Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy

ABSTRACTIntroduction Koleen-De Vries syndrome (KDVS) is a rare genetic condition characterized by typical facial features, intellectual disability, cardiac and renal diseases, and ophthalmic manifestations. The syndrome is known to be caused by a microdeletion in the 17q21.31 region, involving multiple genes, including the KANSL1 gene.Case Presentation We present the case of a 9-year-old boy with no family history of ophthalmic syndromes. The patient exhibited bilateral hypopigmented iris and unilateral choroidal and retinal pigment epithelium (RPE) hypopigmentation.Discussion The presence of ophthalmic manifestations, such as bilateral hypopigmented iris and unilateral choroidal and RPE hypopigmentation, in a patient with KDVS adds to the clinical spectrum of this syndrome. Although the exact mechanism underlying these ocular findings is not yet fully understood, the microdeletion in the 17q21.31 region, which includes the KANSL1 gene, is likely to play a role.Conclusion This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.KEYWORDS: Ophthalmic geneticsKANSL1 geneKoolen-De Vries Disclosure statementThe authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.Statement of ethicsThis report was published with the permission and informed consent of the patient guardian.Additional informationFundingThe author(s) reported there is no funding associated with the work featured in this article.