Your browser doesn't support javascript.
loading
Ocular findings in Brazilian identical twins with Cohen syndrome: case report / Achados oftalmológicos em gêmeos idênticos brasileiros com síndrome de Cohen: relato de caso
Rim, Priscila Hae Hyun; Figueirêdo, Eugênio Santana de; Hirata, Fabio Endo; Steiner, Carlos Eduardo; Marques-de-Faria, Antonia Paula.
  • Rim, Priscila Hae Hyun; Universidade Estadual de Campinas. Departament of Ophthalmo/Otorhinolaringology. Campinas. BR
  • Figueirêdo, Eugênio Santana de; Universidade Estadual de Campinas. Departament of Ophthalmo/Otorhinolaringology. Campinas. BR
  • Hirata, Fabio Endo; Universidade Estadual de Campinas. Departament of Ophthalmo/Otorhinolaringology. Campinas. BR
  • Steiner, Carlos Eduardo; Universidade Estadual de Campinas. Departament of Medical Genetics. Campinas. BR
  • Marques-de-Faria, Antonia Paula; Universidade Estadual de Campinas. Departament of Medical Genetics. Campinas. BR
Arq. bras. oftalmol ; 72(6): 815-818, Nov.-Dec. 2009. ilus
Article in English | LILACS | ID: lil-536777
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.
RESUMO
Relata-se caso de gêmeos idênticos com síndrome de Cohen que apresentam múltiplos achados oftalmológicos. Os pacientes eram gêmeos idênticos, do sexo masculino, que apresentavam pálpebras em forma de onda, ptose moderada, alta miopia, opacidades cristalinianas corticais discretas, catarata subcapsular posterior, pupilas mióticas e corectópicas com pobre dilatação devido à atrofia focal de íris, além de distrofia retinocoroidiana. Os oftalmologistas devem estar atentos quanto aos achados oftalmológicos e sistêmicos da síndrome de Cohen na avaliação de pacientes jovens com retardo mental e baixa visão.
Subject(s)

Full text: Available Index: LILACS (Americas) Main subject: Twins, Monozygotic / Abnormalities, Multiple / Diseases in Twins / Eye Diseases / Intellectual Disability Type of study: Diagnostic study Limits: Adolescent / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Arq. bras. oftalmol Journal subject: Ophthalmology Year: 2009 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual de Campinas/BR

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: LILACS (Americas) Main subject: Twins, Monozygotic / Abnormalities, Multiple / Diseases in Twins / Eye Diseases / Intellectual Disability Type of study: Diagnostic study Limits: Adolescent / Humans / Male Country/Region as subject: South America / Brazil Language: English Journal: Arq. bras. oftalmol Journal subject: Ophthalmology Year: 2009 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual de Campinas/BR