CLRN1 mutations cause nonsyndromic retinitis pigmentosa

Muhammad Imran Khan, Ferry Kersten, Maleeha Azam, Rob Collin, Alamdar Hussain, Syed Tahir-A Shah, Jan Keunen, Hannie Kremer, Frans Cremers, Raheel Qamar, Anneke den Hollander | Ophthalmology​ | 2011 Jul 1 | Vol.18, Issue 7 |1444-8 | doi: 10.1016/j.ophtha.2010.10.047  

Objective: To describe the mutations in the CLRN1 gene in patients from 2 consanguineous Pakistani families diagnosed with autosomal recessive retinitis pigmentosa (arRP). Participants: Affected and unaffected individuals of 2 consanguineous Pakistani families and 90 unaffected controls from the same population. Informed consent was obtained from participants and the protocol was approved by a local institutional review board.