Ophthalmology. Retina۲۰۲۶نمایه 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 (KS) is a rare autosomal recessive condition characterized by lack of functional collagen type XVIII (COL18A1), occipital defects, high myopia, and vitreoretinal degeneration. The purpose is to (1) report clinical/systemic features, (2) retinal detachment (RD) rates, and (3) the…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1016/j.oret.2026.09.002