Ординатура / Офтальмология / Английские материалы / Atlas of Fundus Autofluorescence Imaging_Holz, Schmitz-Valckenberg, Spaide, Bird_2007

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Fig. 9.7  Three examples of typical retinal manifestation in maternal inherited diabetes and deafness (MIDD) syndrome. Top row: Left eye of 48-year-old man; middle and bottom rows: right and left eyes of 52-year-old man. Genetic testing confirmed mitochondrial DNA nucleotide A3243G point mutation in both patients [1, 12]. Fundus photography shows irregular patches of paramacular atrophy, pale sub-retinal deposits, and pigment clumping with sparing of the foveal center. Using fundus autofluorescence imaging, pericentral circumferential atrophy is clearly visualized by decreased intensity. There is diffuse irregular autofluorescent adjacent to atrophy. Note that both the peripapillary region and the foveal center appear to exhibit normal background signal

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Fig. 9.8  Macular dystrophy. Fundus photographs and fundus autofluorescence (FAF) images of a 50-year-old man. No prominent abnormalities can be observed on fundus photography, whereas FAF imaging shows severe alterations in the central macula with levels of decreased and increased intensities. Note the symmetrical pattern between the eyes. The FAF montage shows that the disease appears to be limited to the central macula, which is consistent with electrophysiological findings disclosing an abnormally pattern electroretinogram but a normal Ganzfeld electroretinogram

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Fig. 9.9  Dominantly inherited pattern dystrophy. Fundus photographs and fundus autofluorescence (FAF) images of a mother (first and second rows) and son (third and fourth rows) from a family with known autosomal-dominant pattern dystrophy (mutation: RDS Arg172Trp) [16]. The mother had reduced vision for years. Autofluorescence imaging shows extensive changes with levels of increased and decreased intensity involving the entire macula. A parafoveal ring of increased intensity is also present. The 17-year-old son had no visual complaints (visual acuity 6/6 in both eyes). Although fundus photographs reveal no obvious abnormality, autofluorescent imaging shows an oval area of marked increased intensity in the center of the macula. Hence, this example demonstrates the abilities of FAF imaging to identify an abnormal phenotype when it is not otherwise evident

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Fig. 9.10  Dominantly inherited pattern dystrophy. Top and middle rows: Nearinfrared reflectance and corresponding fundus autofluorescence (FAF) images of a 55-year-old woman with pattern dystrophy (mutation in the peripherin/ RDS gene) [17]. Autofluorescence imaging shows a bilateral butterfly-shaped area of increased intensity. There are also speckled areas of decreased signal inside the central lesion, indicating incipient atrophy. Bottom row: FAF images of a patient with pattern dystrophy presenting with a different phenotype. A mac- ro-reticular pattern with areas of increased autofluorescence is observed. Small areas of parafoveal atrophy are characterised by markedly decreased intensity and can be clearly distinguished from decreased autofluorescence because of macula pigment absorption

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Fig. 9.11  Dominantly inherited macular dystrophy. Top and middle rows: Fundus photographs and fundus autofluorescence (FAF) images of a 23-year-old woman with no visual complaints. Visual acuities were 6/5 in both eyes. Fundus photographs show subtle central yellow deposits. The autofluorescence signal is markedly abnormal, exhibiting areas of increased intensity and therefore strongly suggestive of an abnormal phenotype. Bottom row: FAF images of the woman’s mother (60 years old at presentation, visual acuity 6/36 in both eyes), showing central retinal pigment epithelium atrophy surrounded by areas of irregularly increased intensity. She had noticed visual problems at 46 years of age. Her own mother lost vision with age, implying a dominant inheritance pattern with affection in three generations