Case #24 – Hereditary Maculopathies

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Case 9: RNFL Thickness Measurements with Cirrus™ HD-OCT Retinal nerve fiber layer (RNFL) abnormalities can be easily documented with the Cirrus™ and are in general agreement with the degree of optic disc cupping. For example, the inferior temporal RNFL defect is in concordance with the inferior temporal notch OS.

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Case 9: Stargardt Disease Cirrus™ HD-OCT Images OU The blue horizontal section through the fovea in both images reveals the extremely thin macula. Bruch's membrane is "unmasked" and is well visualized in grey scale images because of the extreme attenuation of the RPE. For a complete case report on this patient please see:

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Case 9: Stargardt Disease Zeiss FF450plus Color Fundus Camera* Images OU Case 9: A 46-year-old female presented for follow-up for Stargardt macula degeneration diagnosed decades earlier and normal tension glaucoma more recently detected. BCVA measured 10/400 OU.

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"Pathognomonic" Sign Documentation of the "pathognomonic' sign in achromatopsia was first published in the book: Photoreceptor Integrity Line As Revealed by Spectral Domain OCT in Chapter 2: Achromatopsia/Rod Monochromatism. More recently, another case has been published in the book: The Retinal Atlas by Lawrence A. Yannuzzi. The sharply delineated rectangular hyporeflective space (Case

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Case 8: Cirrus™ HD-OCT Macula Thickness Measurements OU The OCT exhibits a very thin central retina in both eyes, as illustrated by the red central zones

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Case 8: Cirrus™ HD-OCT Images OU Note the dramatic loss of the outer retina centrally in both eyes. Both the PIL and ELM appear to collapse and disappear in the central retina OU. These findings are somewhat typical of SD.

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Case 8: 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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Case 8: Zeiss FF450plus Autofluorescence Fundus Camera* Image of Right Eye * VISUPAC 481 ZK5 and Pike 145Typical FAF findings of Stargardt disease (SD) are demonstrated.

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Case 8: Stargardt Disease Zeiss FF450plus Color Fundus Camera* Image of Right Eye  * VISUPAC 481 ZK5 and Pike 145Case 8: A 26-year-old male diagnosed with Stargardt disease and who is also the brother of the previous patient, Case 7. Patient's visual acuity was 20/20 as a teen, but first noted vision loss at age

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