Ophthalmic genetics · 2025
ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Cool Daniel, Dai Shuan, Lee Allister
Аннотация
BACKGROUND: Poland Syndrome is primarily characterized by musculoskeletal anomalies, such as unilateral absence of the sternocostal head of the pectoralis major. Ocular associations with Poland syndrome are rare, and ADAMTSL4 mutations, typically linked to autosomal recessive ectopia lentis, have not been previously associated with this condition.
CASE: We describe a 20-month-old female with left-sided Poland syndrome who presented with intermittent right eye pain and a history of progressive corneal clouding. Examination revealed bilateral ectopia lentis, buphthalmos, and elevated intraocular pressure. Genetic testing identified a homozygous ADAMTSL4 variant (c.767_786del20), a novel association with Poland syndrome. The patient underwent successful bilateral lensectomy and anterior vitrectomy, and management of glaucoma was initiated. Her monochorionic diamniotic (MCDA) twin, also harboring the same ADAMTSL4 mutation, exhibited bilateral ectopia lentis and underwent surgical intervention.
DISCUSSION: This report is the first to document an association between Poland syndrome and an ADAMTSL4 mutation, potentially suggesting a shared underlying defect in microfibril assembly. These findings expand our understanding of the genetic and developmental complexities of Poland syndrome and underscore the importance of early ophthalmological evaluation in such patients.
CONCLUSION: This case highlights the significance of genetic and ocular investigations in Poland syndrome, contributing to knowledge on its broader phenotypic spectrum and potential genetic etiologies. Further research is warranted to elucidate the role of ADAMTSL4 in microfibril-related anomalies.
CASE: We describe a 20-month-old female with left-sided Poland syndrome who presented with intermittent right eye pain and a history of progressive corneal clouding. Examination revealed bilateral ectopia lentis, buphthalmos, and elevated intraocular pressure. Genetic testing identified a homozygous ADAMTSL4 variant (c.767_786del20), a novel association with Poland syndrome. The patient underwent successful bilateral lensectomy and anterior vitrectomy, and management of glaucoma was initiated. Her monochorionic diamniotic (MCDA) twin, also harboring the same ADAMTSL4 mutation, exhibited bilateral ectopia lentis and underwent surgical intervention.
DISCUSSION: This report is the first to document an association between Poland syndrome and an ADAMTSL4 mutation, potentially suggesting a shared underlying defect in microfibril assembly. These findings expand our understanding of the genetic and developmental complexities of Poland syndrome and underscore the importance of early ophthalmological evaluation in such patients.
CONCLUSION: This case highlights the significance of genetic and ocular investigations in Poland syndrome, contributing to knowledge on its broader phenotypic spectrum and potential genetic etiologies. Further research is warranted to elucidate the role of ADAMTSL4 in microfibril-related anomalies.