Stickler's syndrome.
1989; BMJ; Volume: 26; Issue: 2 Linguagem: Inglês
10.1136/jmg.26.2.119
ISSN1468-6244
Autores Tópico(s)Connective tissue disorders research
ResumoIn 1965, Stickler et a1l documented the association of severe myopia and degenerative joint changes in a five generation family.They termed this auto- somal dominant condition hereditary progressive arthro-ophthalmopathy, but it is now more commonly called Stickler's syndrome.Two years later Stickler and Pugh2 noted deafness in the original proband and his mother and also remarked on a characteristic flat facial appearance.In 1972, Opitz et a13 pointed out the association with the Pierre-Robin sequence and Herrmann et aP4 made an important contribution when they described 64 cases of Stickler's syndrome, stressing the variable manifestations of the condition.Controversy remains as to whether the syndrome described by Stickler is a distinct entity or should be incorporated into part of a larger connective tissue disorder which includes Marshall's,5 Wagner's,6 and Weissenbacher-Zweymuller syndromes.7 8 Clinical featuresThe variable manifestations of Stickler's syndrome can lead to diagnostic difficulties.The clinical find- ings can be divided into three groups-signs relating to the eyes, joints, and facial appearance.,.In any subject, signs from one group can predominate and lead to presentation to a number of specialities.In families, the pattern of findings cannot be accurately predicted nor the severity assumed from previously affected relatives. OCULAR MANIFESTATIONSMyopia is generally severe (>-8 diopters), probably congenital, and progression is minimal.9Myopic degeneration of the retina can occur with lattice degeneration and myopic crescents visible on fundoscopy.Chorioretinal degeneration is characterised by areas of abnormal retinal pigmentation, choroidal
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