Table 2.

Image pictures, description of structural changes, and clinical diagnosis.

Patient (Gene Variant)	Fundus at Central Retina	Fundus Rat Peripheral Retina	Autofluorescence	OCT	Clinical Diagnosis
F1-II-2 p.Arg46Ter	Subfoveal yellowish deposit	Normal	Hyper-AF of the subfoveal deposit	Hyper-reflective deposit above RPE in the foveal/perifoveal regions	AVMD
F1-II-3 p.Arg46Ter	Subfoveal yellowish deposit	Normal	Hyper-AF of the subfoveal deposit	Hyper-reflective deposit above the RPE in the foveal/perifoveal regions	AVMD
F1-II-4 p.Arg46Ter	Subfoveal yellowish deposit	Normal	Hyper-AF of the subfoveal deposit	Hyper-reflective deposit above the RPE in the foveal/perifoveal regions	AVMD
F2-III-6 PRPH2: p.Arg46Ter ABCA4: p.Leu2027Phe/p.Gly1977Ser	Large confluent areas of CR atrophy, with preserved foveal area	Plaques of CR atrophy	Hypo-AF due to plaques atrophy in macula and periphery of the retina	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE. CRT = 128 μm RE/141 μm LE	Extensive CR atrophy
F3-V-2 PRPH2: p.Lys154del ABCA4: p.Arg2030Gln	Yellow triradiate flecks in the posterior pole	Yellow and gray triradiate flecks in mid-periphery	Some flecks were hyper-AF and others were hypo-AF	Irregular aspect or disruption of the EZ and IZ limited to the foveal region. CRT = 286 μm RE/287 μm LE	Multifocal PD simulating Fundus Flavimaculatus
F4-III-1 p.Gly167Ser	Large confluent areas of CR atrophy, with preserved foveal area	Whitish dots in mid-periphery	Confluent hypo-AF areas involving the optic disc and extending beyond the vascular arcades with speckled points of hypo-AF in the posterior pole and mid-periphery	Areas of outer retinal atrophy, EZ and IZ disrupted at the posterior pole in BE. Hyporeflective cysts at the inner nuclear layers and epiretinal membrane in the LE. CRT = 253 μm RE/252 μm LE	ADRP
F4-IV-1 p.Gly167Ser	Whitish stippling all over the posterior pole	Whitish dots in mid-periphery and small areas of atrophy in far-periphery	Small plaque area of hypo-AF at the fovea with scarce speckled points of hypo-AF and hyper-AF in the posterior pole and mid-periphery	EZ and IZ disrupted at the perifoveal level in BE. CRT = 270 μm RE/272 μm LE	Extensive CR atrophy
F4-IV-2 p.Gly167Ser	Yellow triradiate flecks in the posterior pole	Yellow triradiate flecks in mid-periphery	Macular hypo-AF with speckled hyper-AF and hypo-AF at the posterior pole and mid-periphery	Irregular aspect or disruption of the EZ and IZ limited to the foveal region. CRT = 264 μm RE/266 μm LE	Multifocal PD simulating Fundus Flavimaculatus
F5a-III-2 p.Arg195Leu	Atrophy of both maculae with preserved fovea	Normal	Hypo-AF at the atrophic macular area and speckled hypo-AF within the vascular arcades	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect	CACD
F5a-III-7 p.Arg195Leu	Whitish stippling only in the macular area	Normal	Hypo-AF at the atrophic macular area	Irregular aspect or disruption of the EZ and IZ at the macular region	CACD
F5a-III-8 p.Arg195Leu	Atrophy of both maculae	Normal	Hypo-AF at the atrophic macular area	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect	CACD
F5a-III-10 p.Arg195Leu	Large areas of CR atrophy and whitish stippling within the vascular arcades	Normal	Hypo-AF at the atrophic macular area and speckled hypo-AF within the vascular arcades	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect	CACD
F5b-III-4 p.Arg195Leu	Large confluent areas of CR atrophy in the posterior pole and mid-periphery	Extensive CR atrophy of mid-periphery	Confluent hypo-AF areas involving the optic disc and extending beyond the vascular arcades with speckled points of hypo-AF in the posterior pole and mid-periphery	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE	Extensive CR atrophy
