Case #24 – Hereditary Maculopathies

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Case 7: Cirrus™ HD-OCT Image Patient vs. Solar Retinopathy In a confirmed case of solar retinopathy, somewhat similar OCT findings are exhibited. However, in solar retinopathy there is absence of the outer segment-RPE interdigitation1, Verhoeff's membrane2 or “inner reflection” (see page 10) from the RPE complex which correlates to clinical damage to the

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Case 7: Cirrus™ HD-OCT Image Patient vs. Achromatopsia (Case 1) The hyporeflective space is smaller and nasal to the foveal pit in Case 7, unlike the achromat in Case 1. Case 7 is not an achromat since color vision is normal.

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Case 7: Cirrus™ HD-OCT Macula Thickness Measurements OU The central retina is quite thin OU width compared to the normative database.

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Case 7: Cirrus™ HD-OCT Images OU * VISUPAC 481 ZK5 and Pike 145 Note symmetric bilateral lesions nasal to the foveal pit in each eye. These hyporeflective zones are similar to those in the previous cases with achromatopsia but are smaller and not under the fovea. This patient has

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Case 7: Zeiss FF450plus Autofluorescence Fundus Camera* Image of Left Eye * VISUPAC 481 ZK5 and Pike 145 Similar findings are revealed in the left eye. Also, note the hyperautofluorescent perifoveal oval.

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Case 7: Zeiss FF450plus Autofluorescence Fundus Camera* Image of Right Eye * VISUPAC 481 ZK5 and Pike 145 Note the hypoautofluorescent oval Zone in the macula revealed by the FAF image.

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Case 7: Zeiss FF450plus Color Fundus Camera* Image of Left Eye * VISUPAC 481 ZK5 and Pike 145 Stargardt disease should be considered in the differential diagnosis since the patient's older brother has an obvious case of SD (case 8).

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Case 7: "Pathognomic" Hyporeflective Zone w/o Achromatopsia Zeiss FF450plus Color Fundus Camera* Image of Right Eye * VISUPAC 481 ZK5 and Pike 145 Case 12: A 22-year-old male, who had not been previously diagnosed with any macular condition, presented for evaluation of bilateral macular lesions. Patient presented with keratoconus and BCVA with contact lenses

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The sister's horizontal OCT sections appear essentially normal in both eyes. Note the "pathognomonic" sharply delineated rectangular hyporeflective space present in the brother's horizontal OCT section of the right eye. However, the OCT of the brother's left eye reveals a hyporeflective zone that appears "collapsed" towards the RPE with an absent PIL.

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Brother vs. Sister with achromatopsia Zeiss FF450plus Color Fundus Camera* and Cirrus™ HD-OCT Horizontal Scan Images * VISUPAC 481 ZK5 and Pike 145 The brother and sister were both diagnosed with achromatopsia. Both reported vision had been poor since birth with no progression, no color vision, and night vision better than day vision.

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