Disorders

Pseudoinflammatory Fundus Dystrophy

Synonym(s): Sorsby Fundus Dystrophy, Sorsby Syndrome

Gene	Locus	Protein
TIMP3	22q12.3	Metalloproteinase inhibitor 3

Laboratory	Test Method	Prenatal	Carrier *
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of select exons
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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	• Sequence analysis of select exons

^* 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.