Phenotypic characteristics of Danish patients with achromatopsia.
Mette Kjøbæk Gundestrup AndersenMette BertelsenSvend GundestrupKaren GrønskovLine KesselPublished in: Acta ophthalmologica (2024)
Some patients with ACHM demonstrate signs of progressive foveal changes in OCT characteristics with increasing age. This is relevant in terms of possible new treatments. However, functional characteristics, such as visual acuity, remained stable despite changing foveal structure. Thus, seen from a patient perspective, ACHM can still be considered a non-progressive condition.