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Funduscopy images of case 3. Preoperative (a) and postoperative (b) funduscopy images of the patient's right eye. Retinal detachment developed from the upper temporal quadrants. Following scleral buckling surgery, the retina was reattached; however, localized downward redetachment occurred and epiretinal membrane formation in the macula also developed at a late stage. Thus, vitreous surgery was then performed. Following surgery, the retina was reattached and corrected visual acuity improved to 0.7.
Source publication
Purpose
Stickler syndrome is an autosomal dominant inherited disorder that is well known to be highly associated with the development of rhegmatogenous retinal detachment. In this study, we report the case of a family affected by Stickler syndrome in which rhegmatogenous retinal detachment developed in 5 eyes of 3 siblings.
Case Series
For treatme...
Contexts in source publication
Context 1
... were not observed. At the age of 11, rhegma- togenous retinal detachment developed in his right eye. Bullous retinal detachment was observed from the upper temporal side to the lower side, and multiple slit-shaped retinal breaks were observed at the middle of the upper temporal area. An oval-shaped retinal hole had also formed in the lower part (Fig. 3a). Liquefaction and membranous vitreous degener- ation were also observed. The patient's VA was 0.04 (0.15 × syph -5.25 = cyl -1.75 axis 180°) OD and 0.04 (0.7 × syph -8.00 = cyl -2.25 axis 180°) OS. After performing scleral buckling surgery, including transscleral cryopexy and subretinal fluid drainage, encircling with a #506 silicone ...
Context 2
... localized redetachment occurred and epiretinal membrane formation in the macular also developed and the corrected VA decreased to 0.4 (Fig. 3b). Thus, reoperation via vitreous surgery was performed. With the crystalline lens preserved, the vitreous gel was excised as near as possible to the periphery, and after peeling off the epiretinal membrane, pneumatic retinal replacement, endophotocoagulation, and gas tamponade with 20% SF6 were performed. Following surgery, the retina ...
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Background
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Case presentations
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Citations
... Different from other cases of RRD in Stickler syndrome (14,22), our patient presented with macular coloboma in right eye. Congenital macular coloboma is a relatively rare condition involving 0.5-0.7/10,000 ...
Background
Stickler syndrome is a hereditary connective tissue disorder associated with ocular, orofacial, musculoskeletal, and auditory impairments. Its main clinical characteristics include retinal detachment, hearing loss, and midface underdevelopment. In clinical practice, macrocyst is rarely reported in retinal detachment cases with Stickler syndrome.
Case presentation
We report the case of a 7-year-old child who developed a rhegmatogenous retinal detachment (RRD) in the right eye, accompanied by multiple peripheral macrocysts. The detachment was successfully surgically repaired with vitrectomy, retinal laser photocoagulation, cryotherapy and silicone oil tamponade. During the operation, a mini-retinectomy in the outer layer of each macrocyst was made for vesicular drainage and retinal reattachment. Genetic testing identified a pathogenic point mutation variant (c.1693C>T; p.Arg565Cys) in exon 26 of the COL2A1 gene. Six-months after the operation, the retina remained attached with improvement of best corrected visual acuity to 20/200.
Conclusion
Patients with Stickler syndrome may develop RRD of different severity. Macrocyst is rarely reported in previous literature of Stickler syndrome. In this case report, we share our experience in treating with multiple macrocysts in RRD and emphasize the importance of periodic follow-up for patients with Stickler syndrome.
... Premature osteoarthritis, ocular involvement, sensorineural hearing loss, distinctive facies with maxillary hypoplasia, midface hypoplasia, long philtrum, and micrognathia and cleft palate are all symptoms of the Stickler syndrome (Pierre-Robin sequence). [21,22] Midline clefting is seen in a quarter of patients (25% of instances). The Pierre-Robin sequence, clefting of the hard/soft palate, and the mildest form of the bifid uvula [23] are all examples of this. ...
... Features of the Stickler syndrome include premature osteoarthritis; ocular involvement; sensorineural hearing loss; a characteristic facies with maxillary hypoplasia, midface hypoplasia, long philtrum, and micrognathia; and cleft palate (Pierre-Robin sequence). [4,5] However, most of these features become less distinct as the child reaches adulthood. The facial features are so variable that in isolation they are unreliable for making a diagnosis. ...
Stickler syndrome or hereditary progressive arthro-ophthalmopathy is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features, and deafness, in variable degrees. This is a case report of a 48-day-old infant who presented with severe feeding difficulty. It also details the clinical, diagnostic features, and management of an infant with Stickler syndrome.
Purpose: To describe the clinical course of 3 patients with Stickler syndrome found on fluorescein angiography (FA) to have nonperfusion of the peripheral retina. Methods: Three patients with confirmed Stickler syndrome were examined under anesthesia. Genetic testing and FA were performed. Results: Each patient had characteristic ocular findings of Stickler syndrome, including high myopia with vitreoretinal degeneration. FA was performed on each patient and showed 360 degrees of nonperfusion of the retinal periphery in all eyes, with mild leakage in Case 3. Conclusions: The current series presents evidence of peripheral retinal nonperfusion in 3 consecutive patients with Stickler syndrome. Based on these findings, the authors recommend adopting FA as a standard imaging modality and using laser photocoagulation to treat the areas of retinal nonperfusion for all patients with Stickler syndrome.
