Literature DB >> 20098905

Ocular findings in Brazilian identical twins with Cohen syndrome: case report.

Priscila Hae Hyun Rim1, Eugênio Santana de Figueirêdo, Fabio Endo Hirata, Carlos Eduardo Steiner, Antonia Paula Marques-de-Faria.   

Abstract

A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal iris atrophy and retinochoroidal dystrophy. Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment.

Entities:  

Mesh:

Year:  2009        PMID: 20098905     DOI: 10.1590/s0004-27492009000600014

Source DB:  PubMed          Journal:  Arq Bras Oftalmol        ISSN: 0004-2749            Impact factor:   0.872


  1 in total

1.  A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

Authors:  Alireza Razavi; Hamed Jafarpour; Mohammad Reza Khosravi; Ghazal Abbasi; Abbas Dabbaghzadeh
Journal:  Clin Case Rep       Date:  2021-07-23
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.