Sorsby's fundus dystrophy (SFD) is a very rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorde ...

characterized by the loss of

central vision Central is an adjective usually referring to being in the center of some place or (mathematical) object. Central may also refer to: Directions and generalised locations * Central Africa, a region in the centre of Africa continent, also known a ...

. It was first described by Sorsby and Mason in 1949.

Signs and symptoms

Patients typically become symptomatic in their 40s due to loss of central vision. However, tests of rod photoreceptor function (i.e., night vision tests) show dysfunction at an earlier age. One of the most sensitive visual function parameters for early SFD is a prolongation of rod-mediated dark adaptation. High-resolution structural imaging of the Bruch's membrane and of the underlying choriocapillaris – the capillary plexus nourishing the outer retina – also shows early alterations.

Genetics

The inheritance pattern is

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

. It is related to a mutation in the

TIMP3 Metalloproteinase inhibitor 3 is a protein that in humans is encoded by the ''TIMP3'' gene. This gene belongs to the tissue inhibitor of metalloproteinases gene family. The proteins encoded by this gene family are inhibitors of the matrix metall ...

gene.

Diagnosis

Treatment

References

External links

{{Medical resources , ICD10 = H35.5 , ICD9 = , ICDO = , OMIM = 136900 , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 59181
Sorsby's fundus dystrophy
at

OMIM Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM ...

Sorsby's fundus dystrophy
at Orpha.net Genetic diseases and disorders