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KMID : 0390320220320010011
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Chungbuk Medical Journal
2022 Volume.32 No. 1 p.11 ~ p.19
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Ocular Manifestations in Edward?s Syndrome - A Case Report -
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Um Tae-Woong
Jeon Min-Ji
Seo Bo-Yoon
Kim Yoo-Jinie
Park Hye-Won
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Abstract
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Trisomy 18, also known as Edward's syndrome, is the second most common autosomal disorder after trisomy 21. This disorder affects various organs and has multiple distinctive morphological features including small face, low-set malformed ears, clenched hands, and rocker-bottom feet. However, ocular manifestations, such as corneal opacity, cataract, glaucoma, microphthalmia, retinal folds, optic disc hypoplasia, and retinal hypopigmentation, are reported in a few cases. Here, we present a case of a full-term male infant diagnosed with Edward's syndrome using prenatal chromosomal analysis. In addition to the other typical features of Edward's syndrome, the patient also showed rare ophthalmological features. Including bilateral persistent pupillary membranes, retinal thinning, and optic disc hypoplasia. This is the first case of persistent pupillary membranes in a infant with Edward’s syndrome reported in Korea.
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KEYWORD
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Trisomy 18 syndrome, Persistent pupillary membrane, Hereditary eye diseases
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