The Stickler syndrome: case reports and literature review.

BACKGROUND: Stickler syndrome is a progressive autosomal-dominant connective tissue disorder with numerous ocular and systemic manifestations. Ocular abnormalities include: retinal detachment, glaucoma, premature cataracts, high myopia, optically empty vitreous cavities, and retinal pigmentary changes. Systemic signs include premature osteoarthritis and hearing loss, as well as numerous skeletal and facial malformations, such as maxillofacial hypoplasia and cleft palate. While many affected patients are diagnosed as children who exhibit obvious skeletal abnormalities, diagnosis can be delayed due to variable expressivity. In some cases, systemic problems may be mild or nonexistent. Thus, Stickler syndrome should be considered in the differential diagnosis of any patient who manifests a strong family history of premature cataracts, glaucoma, or retinal detachment. CASE REPORTS: Three patients representing three different generations within the same family manifested severe ocular manifestations of Stickler syndrome, and minimal systemic involvement: a 56-year-old woman, her 25-year-old son, and the first patient's 8-year-old grandson. CONCLUSIONS: Our cases highlight the need for appropriate vigilance in examining patients with a strong family history of common ocular disorders such as cataract, glaucoma, and retinal detachment. By recognizing the ocular and sometimes subtle systemic signs of Stickler syndrome, optometrists can play a vital role in limiting vision loss and improving the quality of life of affected patients and family members.     

人工晶状体取出适应证及技术的临床分析

目的：分析人工晶状体取出的适应证及手术方法。方法：对30例30只眼人工晶状体取出病例进行回顾性分析。其中20例为外伤性白内障；7例为老年性白内障，1例为高度近视，视网膜脱离术后并发白内障，1例Fuch‘s综合征并发白内障，1例为先天性白内障，结果：人工晶状体取出的原因为人工晶状体脱位，人工晶状体夹持，牵引性视网膜脱离，大泡性角膜病变，顽固性角素膜炎，继发青光眼等。主要采用虹膜粘连分开，瞳孔成形，人工晶状体重新固定或更换，人工晶状体取出联合玻璃体切除。玻璃体多膜联合手术，睫状体光凝术等，术后无严重并发症，结论：对人工晶状体植入术后的某些严重并发症，取出人工晶状体可在一定程度挽救视功能。     

Outcome of early surgery for bilateral congenital cataracts in eyes with microcornea

PURPOSE: To report the outcome of early surgery for bilateral congenital cataracts in eyes with microcornea. DESIGN: Interventional case series. METHODS: We retrospectively reviewed 22 eyes of 11 patients with microcorneas who underwent early surgery for bilateral congenital cataracts. All patients underwent lensectomy and anterior vitrectomy via the limbal approach by 12 weeks of age. The corneal diameters at the time of surgery ranged from 7.0 to 9.0 mm. The mean age at the time of surgery was 7.7 +/- 3.3 weeks (range, two to 12 weeks); the follow-up period was 115 +/- 58 months (range, 40 to 199 months). Aphakic eyes were corrected with spectacles or contact lenses. Visual acuities and the postoperative complications were evaluated periodically. RESULTS: The morphologic types of cataract were nuclear (12 eyes), complete (eight eyes), and membranous (two eyes). Other preoperative ocular abnormalities included iris hypoplasia in 10 eyes and persistent fetal vasculature in three eyes. Systemic abnormalities were found in four patients. Postoperative complications occurred in 11 eyes (50%), including glaucoma (nine eyes), exudative retinal detachment (two eyes), rhegmatogenous retinal detachment, and secondary membrane formation, in one eye each. The binocular visual acuity was 20/40 to 20/20 in six patients (55%), 20/200 to 20/100 in two patients (18%), and 2/100 or worse in three patients (27%) who developed postoperative glaucoma. CONCLUSION: Despite microcorneas, favorable visual outcomes were achieved after early surgery in this series. However, adequate management of postoperative complications, especially glaucoma, is required.     

