Congenital corneal staphyloma in 8q21.11 microdeletion syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2127152
Abstract: ABSTRACT Background Although 8q21.11 microdeletion syndrome (8q21.11 DS) has been reported in association with congenital corneal opacities, reports of the clinicopathological features and management are scarce. Methods We reviewed medical records including ophthalmic evaluations, imaging,… read more here.
Keywords: microdeletion syndrome; corneal; 8q21 microdeletion; congenital corneal ... See more keywords
Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.
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DOI: 10.1097/ico.0000000000003281
Abstract: Purpose: The aim of this study was to report a case of Peters plus-like syndrome, which revealed to have an 8q21.11 microdeletion by copy number variation analysis using exome data. Methods: A 6-month-old Japanese boy… read more here.
Keywords: like syndrome; plus like; peters plus; 8q21 microdeletion ... See more keywords