High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation

Ophthalmic Genet. 2022 Oct;43(5):653-657. doi: 10.1080/13816810.2022.2068045. Epub 2022 May 10.

Authors

Nawid Faizi¹, Ingele Casteels¹, Bruno Termote², Paul Coucke^{3

4}, Elfride De Baere^{3

4}, Marieke De Bruyne^{3

4}, Irina Balikova¹

Affiliations

¹ Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.
² Department of Radiology, Jessa Hospital Hasselt, Hasselt, Belgium.
³ Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
⁴ Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

PMID: 35535551
DOI: 10.1080/13816810.2022.2068045

No abstract available

Keywords: High myopia; Poretti–Boltshauser syndrome; autosomal recessive disorder; cerebellar cysts; retinal dystrophy.

MeSH terms

Apraxias / congenital
Cerebellar Ataxia*
Cogan Syndrome*
Humans
Mutation
Myopia* / genetics
Pedigree

Supplementary concepts

Apraxia, oculomotor, Cogan type