Thiadens Alberta A H J

Bonnemaijer Pieter W M, Lo Faro Valeria, Sanyiwa Anna J, Hassan Hassan G, Cook Colin, Van de Laar Suzanne et al.

This study found Sub-Saharan Africans with glaucoma present younger with more severe disease (worse vision, higher pressure, larger optic nerve damage), highlighting a more aggressive course.

Talib Mays, van Schooneveld Mary J, Wijnholds Jan, van Genderen Maria M, Schalij-Delfos Nicoline E, Talsma Herman E et al.

This study of CRB1-RD patients found variable visual function and structural changes despite severe disease. This variability suggests imaging and functional tests are crucial for defining clinical trial endpoints, especially given the range of phenotypes.

Bonnemaijer Pieter W M, Cook Colin, Nag Abhishek, Hammond Christopher J, van Duijn Cornelia M, Lemij Hans G et al.

Genetic African ancestry was linked to thinner corneas and higher intraocular pressure in glaucoma patients, suggesting corneal thickness may not be a glaucoma risk factor in those with high African ancestry.

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, Slingerland Niki W R, Florijn Ralph J, Visser Gerhard H, Riemslag Frans C, Klaver Caroline C W

This study found cone-rod dystrophy (CRD) in a Danon disease family, a novel manifestation causing progressive vision loss. This highlights the need for comprehensive eye exams in Danon patients.

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.