Usher syndrome in a patient with Ellis-van Creveld syndrome.

CONCLUSION: Our report emphasizes the advantage of new genetic tests to investigate atypical presentations of known retinal disorders found in syndromic settings. In addition, we speculate that the underlying ciliopathy might possibly aggravate the phenotype of this case of Usher syndrome. PMID: 30991842 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30991842?dopt=Abstract

Source: European Journal of Ophthalmology - April 15, 2019 Category: Opthalmology Authors: Romano F, Albertini GC, Arrigo A, Leone PP, Bandello F, Battaglia Parodi M Tags: Eur J Ophthalmol Source Type: research