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case study details

Retinal Dystrophy Case

Earlier in the course we studied a case concerning two young boys with juvenile onset congenital cataract tested for using a gene panel approach designed to detect variants in genes associated with this condition. This week we will consider Retinal Dystrophies (RD) a group of blinding diseases, clinically characterised by visual impairment varying from poor peripheral or night vision through to complete blindness1.

About Retinal Dystrophy

Importantly this group are found, like congenital cataract, to be also genetically very heterogeneous - that is variants can be found in over 200 different genes associated with developmental and functional roles, making the analysis of this condition challenging 1.

In terms of inheritance RD can be:

Therefore, identifying the genetic cause of the patient’s disease is important to inform genetic counselling and also for consideration of any future gene-based therapies 2.

About the case

We will look at a paper that is a comprehensive study of a number of cases with patients suffering from RD. It is by Wiesschuh et al., 2016 Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Please open this article in another browser window (so right click over the link and select “open in new window”) Right click This is so you can have the paper open at the same time as the course. We will be taking you through the paper, focusing on key points and highlighting a particular case. However, if you would like to read the entire paper first please feel free to do so and then complete the activities.


  1. Nash et al 2015. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy Transl Pediatr 4(2):139-163.

  2. Glöckle et al 2014. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies European Journal of Human Genetics 22: 99–104; doi:10.1038/ejhg.2013.72

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This article is from the free online course:

Clinical Bioinformatics: Unlocking Genomics in Healthcare

The University of Manchester