Sorsby's pseudoinflammatory macular dystrophy.
AUTOR(ES)
Hoskin, A.
RESUMO
Forty-three additional members of a family described originally by Sorsby and Mason have been examined in order to typify pseudoinflammatory macular dystrophy more accurately. Six new affected members were identified by history alone and a further 7 were examined. Vision is lost from disciform macular degeneration generally during the 5th decade of life. Thereafter peripheral degeneration occurs in some affected members. Before loss of vision the fundus changes include fine drusen-like deposits at the level of Bruch's membrane, angioid streaks, and plaque-like deposits of yellow subretinal material in the macular region. These changes are different from those seen in dominant drusen.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1039695Documentos Relacionados
- Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.
- A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
- Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy.
- Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
- Dark adaptation in patients with Best vitelliform macular dystrophy.