Disorders


 

Patterned Dystrophy of Retinal Pigment Epithelium


Synonym(s): Butterfly-Shaped Pigmentary Macular Dystrophy

 

OMIM

GeneLocusProtein
PRPH26p21.2-cenPeripherin-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.

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