A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
- Meunier, Isabelle
- Bocquet, Béatrice
- Labesse, Gilles
- Zeitz, Christina
- Defoort-Dhellemmes, Sabine
- Lacroux, Annie
- Mauget-Faysse, Martine
- Drumare, Isabelle
- Gamez, Anne-Sophie
- Mathieu, Cyril
- Marquette, Virginie
- Sagot, Lola
- Dhaenens, Claire-Marie
- Arndt, Carl
- Carroll, Patrick
- Rémy-Jardin, Martine
- Cohen, Salomon Yves
- Sahel, José-Alain
- Puech, Bernard
- Audo, Isabelle
- Mrejen, Sarah
- Hamel, Christian, P.
DOIAbstract
International audienceTo revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon 5, in family 1 and c.113C > G, p.S38C, exon 1, in family 2). In family 1, all SFD patients older than 50 (two generations) had also a severe emphysema, despite no history of smoking or asthma. In the preceding generation, the mother died of pulmonary emphysema and she was blind after the age of 50. Her two great-grandsons (<20 years), had abnormal Bruch Membrane thickness, a sign of eye disease. In family 2, eye and lung diseas...
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