Fundus autofluorescence pattern in different cases of cone inherited macular dystrophies

• Published in: Acta ophthalmologica (Oxford, England) Vol. 100; no. S275
• Main Authors: Boned‐Murillo, Ana, Diaz, Maria Dolores, Bartolome, Isabel, Hospital, Elvira Orduna, Gavas, Javier Mateo, Fernández‐Espinosa, Guisela, Pinilla, Maria Sopeña, Lozano, Isabel Pinilla
• Format: Journal Article
• Language: English
• Published: Malden Wiley Subscription Services, Inc 01.12.2022
• Subjects: Mutation; Retina
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/j.1755-3768.2022.0775

Purpose: To study fundus autofluorescence (FAF) with blue light excitation (488 nm) in different cases of cone inherited macular dystrophies an to assess differential characteristics. Methods: We studied different cone inherited retinal dystrophies due primary to ABCA4 mutation with blue FAF and correlate the findings with the clinical impairment. We compared with the findings in other mutations. Results: We presented 9 cases of Stargardt diseases with ABCA4 mutation with different blue FAF characteristics, from single macular impairment with an hypofluorescence, pattern, hyperreflective flecks around the central lesion or flecks extended outside the vascular branches. The extension of the flecks was no correlate with the degree of functional impairment. We compared with other cone dystrophies such as CRX mutation, with similar findings than the ones with only central impairment. Asymptomatic CRX mutation showed a hyperreflective central lesion. Conclusions: FAF is an essential tool to diagnose and follow‐up inherited retinal dystrophies with primary macular manifestation. Same mutation and clinical stage could present different patterns.