Case #24 – Hereditary Maculopathies

Hereditary Maculopathies – Page 34 of 74

Case 5: Cirrus™ HD-OCT Horizontal Scan Images OD A horizontal OCT section does not reveal the hyporeflective rectangular space demonstrated in the previous achromatopsia cases. The OCT section reveals a thin retina under the fovea and an absent PIL.

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Hereditary Maculopathies – Page 33 of 74

Case 5: Zeiss FF450plus Enhanced Autofluorescence Fundus Camera* Images OU * VISUPAC 481 ZK5 and Pike 145 The FAF images reveal hypoautofluorescent zones in both eyes. However, only the left eye image has the characteristic dark oval zone seen in the previous achromatopsia cases.

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Hereditary Maculopathies – Page 32 of 74

Case 5: Zeiss FF450plus Color Fundus Camera* Image of Left Eye * VISUPAC 481 ZK5 and Pike 145 Note similar fundus findings in the left eye.

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Hereditary Maculopathies – Page 31 of 74

Case 5: Zeiss FF450plus Color Fundus Camera* Image of Right Eye * VISUPAC 481 ZK5 and Pike 145 Case 5: A 51-year-old male previously diagnosed with achromatopsia. ERGs supported the diagnosis. Vision had been poor since birth with no progression. BCVA measured 20/200 OU.

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Case 4: Incomplete Achromatopsia Cirrus™ HD-OCT Horizontal Scan Images OU The PIL is absent throughout the hyporeflective space in both eyes. The dark oval zone in the enface image of the right eye (see previous page) corresponds to the hyporeflective space in the OCT section. Evidence of possible residual cones shown in

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Hereditary Maculopathies – Page 29 of 74

Case 4: Incomplete Achromatopsia Cirrus™ HD-OCT Enface and OCT Images Case 4: A 16-year-old female diagnosed with incomplete achromatopsia. 2/8 Ishihara plates were passed and BCVA measured 20/60 OD and 20/70 OS. A horizontal OCT section through the fovea reveals a hyporeflective space measuring approximately 800 microns wide in the left eye.

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Hereditary Maculopathies – Page 27 of 74

Case 3: Cirrus™ HD-OCT Horizontal Scan Images OD A horizontal OCT section through the hypoautofluorescent zone (see page 25) reveals a hyporeflective rectangular space with an absent PIL.

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Hereditary Maculopathies – Page 26 of 74

Case 3: Zeiss FF450plus Autofluorescence Fundus Camera* Image of Left Eye * VISUPAC 481 ZK5 and Pike 145 Note similar findings in the left eye.

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Hereditary Maculopathies – Page 25 of 74

Case 3: Zeiss FF450plus Enhanced Autofluorescence Fundus Camera* Image of Right Eye * VISUPAC 481 ZK5 and Pike 145 The FAF image reveals a hypoautofluorescent zone in the macula.

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