Exploring Knobloch syndrome: A case series of two Indian families and a review of literature

This case series describes the clinical features and genetic testing results of four patients from two families affected by Knobloch syndrome (KS). KS is an autosomal recessive collagenopathy characterized by vitreoretinal degeneration, high myopia, retinal detachment, and occipital encephalocele. I...

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Dades bibliogràfiques

Autors principals:	Darshan Bhatt, Muna Bhende, Areeba Shakeel, Pramod Bhende, Girish Shiva Rao, Kavitha Kalaivani, S Sripriya
Format:	Artigo
Idioma:	Inglês
Publicat:	Wolters Kluwer Medknow Publications 2024-04-01
Col·lecció:	Indian Journal of Ophthalmology. Case Reports
Matèries:	encephalocele high myopia knobloch syndrome retinal detachment
Accés en línia:	https://journals.lww.com/10.4103/IJO.IJO_2867_23
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