Photo Credit: Designer491

A multicentric longitudinal prospective study of the natural history of retinitis pigmentosa due to MYO7A gene variants has demonstrated the key role of fundus autofluorescence patterns in the staging of retinal impairment in MYO7A patients. Moreover, researchers who conducted the study advocate for its adoption as an objective biomarker in patient selection for future gene therapy clinical trials. In the study, 53 patients with Usher syndrome due to MYO7A biallelic pathogenic variants and with visual acuity of at least 20/640 in at least one eye underwent baseline and two annual follow-up visits. At baseline, all subjects presented with decreased best-corrected visual acuity (66.4 ±17.9 ETDRS score; 59.5 ±21.7 ETDRS score in the better- and worse-seeing eyes, respectively), restricted SKVF (III4e area: 3365.8 ±4142.1^°2; 4176.4 ±4400.3^°2) and reduced macular sensitivity (9.7 ±9.9 dB; 9.0 ±10.2 dB). A slightly reduced central macular thickness and a narrowed ellipsoid zone band width were also observed.