Sorsby iii syndrome (sorsby fundus dystrophy)

General: Both sexes affected; 141h78b onset in fifth decade of life; autosomal dominant; mutations in the tissue inhibitor of metalloproteinases-3 have been associated with this condition; condition has been genetically linked to chromosome 22q 13-qter.

Ocular: Retinal hemorrhages; retinal exudates; retinal pigmentary deposits; choroid atrophy; choroidal neovascularization; abnormal color vision; generalized fine granularity of the retinal pigment epithelium and peripheral iris transillumination.

Clinical: None.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Sorsby A, et al. A fundus dystrophy with unusual features (late onset and dominant inheritance of central retinal lesion showing edema, hemorrhage and exudates developing into generalized choroidal atrophy with massive pigment proliferation). Br J Ophthalmol 1949; 33:67-l00.

Weber BH, et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994; 8:352-356.

Wu G, et al. Hereditary hemorrhagic macular dystrophy. Am J Ophthalmol 1991; 111:294-301.