Disorders

Patterned Dystrophy of Retinal Pigment Epithelium

Synonym(s): Butterfly-Shaped Pigmentary Macular Dystrophy

Gene	Locus	Protein
PRPH2	6p21.2-cen	Peripherin-2

Laboratory	Test Method	Prenatal	Carrier *
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of California-San Diego, Ophthalmic Molecular Diagnostic Laboratory - La Jolla, CA, USA
University of Iowa, John and Marcia Carver Nonprofit Genetic Testing Laboratory - Iowa City, IA, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.