Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes or . Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene . This report describes the case of a boy with -related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.
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| http://dx.doi.org/10.4103/tjo.TJO-D-23-00034 | DOI Listing |
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