F5b-IV-1 p.Arg195Leu	Whitish stippling all over the posterior pole of BE with macular atrophy (>LE)	Whitish dots in mid-periphery	Small plaque areas of hypo-AF with scarce speckled points of hypo-AF in the posterior pole and mid-periphery	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect, EZ and IZ disrupted at the posterior pole in BE. CRT = 174 μm RE/184 μm LE	Extensive CR atrophy
F5b-IV-2 p.Arg195Leu	Atrophy of both maculae with preserved fovea	Normal	Speckled points of hypo-AF in the posterior pole	Retinal thinning of the macular region. CRT = 205 μm RE/213 μm LE	CACD
F5b-IV-4 p.Arg195Leu	Large confluent areas of CR atrophy, with preserved foveal area at the beginning	Plaques of CR atrophy in mid-periphery	Confluent hypo-AF areas involving the optic disc and extending beyond the vascular arcades with speckled points of hypo-AF in the posterior pole and mid-periphery	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect, EZ and IZ disrupted at the posterior pole in BE. CRT = 220 μm RE/214 μm LE	Extensive CR atrophy
F5c-IV-4 p.Arg195Leu	Atrophy of both maculae	Small areas of CR atrophy in the RE	Small plaque areas of hypo-AF in the posterior pole BE and in the mid-periphery RE	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect. CRT = 179 μm RE/191 μm LE	CACD
F5c-V-2 p.Arg195Leu	Very small, whitish dots all over the posterior pole	Very small, shining, whitish dots in mid-periphery	Speckled points of hypo-AF in the posterior pole and mid-periphery	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect, EZ and IZ disrupted at the posterior pole in BE	Extensive CR atrophy
F5c-VI-2 p.Arg195Leu	Very small, whitish dots all over the posterior pole	Very small, shining, whitish dots in mid-periphery	Speckled points of hypo-AF in the posterior pole and mid-periphery	Retinal thinning of the macular region	Extensive CR atrophy
F5d-VI-1 p.Arg195Leu	Large confluent areas of CR atrophy, with preserved foveal area at the beginning	Small areas of CR atrophy in BE	Large plaque areas of hypo-AF in the posterior pole and small plaque areas in mid-periphery	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE	ADRP
F6-I-5 p.Val209Ile	Subfoveal yellowish deposit that evolved to macular atrophy	Normal	Hyper-AF first, followed by macular hypo-AF	Hyper-reflective deposit above the RPE in the foveal region followed by outer retinal atrophy of the macular region. CRT = 179 μm RE/164 μm LE	AVMD
F6-II-2 p.Val209Ile	Drusen-like deposits nasal to fovea in the LE	Normal	Juxtafoveal hypo-AF spots	Small scarce hyper-reflective deposit above the RPE in the perifoveal region. CRT = 226 μm RE/226 μm LE	AVMD
F7-III-1 p.Pro216Ser	CR atrophy (>LE)	CR atrophy and pigmentation in spicules	Hypo-AF in macula and periphery of the retina	Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE. Hyporeflective cysts at the inner nuclear layer and lamellar macular hole in the LE. CRT = 188 μm RE/258 μm LE	ADRP
F8-II-2 c.824_828+3delinsCATTTGGGCTCCTCATTTGG	Subfoveal yellowish deposit	Normal	Hyper-AF deposit in RE and hypo-AF in LE	Hyper-reflective deposit above the RPE in the foveal/perifoveal regions	AVMD

OCT, optical coherence tomography; F, family; C, case; CR, chorioretinal; LE, left eye; RE, right eye; BE, both eyes; AF, autofluorescence; EZ, ellipsoid zone; IZ, interdigitation zone; CRT, central retinal thickness; RPE, retinal pigment epithelium; ADRP, autosomal-dominant retinitis pigmentosa; AVMD, adult-onset vitelliform macular dystrophy; CACD, central areolar choroidal dystrophy; PD, pattern dystrophy.