Florijn Ralph J

Kruijt Charlotte C, Gradstein Libe, Bergen Arthur A, Florijn Ralph J, Arveiler Benoit, Lasseaux Eulalie et al.

This study found FHONDA syndrome has a narrower, more severe visual impairment spectrum than albinism, with nystagmus, severe foveal hypoplasia, and misrouting *without* hypopigmentation, suggesting these features aren't solely melanin-dependent.

Nguyen Xuan-Thanh-An, Talib Mays, van Schooneveld Mary J, Wijnholds Jan, van Genderen Maria M, Schalij-Delfos Nicoline E et al.

This 2-year study of CRB1 retinal dystrophies found visual acuity and fields stable, but microperimetry showed significant retinal sensitivity decline. Microperimetry may be a sensitive clinical trial endpoint for progression.

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.

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.