Lorenz Birgit, Pennesi Mark E, Leroy Bart P, Hamel Christian P et al.

This study found that RPE65-related inherited retinal dystrophy causes progressive vision loss with age, but no genotype-phenotype correlation. Genetic testing is crucial for diagnosis and treatment timing.

Roosing Susanne, van den Born L Ingeborgh, Hoyng Carel B, Thiadens Alberta A H J, de Baere Elfride, Collin Rob W J et al.

Researchers found a new TULP1 gene mutation (p.Arg420Ser) causes cone dysfunction and cone-rod dystrophy, expanding TULP1's known disease spectrum beyond severe early-onset retinal dystrophies.

Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B et al.

This study found that both cone and cone-rod dystrophies lead to legal blindness, with cone-rod dystrophy progressing faster. ABCA4 mutations and early onset predict worse visual outcomes.