The fellow eye of patients with phakic rhegmatogenous retinal detachment from atrophic holes of lattice degeneration without posterior vitreous detachment

BACKGROUND: Primary phakic rhegmatogenous retinal detachment (RRD) without posterior vitreous detachment (PVD) represents a unique clinical entity that behaves differently from RRD associated with PVD. While previous studies have reported the long term findings in the fellow eye of patients with RRD and PVD, the outcome of the fellow eye of patients with RRD without PVD is not known. METHODS: Consecutive patients with RRD not associated with PVD were studied retrospectively. The authors evaluated the fellow eye for retinal detachment or other vision threatening pathology. RESULTS: 27 patients (mean age 32 years) were studied with follow up of between 9 and 326 months (mean 111 months). 24 (89%) were myopic. Bilateral retinal detachment occurred in eight patients (30%). On initial examination, 17 patients (63%) had retinal findings (including lattice degeneration, atrophic holes, and/or cystic retinal tufts) in the fellow eye that might predispose them to retinal detachment. 14 vision threatening events or diagnoses occurred (nine of which were rhegmatogenous in nature) in the fellow eye including eight retinal detachments, one traumatic PVD without retinal tears, one retinal tear after PVD, one diagnosis of pigmentary glaucoma needing trabeculectomy, two visually significant cataracts, and one diagnosis of chorioretinitis. 23 patients (85%) maintained visual acuity better than 20/50, with most retaining 20/20 vision in the fellow eye. CONCLUSIONS: Patients who experience RRD without PVD are at risk of developing vision threatening events in the contralateral eye and, as such, the fellow eye should be followed carefully.     

Lens-sparing vitrectomy for stage 4 and stage 5 retinopathy of prematurity

PURPOSE: To describe the results of lens-sparing vitrectomy for the correction of retinal detachment associated with retinopathy of prematurity (ROP) and its associated complications. METHODS: Seventeen patients who underwent a lens-sparing vitrectomy for stage 4 and stage 5 ROP with plus disease at Seoul National University Children' s Hospital between 1999 and 2003 were enrolled in this study. The patients who had bilateral retinal detachment of ROP underwent a lens-sparing vitrectomy in one eye and a scleral buckling surgery or lensectomy-vitrectomy in the other eye. The patients who had a retinal detachment in one eye and a regressed ROP in the other eye underwent unilateral lens-sparing vitrectomies. A review of their preoperative clinical findings (including the status of retinal detachment and plus disease), post-operative results, and any complications encountered was performed. RESULTS: In 17 patients, the postoperative success rate of lens-sparing vitrectomy was 58.8%. However, lens-sparing vitrectomy as a treatment for stage 5 ROP (25.0%) produced more negative post-operative results than it did when used to treat either those for stage 4a (75,0%) or 4b (66.7%) ROP. Among the 10 eyes in which the retina was attached, form vision was shown in six eyes, light could be followed by three eyes, and no light perception was present in one eye. Intra- and post-operative complications included retinal break formation, cataracts, vitreous hemorrhages, and glaucoma in patients with stages 4b and stage 5 ROP. CONCLUSIONS: Lens-sparing vitrectomy resulted in encouraging surgical outcomes in the correction of retinal detachment of ROP, especially in stage 4 patients. Therefore, a lens-sparing vitrectomy for stage 4 ROP patient may be beneficial, although it is still associated with some intra- and post-operative complications.     

家族性渗出性玻璃体视网膜病变相关视网膜脱离的手术治疗及进展

家族性渗出性玻璃体视网膜病变(FEVR)是一种遗传性视网膜血管疾病,最典型的临床特征是周边无血管区,病情进展可导致视网膜脱离,晚期可继发白内障、青光眼、角膜混浊甚至眼球萎缩,是亚洲儿童、青少年视网膜脱离的主要原因之一。FEVR相关视网膜脱离主要通过手术治疗,包括玻璃体切除术、巩膜扣带术,有时联合视网膜光凝术、抗血管内皮生长因子(VEGF)治疗等。手术方式选择有赖于详细的术前、术中评估,包括患眼分型、分期、纤维增殖情况和眼前段并发症等,不同分期患眼解剖及视功能预后大不相同。孔源性视网膜脱离成年患者的手术复位率较为理想,而牵拉性视网膜脱离儿童患者手术复位率相对较低。低龄、晚期患者手术难度大、预后不良,手术治疗策略存在争议。本文就FEVR相关视网膜脱离的手术治疗效果与进展进行综述。     

Cataracts in congenital toxoplasmosis

PURPOSE: To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. METHODS: Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts were reviewed. RESULTS: In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and leukovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth and 13 developed postnatally. Locations of the cataracts included anterior polar (three eyes), anterior subcapsular (six eyes), nuclear (five eyes), posterior subcapsular (seven eyes), and unknown (six eyes). Thirteen cataracts were partial, nine total, and five with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. CONCLUSIONS: In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity.     

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations

Background: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome.

Materials and Methods: Retrospective, single-center, case series of patients with Stickler syndrome. Demographics, clinical features, genetic mutations, and long-term surgical outcomes of eyes that experienced retinal detachment or diagnosed with infantile-onset glaucoma were assessed.

