Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome

被引:0
作者
Aziz Belkadi
Gaurav Thareja
Adnan Khan
Nisha Stephan
Shaza Zaghlool
Anna Halama
Ayeda Abdulsalam Ahmed
Yasmin A. Mohamoud
Joel Malek
Karsten Suhre
Rayaz A. Malik
机构
[1] Weill Cornell Medicine-Qatar,Faculty of Health Sciences
[2] Qatar Foundation,undefined
[3] Education City,undefined
[4] Khyber Medical University,undefined
来源
BMC Medical Genomics | / 16卷
关键词
Bardet-Biedl Syndrome; Corneal confocal Microscopy; Nerves; Optical coherence tomography; Retina;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 161 条
  • [1] Caba L(2022)Monitoring and management of Bardet-Biedl Syndrome: what the multi-disciplinary team can do J Multidiscip Healthc 15 2153-67
  • [2] Florea L(2018)The endocrine and metabolic characteristics of a large Bardet-Biedl Syndrome clinic population J Clin Endocrinol Metab 103 1834-41
  • [3] Braha EE(2013)Bardet-Biedl syndrome Eur J Hum Genet EJHG 21 8-13
  • [4] Lupu VV(1982)Ocular and systemic manifestations of the Bardet-Biedl syndrome Am J Ophthalmol 94 750-6
  • [5] Gorduza EV(2012)Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene Vis Res 75 77-87
  • [6] Mujahid S(2017)BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment PLoS Genet 13 e1007057-9
  • [7] Hunt KF(2007)Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function Proc Natl Acad Sci U S A 104 17524-74
  • [8] Cheah YS(2018)Ophthalmic and clinical factors that predict four-year development and worsening of diabetic retinopathy in type 1 diabetes J Diabetes Complications 32 67-61
  • [9] Forsythe E(2018)Corneal confocal microscopy for identification of diabetic sensorimotor polyneuropathy: a pooled multinational consortium study Diabetologia 61 1856-5
  • [10] Hazlehurst JM(2022)Development and characterization of microsatellite primers for Triops granarius (Branchiopoda: Notostraca) using MiSeq technology Mol Biol Rep 49 10121-95