Ophthalmology. Retina۲٬۰۲۶نمایه شده در PubMed
Prethy Rao, Emmanuel Chang, Emily Spoth, Natasha Ferreira Santos da Cruz, Audina Berrocal, Polly Quiram, Sandra R Montezuma, Ameay Naravane, Yicheng Bao, Aaron Nagiel, Meera Sivalingam, Yoshihiro Yonekawa, J Peter Campbell, Adam Hanif, Drew Scoles, Safa Rahmani, Vaidehi S Dedania, Robert Sisk, Matthew Trese, Demetrios Vavvas, Adam C Janot, M Elizabeth Hartnett
چکیده
Knobloch syndrome is a rare autosomal recessive condition characterized by lack of functional collagen type XVIII (COL18A1), occipital defects, high myopia, and vitreoretinal degeneration. Clinical features, retinal detachment (RD) rates, and role of prophylactic treatment are not well established.…
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DOI: 10.1016/j.oret.2026.09.002