Results: Fifteen patients were identified with a mean age of 13 years at presentation and followed for a mean of 6 years. Two-thirds were male. Genetic analysis was performed as part of routine examination in nine patients from eight families. All were identified as having variants in COL2A1, three of which were novel. Six eyes of six patients experienced retinal detachment. Fifty percent of eyes without prophylactic laser treatment experienced retinal detachment, whereas only 5% of eyes that underwent prophylactic therapy detached. Despite surgical intervention for retinal detachment, five eyes became phthisical. Five eyes of three patients were diagnosed with infantile-onset glaucoma. All five eyes required multiple glaucoma surgeries, and three eyes became phthisical.

Conclusions: This study illustrates the surgical challenges encountered in patients with Stickler syndrome. Additionally, infantile-onset glaucoma may be more prevalent than previously reported and presents a challenge in terms of management. A multidisciplinary approach is recommended to provide optimal care to these patients.     

Intraocular correction in the restorative therapy of children with congenital and traumatic cataracts]

A total of 140 surgeries making use of aspiration irrigation technique were carried out in 105 children with congenital and traumatic cataracts, aged 4 to 14. The Fyodorov-Zakharov iris clips lenses were implanted. The method was found highly effective and low traumatic. Grave complications, such as iridocyclitis, secondary glaucoma, macular edema, retinal detachment were recorded in late period in just few children, in 0.7-5% of cases. Vision acuity of at least 0.3 diopters was achieved in 87.1% of children with congenital and in 85.7% of those with traumatic cataracts. Binocular vision was restored in 81.4 and 83.3%, respectively.     

Combined lensectomy, vitrectomy and scleral fixation of intraocular lens implant after closed-globe injury.

PURPOSE: To describe our experience in the surgical management of cataracts in patients with complications of closed-globe injury using pars plana lensectomy (PPL), pars plana vitrectomy (PPV), and scleral fixation of posterior chamber intraocular lens (PCIOL). METHODS: We retrospectively reviewed charts of all patients with closed-globe injury who underwent PPL, PPV and scleral fixation of PCIOL at our institution between January 1991 and July 1997. We identified 28 eyes; because of less than 2 weeks follow-up, 4 eyes were excluded from the current study. All eyes had lens subluxation/dislocation and visually significant cataract. Additional indications for surgery included secondary glaucoma (10 eyes), vitreous hemorrhage (3 eyes) and retinal detachment (1 eye). RESULTS: The postoperative follow-up interval ranged from 6 to 61 months (mean 18.5 months). Preoperative visual acuity (VA) ranged from 20/60 to hand motion and was 20/100 or better in 6 eyes (25%). Postoperatively, 19 eyes (79%) improved to 20/100 or better. Five eyes had subsequent surgery for the following indications: retinal detachment (2 eyes), poorly controlled glaucoma (2 eyes), and epiretinal membrane formation (1 eye). CONCLUSIONS: In patients undergoing PPL, PPV and scleral fixation of PCIOL for cataract after a closed-globe injury, a substantial visual improvement occurred in a majority of the involved eyes.     

先天性青光眼视网膜脱离的手术治疗

目的探讨先天性青光眼视网膜脱离的特点及手术疗法。方法对28例30眼先天性青光眼视网膜脱离的手术治疗进行回顾性分析。结果手术治疗的28眼中26眼解剖性成功，所有眼术后眼压均增高。随访20例21眼，再次发生视网膜脱离5眼。最终视力提高9眼，不变7眼，下降5眼。最终眼压正常14眼，增高4眼，低眼压3眼。结论视网膜脱离范围和PVR的严重程度是影响先天性青光眼视网膜脱离患者视功能预后的主要因素。及时治疗并保持眼压的稳定，可以保持和提高视功能。     

Preserve the (intraocular) environment: the importance of maintaining normal oxygen gradients in the eye

Oxygen levels in the eye are generally low and tightly regulated. Oxygen enters the eye largely by diffusion from retinal arterioles and through the cornea. In intact eyes, oxygen from the retinal arterioles diffuses into the vitreous body. There is a decreasing oxygen gradient from the retina to the lens, established by oxygen consumption by ascorbate in the vitreous fluid and lens metabolism. Age-related degeneration of the vitreous body or removal during vitrectomy exposes the posterior of the lens to increased oxygen, causing nuclear sclerotic cataracts. Lowering oxygen in the vitreous, as occurs in patients with ischemic diabetic retinopathy, protects against cataracts after vitrectomy. Vitrectomy and cataract surgery increase oxygen levels at the trabecular meshwork and with it the risk of open angle glaucoma. Two additional risk factors for glaucoma, African heritage and having a thinner cornea, are also associated with increased oxygen in the anterior chamber angle. Preservation of the vitreous body and the lens, two important oxygen consumers, would protect against nuclear sclerotic cataracts and open angle glaucoma. Delaying removal of the lens for as long as possible after vitrectomy would be an important step in delaying ocular hypertension and glaucoma progression.     

