ライフサイエンスコーパス: Coats

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1 Coats define the composition of carriers budding from or

2 Coats plus (CP) can be caused by mutations in the CTC1 c

3 Coats plus is a highly pleiotropic disorder particularly

4 Coats' disease is characterized by abnormal retinal vasc

5 patients who underwent treatment for stage 2 Coats' disease in a tertiary center in the United Kingdo

6 e intraoperative FA in children with stage 2 Coats' disease led to good anatomic outcome, with preser

7 (n = 15, 22%), pars planitis (n = 14, 21%), Coats disease (n = 11, 16%), previous retinal detachment

8 n 1 year were most likely to have PFV (49%), Coats' disease (20%), or vitreous hemorrhage (7%); those

9 an important pathophysiological link between Coats plus and the clinically related telomere disorders

10 ve vitreoretinopathy (FEVR), Norrie disease, Coats' disease, bilateral persistent fetal vasculature,

11 older than 5 years were most likely to have Coats' disease (57%), toxocariasis (8%), or FEVR (6%).

12 2 to 5 years of age were most likely to have Coats' disease (61%), toxocariasis (8%), or PFV (7%); an

13 he most common pseudoretinoblastomas include Coats' disease, PFV, and vitreous hemorrhage, but the sp

14 conditions, and the 10 most common included Coats' disease (n = 244; 40%), persistent fetal vasculat

15 ponent, have been identified as the cause of Coats plus syndrome.

16 The classical form of Coats' disease is almost invariably isolated, unilateral

17 is CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comp

18 A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie di

19 r the formation of retinal telangiectasia or Coats-like vasculopathy in patients with CRB1 mutations

20 Here, we show that Coats plus results from mutations in CTC1, encoding cons

21 We suggest that Coats' telangiectasis is secondary to somatic mutation i

22 We herein describe two Coats plus patients with telomere and genomic defects; b

23 Twenty children with Coats' disease who underwent intraoperative RetCam FA an

24 hortened telomeres in three individuals with Coats plus and an increase in spontaneous gammaH2AX-posi

25 inas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in

26 Patients with Coats' disease diagnosed clinically, angiographically, o

27 ences in visual acuities among patients with Coats' disease who sought treatment at a tertiary care u

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