Produção Nacional
Revisado por pares
Avaliação genética e oftalmológica de pacientes com síndrome de Stickler tipo II
2006; Conselho Brasileiro de Oftalmologia; Volume: 69; Issue: 6 Linguagem: Inglês
10.1590/s0004-27492006000600018
ISSN1678-2925
AutoresVanderson Glerian Dias, Michel Castilho Salem, Caio César Benetti Filho,
Tópico(s)Moyamoya disease diagnosis and treatment
ResumoTo diagnose, evaluate and describe the clinical, genetic and ophthalmic characteristics of a family with type II Stickler syndrome.X-rays for bone age, clinical and genetic evaluation were performed in all patients with ocular alterations. The Stickler syndrome diagnosis was established after correlating these examinations.Type II Stickler syndrome was found in 11 patients. The most important ocular findings were: high myopia (80%), lens subluxation (70%), exotropia (50%) and vitreoretinal abnormalities (80%) including vitreous cavity (50%). The clinical genetic examination disclosed that 30% of the patients had micrognathia, 50% hearing loss, 40% nasal depression and 60% high palate. Seven cases had articular hypermotility and long fingers and arthropathy was present in 3 cases.Diagnosis of the Stickler syndrome is difficult due to its phenotypic variability and the existence of other genetic syndromes with similar characteristics. Hand and wrist radiographs are of particular importance in the diagnosis of this syndrome.
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