Glaucoma after vitreo-retinal surgery with silicone oil injection: epidemiologic aspects

Purpose: To evaluate the prevalence of glaucoma after pars plana vitrectomy with silicone oil injection and to determine the different clinical forms. Methods: Authors have carried out a retrospective longitudinal study on patients who underwent pars plana vitrectomy with silicone oil injection from 1981 to 1995. The examined population consists of 301 patients (301 eyes), with an age ranging from 8 to 85 years, affected by retinal detachment and proliferative vitreoretinopathy. Results: The prevalence of the secondary glaucoma has been 18.5%. In all cases glaucoma was caused by trabecular meshwork obstruction due to silicone oil emulsification. The glaucoma has been more frequent after surgery for recurrent rhegmatogenous retinal detachment with fibrous PVR (52.86%) and for particular forms of rhegmatogenous retinal detachment (giant tears, multiple breaks, pseudophakia) with incipient PVR (30%). Conclusion: Glaucoma after intravitreal silicone oil injection for complicated retinal detachments is a relatively frequent complication mostly when surgery needs endophotocoagulation, endodiatermy and lensectomy.     

Statistical analysis of Marfan's syndrome

To evaluate the ocular complications of Marfan's syndrome which cause severe visual disturbance, we retrospectively investigated 104 patients (208 eyes) with Marfan's syndrome. Dislocation of the lens, the most frequent ocular manifestation, was detected in 151 eyes (72.6%). There were 33 eyes with a visual acuity 0.1 or less. In this group, we found retinal detachment in 12 eyes (36.4%) and glaucoma in 5 eyes (15.2%) as the causes of visual disturbance. Among 17 eyes with retinal detachment, 5 eyes (29.4%) had horizontally dislocated lens. On the other hand. The lens dislocation in a downward direction was found in 5 (22.7%) of 22 eyes with glaucoma. No lens dislocation in an upward direction was found in eyes with glaucoma. The incidence of retinal detachment in aphakic eyes (5/31, 16.1%) was higher than that in the phakic group (16/177, 9.0%). In only 2 (3.6%) of 56 eyes, did the lens dislocation become markedly worse during the observation period. From these data, we re-confirmed that retinal detachment and glaucoma are the most important ocular complications of Marfan's syndrome leading to severe visual disturbance. The decision to operate on the dislocated lens should be made cautiously.     

Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome

Purpose To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Methods Case report. Results Four eyes of two patients with Hallermann-Streiff syndrome developed exudative retinal detachments after lensectomy and anterior vitrectomy at 2 and 4 months of age. Both patients had extreme microphthalmia. The exudative retinal detachment regressed spontaneously in three of the four eyes; however, one eye required subscleral sclerectomy. In one patient, the best-corrected visual acuity was 20/200 at 3 years of age; the other patient had good fixation and following behavior in each eye at 1 year of age. Conclusions Early surgery to treat congenital cataracts in extremely microphthalmic eyes associated with the Hallermann-Streiff syndrome may induce exudative retinal detachment. However, the retinal detachments tend to regress and may not cause severe visual impairment. The authors have no proprietary interest in any aspect of this report.     

常见眼病患者视力康复情况

目的：了解严重影响视力的５种眼疾的视力康复情况。 方法统计分析１８６例 ２２７眼白内障、视网膜脱离、角膜炎、青光眼和眼外伤的视力康复情况。 结果白内障、视网膜脱离、角膜炎、青光眼和眼外伤的视力康复率分别为４４．０％、５８．１％、６８．８％、１４．７％和２４．３％。白内障、视网膜脱离、角膜炎的视力康复率无显著性差异（Ｐ＞０．０５）；青光眼和眼外伤的视力康复率亦无明显差异（Ｐ＞０．０５）；前三者视力康复率明显高于后二者，有显著性差异（Ｐ＜０．０１）。 结论白内障、视网膜脱离、角膜炎临床疗效较好；而青光眼重在早期发现、早期治疗；眼外伤则重在防护。     

The effects of external subretinal fluid drainage on secondary glaucoma in Coats' disease.

