[Genetic and ophthalmological assessment of patients with type II Stickler syndrome].
OBJECTIVE
To diagnose, evaluate and describe the clinical, genetic and ophthalmic characteristics of a family with type II Stickler syndrome.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Dias
Vanderson Glerian
VG
Departamento de Oftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil. glerian@globo.com
Salem
Michel Castilho
MC
Benetti Filho
Caio César
CC
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D050276:Hand Bones / Q000000981:diagnostic imaging; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014822:Vitreous Body / Q000502:physiology; D020255:Vitreous Detachment / Q000175:diagnosis* / Q000235:genetics; D014953:Wrist / Q000000981:diagnostic imaging