Molecular Vision: Kjellström, Mol Vis 2022; 28:300-316. Table 3

Table 3. Description of fundus photos and FAF images. Subjects highlighted in bold were excluded from the study due to the newly detected pathogenic ABCA4 variants that could be in trans with the one previously found.

Subject	Fundus photos; initial examination	Fundus photos; follow-up	FAF; initial examination	FAF; follow-up
1	normal	↑ OA; small drusen outside the vascular arcades and in the posterior pole along the vessels.	not tested	normal
2	normal	↑ OA; discrete pigmentary changes in the maculae and minimal localized yellowish spots close to the upper vascular arcade RE.	not tested	OA; small foci of reduced AF within the vascular arcades
3	normal	normal	normal	normal
4	normal	normal	normal	normal
5	LE; pigmentary changes in the macula	LE; unchanged pigmentary changes in the macula	LE; hyper-fluorescences in the macula	↑ LE; slightly enlarged area of increased AF in the macula
6	normal	↑ LE; subtle pigmentary changes in the macula	not tested	RE; Small spots of reduced AF temporal to and above the macula. LE; Reduced AF in the macula and small spots of hypofluorescence between the optic disc and macula
7	OA; subtle pigmentary changes in the maculae and along the vascular arcades	OA; unchanged subtle pigmentary changes in the maculae and along the vascular arcades	LE; small spots of increased and reduced AF around the vascular arcades	↑ OA; hyper - and hypo fluorescences around the vascular arcades and in the posterior pole
8 excluded	OA; pigmentary changes in the maculae and deep yellow spots in the posterior pole and mid-periphery	↑ OA; pigmentary changes in the maculae and a bit more wide- spread deep yellow spots in the posterior pole and midperiphery	OA; multiple foci of high and low AF signals	OA; unchanged multiple foci of high and low AF signals
10 excluded	OA; subtle pigmentary changes in the maculae	OA; unchanged subtle pigmentary changes in the maculae	normal	normal
11	normal	normal	normal	normal
12	OA; pigmentary changes in the maculae	↑ OA; pigmentary changes in the maculae, slight progress in the RE	normal	↑ OA; subtle small hypofluorescences in the posterior pole and nasal to the optic disc
13	normal	normal	normal	normal
14	RE; pigmentary changes in the macula	RE; pigmentary changes in the macula	RE; high AF signals in the macula and the temporal midperiphery	↑ RE; More pronounced FAF changes with foci of both increased and reduced AF signals in the macula and the temporal midperiphery LE; small foci of both high and low AF along the vascular arcade close to the optic nerve head