Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
Sruthi ArepalliMeghan J M DeBenedictisAlex YuanElias I TraboulsiPublished in: Ophthalmic genetics (2022)
The clinical diagnosis of Knobloch syndrome can be difficult to reach in the absence of the typical occipital scalp defects. A careful medical history, detailed clinical examination and molecular genetic testing will reveal the correct diagnosis of Knobloch syndrome in atypical cases.