2026-04-21T15:05:20Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/2455-8702.000026 2016-07-13 PTZ.IJCMS:VOL3

Peripheral Circumferential Chorioretinal Atrophy in a Patient with Alagille Syndrome Shinji Makino Hironobu Tampo CO<p>The patient was a 15-year-old girl with an established diagnosis of Alagille syndrome (AS) since early life.&nbsp; Her medical history was significant for systemic manifestations of AS including liver transplantation and pulmonary artery balloon dilation. She had an unusual triangular facies characterized by a broad&nbsp; overhanging&nbsp;forehead, deep set, hyperteloric eyes and small pointed chin. Her bestcorrected&nbsp;visual acuity was 1.0 in both eyes. Slit-lamp examination was positive for posterior embryotoxon in both eyes.&nbsp; Funduscopy&nbsp;revealed diffuse choroidal hypopigmentation with increased visibility of the choroidal vessels and symmetric, well-circumscribed macular&nbsp;discoloration (Figure 1). A circumferential chorioretinal atrophy&nbsp;was also detected in the peripheral retina (Figure 1). Fundus autofluorescence (FAF) imaging clearly defined hypofluorescent&nbsp;areas in the peripapillary regions that extended along the macula and had a sleep mask appearance (Figure 2). Peripheral circumferential chorioretinal atrophy was also clearly&nbsp; etected (Figure 2).</p> Imaging Journal of Clinical and Medical Sciences - Peertechz Publications 2016-07-13 Clinical Image https://doi.org/10.17352/2455-8702.000026 en Copyright © Shinji Makino et al.