[Stickler's syndrome (dystrophia vitreoretinalis hereditaria). Results of surgery for retinal detachment].

OBJECTIVE

Stickler's syndrome (SS) is an autosomal dominant hereditary disease of the collagenous connective tissue where impaired development of the vitreous body gel and peripheral retina and detachment of the retina are associated with general manifestations. The objective of the retrospective study was to evaluate the long-term results of surgery of retinal detachment in SS.

PATIENTS: The group of patients comprised 7 patients, 6 men and 1 woman aged 4 to 45 years, average age 16.8 years. Autosomal dominant heredity was obvious in 6 members (85.7%) of two families. General manifestations of SS included abnormalities of the facial skeleton (6 patients), cleft palate (4 patients), impaired hearing (2 patients), marfanoid habitus (2 patients) and hyperextensibility of the joints (4 patients). In the eyes with SS was manifested by myopia from -1 to -9 D and a liquid vitreous body. Multiple foci of lattice degeneration supplemented the finding in 6 patients (85.7%). Detachment of the retina was a manifestation of SS in 12 of 14 eyes (85.7%). It was manifested in 5 of 7 patients concurrently or within 12 years in both eyes. The causes of retinal detachment were multiple equatorial and postequatorial tears due to lattice degeneration in 8 eyes (66.7%) or a giant tear in 4 eyes (33.3%). Advanced proliferative vitreoretinopathy (PVR) was associated with retinal detachment in 8 eyes (66.7%) and in 6 eyes (50%) it was not possible to assess the beginning of retinal detachment.

RESULTS

In 3 of 5 patients with bilateral retinal detachment the adverse course of retinal detachment on the first eye was followed 8 to 12 years previously in another department: two retinal detachments with giant tears were evaluated as inoperable and one inveterated detachment with advanced PVR was operated unsuccessfully. Retinal detachment was operated in 9 eyes of 7 patients, in two patients both eyes were operated simultaneously. The patients were followed up after surgery for 11 months to 15 years, on average for 65 months. A cryosurgical approach was used in 6 retinal detachments (66.7%), accentuated cerclage with drainage of subretinal fluid in 5 and radial plombage in one eye. The retina attached in 5 of 6 eyes (83.3%) and the final visual acuity was 0.25-0.1, mean 0.66. Pars plana vitrectomy (PPV) and implantation of silicone oil (ISO) were the final surgical solution in 3 eyes of 3 patients (33.3%). In one eye with retinal detachment with a circumferential width of 320 degrees and advanced PVR PPV and ISO were the primary operation, in two eyes re-operation on account of a relapse of retinal detachment with advanced PVR after an unsuccessful cryosurgical operation. Anatomical and functional success was achieved in 2 of 3 eyes (66.7%), in one eye after removal of silicone oil from the eye. The final visual acuity of successfully operated eyes was 0.2 and 0.16.

CONCLUSIONS

Retinal detachment in SS usually affects both eyes, the second eye may be affected after many years. The cause of retinal detachment are multiple tears or a giant tear. Early surgery of retinal detachment has as a rule a favourable effect, while late diagnosis of retinal detachment in children leads frequently to blindness. Dispensarization and regular ophthalmological check-ups of patients with SS are an essential prerequisite of successful prevention and treatment of retinal detachment.