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DYSTROPHIE SORSBY [1 record]

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Record 1 2025-09-11

English

Subject field(s)
  • Visual Disorders
CONT

Sorsby's macular dystrophy. ... This is an extremely rare, dominantly inherited disorder, with many clinical similarities to age-related macular degeneration. A gene for Sorsby's dystrophy that codes for a tissue inhibitor metalloproteinase, TIMP-3, has been identified. ... Several mutations of TIMP-3 have been identified in patients with Sorsby's dystrophy. ... Early in the disease process, several very fine drusen or a large confluent plaque or yellowish material may be noted beneath the central RPE [retinal pigment epithelium]. Then, typically around 40 years of age, patients develop bilateral exudative maculopathy, which leaves heavily pigmented macular scars and areas of geographical atrophy.

Key term(s)
  • Sorsby macular dystrophy
  • Sorsby fundus dystrophy
  • Sorsby dystrophy

French

Domaine(s)
  • Troubles de la vision
CONT

La dystrophie de Sorsby est une dystrophie maculaire de transmission autosomique dominante liée à une mutation sur le gène TIMP3. Le phénotype est caractérisé par l'apparition de drusen et de néovaisseaux et une atrophie rétinienne survenant entre la 3e et 6e décennie. La pathologie est progressive et cécitante.

Spanish

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