Case #28 – Chorioretinal Lacunae

Chorioretinal Lacunae – Page 10 of 40

Cirrus™ HD-OCT Horizontal Scan Image of Normal Control OD Although the retinal pigment epithelium (RPE) is only a single layer of cells, it appears as two reflective layers with a dark zone in between on high definition OCT scans. The "inner reflection” has been referred to by some authors as the outer segment-RPE

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Histological Section as Compared to the OCT Image  Although the Photoreceptor Integrity Line, or the PIL (defined as the junction between the inner and outer segments) is barely visible in most histological sections, it is highly prominent in normal SD OCTs. The PIL, as shown above, should be continuous throughout the entire scan

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Case 1: Cirrus™ HD-OCT Horizontal 5-Line Raster Scan Images OS  A normal and intact PIL was also noted in the left eye. The visual acuity reduction ¡n the left eye (20/150) is likely due to the esotropia.

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Case 1: Cirrus™ HD-OCT Horizontal 5-Line Raster Scan Images OD  A horizontal OCT section through the macula reveals a normal and intact photoreceptor integrity line (PIL) as expected since the patient’s visual acuity was 20/20 in the right eye.

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Case 1: Zeiss FF450plus Autofluorescence Fundus Camera* Montage of Left Eye A zone of hypoautofluorescence occupies most of the area of the retinal lesion. Hypoautofluorescence is believed to be due to a decrease of lipofuscin secondary to the loss of the RPE cells. The subtle ring of hyperautofluorescence suggests that the lesion may

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Chorioretinal Lacunae – Page 4 of 40

Case 1: Zeiss FF450plus Color Fundus Camera* Montage of Left Eye Note the large oval chorioretinal lacunae within the superior temporal arcade. The lesion appears as a pseudo-disc. * VISUPAC 481 XK5 and Pike 145

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History/Chief Complaint • A 10-year-old Hispanic female presented for follow-up for a retinal lesion in her esotropic left eye, which was previously diagnosed as a coloboma. Patient reports no change in her vision over the last year. Interestingly, her older sister has similar retinal lesions in her left eye as well. Clinical Findings •

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Zeiss Cirrus 2-Dimentional Movie of Left Eye Note: Buttons at the bottom of the video provide frame-by-frame advancement control. Note as the OCT section proceeds through the lesion several of the retinal layers are absent.

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Chorioretinal Lacunae – Page 1 of 40

Familial Retinal Lesions • Sometimes a fundus abnormality is so unique that the lesion is considered “pathognomonic" of a specific disease or syndrome. • The characteristic "chorloretlnal lacunae” combined with infantile spasms and agenesis of the corpus callosum comprise Aicardi Syndrome (AS). • Here we present two sisters with highly characteristic, if not pathognomonic,

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