A review of the genetics and clinical manifestations of Donnai-Barrow syndrome

Donnai‑Barrow syndrome (DBS) is an ultra-rare autosomal recessive disorder with fewer than 100 reported cases. Affected individuals have biallelic LRP2 (megalin) loss‑of‑function variants and varying clinical features that can include craniofacial anomalies, sensorineural hearing loss, renal tubular dysfunction, and distinctive ocular features. This article reviews the genetic and developmental basis of the syndrome and outlines its key ophthalmic manifestations of high myopia, retinal detachment, oculofacial findings of hypertelorism and iris coloboma, and optic nerve head anomalies. Additionally, this article describes diagnostic strategies including prenatal imaging and molecular testing and summarizes currently available management approaches drawn largely from case reports given the condition's rarity. By consolidating the limited literature and illustrative clinical examples, this review offers practicing ophthalmologists a concise reference for early recognition and multidisciplinary care of these patients.