Literature DB >> 15724900

Pediatric ophthalmologic findings of Cohen syndrome in twins.

Malgorzata Mrugacz1, Dorota Sredzinska-Kita, Alina Bakunowicz-Lazarczyk.   

Abstract

We present the clinical findings and follow-up data of male twins with Cohen syndrome. The most characteristic ophthalmologic findings were down-slanting eyelids, lens opacities, chorioretinal dystrophy, pigmentary retinal deposits, pale disk, and bull's eye maculae.

Entities:  

Mesh：

Year:  2005        PMID： 15724900     DOI： 10.3928/01913913-20050101-08

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


  3 in total

Review 1.  Ocular involvement in primary immunodeficiency diseases.

Authors:  Sima Hosseinverdi; Hassan Hashemi; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2013-11-30       Impact factor: 8.542

Review 2.  Cohen Syndrome: Review of the Literature.

Authors:  Jonathan M Rodrigues; Hermina D Fernandes; Carrie Caruthers; Stephen R Braddock; Alan P Knutsen
Journal:  Cureus       Date:  2018-09-18

3.  Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.

Authors:  Vincent Lhussiez; Elisabeth Dubus; Quénol Cesar; Niyazi Acar; Emeline F Nandrot; Manuel Simonutti; Isabelle Audo; Eléonore Lizé; Sylvie Nguyen; Audrey Geissler; André Bouchot; Muhammad Ansar; Serge Picaud; Christel Thauvin-Robinet; Laurence Olivier-Faivre; Laurence Duplomb; Romain Da Costa
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-09-01       Impact factor: 4.799
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.