Ocular manifestations in adolescent cystinosis: case report in Thailand.
Artigo
em Inglês
| IMSEAR
| ID: sea-42155
ABSTRACT
Three siblings with a family history of consanguinity presented with short stature and two of the patients had leg deformity. None of them experienced ocular or renal symptoms at presentation. After the pediatricians found characteristics of Fanconi syndrome, an ophthalmic consultation was requested Ocular examination revealed typical cystine crystals deposited in the cornea and conjunctivae. No crystal deposits were found elsewhere in the eyes. Fundoscopic examination was normal. Two patients who underwent a complete ocular examination were diagnosed as adolescent cystinosis. The youngest patient who lost to follow up before completed ocular examination was suspected for adolescent cystinosis. This is the first report of cystinosis with ocular manifestation from Thailand.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Fatores de Risco
/
Adolescente
/
Doenças da Córnea
/
Cistinose
/
Síndrome de Fanconi
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2005
Tipo de documento:
Artigo
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