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09 October 2025 : Case report  USA

Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report

Rare disease, Congenital defects / diseases

Grace Z. Armstrong ABEF 1*, Kathleen K. Ho ABEF 1, Tyler J. Knight AEF 1, Erin E. Conboy ACDEF 2

DOI: 10.12659/AJCR.949311

Am J Case Rep 2025; 26:e949311

Authors information Article notes Copyright and License information

Figure 1 Proband external imaging of right eye (A) and left eye with iris coloboma (B). Retinal imaging of left eye with retinal and optic nerve coloboma (C) and right eye with retinal coloboma (D).

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923