Stickler’s Syndrome (Dystrophia Vitreoretinalis Hereditaria) Results of Surgeryof Retinal Detachment

Overview

Objective:
Stickler’s syndrome (SS) is an autosomal dominant hereditary diseaseof the collagenous connective tissue where impaired development of the vitreous body gel and peripheral retina and detachment of the retina are associated withgeneral manifestations. The objective of the retrospective study was to evaluatethe long-term results of surgery of retinal detachment in SS.Patients:The group of patients comprised 7 patients, 6 men and 1 woman aged 4to 45 years, average age 16.8 years. Autosomal dominant heredity was obvious in6 members (85.7%) of two families.General manifestations of SS included abnormalities of the facial skeleton (6 patients), cleft palate (4 patients), impairedhearing (2 patients), marfanoid habitus (2 patients) and hyperextensibility of thejoints (4 patients).In the eyes with SS was manifested by myopia from -1 to-9 D and a liquid vitreousbody. 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 postequatorialtears 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 thebeginning of retinal detachment.Results: In 3 of 5 patients with bilateral retinal detachment the adverse course ofretinal detachmenton the first eye wasfollowed 8 to 12 years previously in anotherdepartment: 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 eyeswere operated simultaneously. The patients were followed up after surgery for 11months to 15 years, on average for 65 months.A cryosurgical approach was usedin 6 retinal detachments (66.7%), accentuated cerclage with drainage of subretinalfluid 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.l, mean 0.66. Pars plana vitrectomy (PPV)and implantation of silicone oil (ISO) were the final surgical solution in 3 eyes of3 patients (33.3%). In oneeye with retinal detachment with a circumferential widthof 320° and advanced PVR PPV and ISO were the primary operation, in two eyesre-operation on account of a relapse of retinal detachment with advanced PVRafter an unsuccessful cryosurgical operation. Anatomical and functional successwas achieved in 2 of 3 eyes (66.7%), in one eye after removal of silicone oil fromthe 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 eyemay be affected after many years. The cause of retinal detachment are multipletears or a giant tear. Early surgery of retinal detachment has as a rule a favourableeffect, while late diagnosis of retinal detachment in children leads frequently toblindness. Dispensarization and regular ophthalmological check-ups of patientswith SS are an essential prerequisite of successful prevention and treatment ofretinal detachment.

Key words:
Stickler’s syndrome, detachment of retina, results of surgery