PURPOSE: We sought to investigate the effect of external subretinal fluid drainage (SRFD) on secondary or impending secondary glaucoma caused by bullous exudative retinal detachment for saving eyes with Coats' disease. METHODS: By retrospective chart review, we collected the treatment results of 56 patients younger than 15 years of age with Coats' disease. External SRFD was performed when exudative retinal detachment became bullous enough to cause anterior displacement of the lens-iris diaphragm or when secondary angle-closure glaucoma occurred. Treatment results were regarded as successful when secondary angle-closure glaucoma was prevented or responded to treatment. RESULTS: The mean age of those who underwent external SRFD was 3.1+/-1.8 years. Exudative retinal detachment was found in 48 eyes (86%), and external SRFD was needed initially in 19 (28%). External SRFD initially was performed in 19 eyes (28%) and in 2 (3%) after initial cryotherapy. Of these 21 eyes, no definite neovascular glaucoma was detected, and it took on average 1.2 SRFDs to treat or prevent secondary angle-closure glaucoma. All treatments were successful, and no eye was enucleated. CONCLUSIONS: External SRFD should be considered early as a treatment for secondary angle-closure glaucoma associated with bullous exudative retinal detachment in Coats' disease.     

Central serous chorioretinopathy and systemic steroid therapy

BACKGROUND: The manifestations of the ocular toxicity of systemic corticosteroids include posterior subcapsular cataracts and glaucoma. We describe 14 cases of serous detachment of the macula due to central serous chorioretinopathy in patients given long-term steroid therapy, which may be another potential ocular side effect of corticosteroid. Cases report: The 14 (9 men and 5 women) patients were aged from 39 to 55 year old. Their systemic diseases were allergic thrombopenic purpura, optic neuritis, kidney or heart transplant, Churg and Strauss vasculitis, facial palsy, rheumatoid arthritis, systemic lupus and a kidney tumor. None of the patients had hypertension. RESULTS: Serous detachment occurred between 6 days and 10 years after the start of steroid treatment. The higher the doses, the earlier the onset of ocular disease. All patients were symptomatic, with rapid onset of blurred vision. Serous detachment was bilateral in two cases. The fluorescein angiographic finding was in most cases a single small focal hyperfluorescent leak from the retinal pigment epithelium which appeared early in the angiogram and increased in size and intensity. No diffuse degradation of the retinal pigment epithelium was seen on the fluorescein angiogram. Five patients underwent laser photocoagulation of the leaking area followed by resorption of subretinal fluid. In other patients, the symptoms disappeared as the doses of steroid were reduced. CONCLUSION: The pathogenesis of central serous chorioretinopathy remains unclear and is controversial. Corticosteroids are known to worsen the prognosis of idiopathic central serous chorioretinopathy, and serous detachment has been reported after renal transplantation. In most of these cases, chorioretinopathy was combined with diffuse leakage from the choriocapillaris. We discuss the relationship between steroid therapy and focal leakage as seen in idiopathic central serous chorioretinopathy. In conclusion, we describe 14 cases of central serous retinopathy whose clinical and fluorescein angiography were fairly typical, without obvious diffuse degradation of the retinal pigment epithelium. All these patients had been given long-term steroid therapy for various diseases.     

Lattice degeneration of the retina and the pigment dispersion syndrome.

Retinal detachment occurs more frequently in patients with pigment dispersion syndrome. We evaluated the incidence of peripheral retinal abnormalities known to predispose to rhegmatogenous retinal detachment in a consecutive series of 60 patients with pigment dispersion syndrome with or without glaucoma. Lattice degeneration was present in at least one eye of 12 patients (20%). Seven patients had bilateral lesions. Full-thickness retinal breaks were found in seven patients (11.7%) and two patients (3.3%) had asymptomatic rhegmatogenous retinal detachments that required scleral buckle procedures. The incidence of lattice degeneration and full-thickness retinal breaks appears to be increased in this group of patients, and may be responsible for the increased risk of rhegmatogenous detachment.     

Frequency of ciliary body or retinal breaks and retinal detachment in eyes with atopic cataract

AIM: To determine the frequency of ciliary body or retinal breaks and retinal detachment in eyes with atopic cataract. METHODS: The records of 106 eyes (74 patients) with atopic cataract that underwent cataract extraction were reviewed. The frequency of ciliary body or retinal breaks and retinal detachment was classified by their presence preoperatively and postoperatively, and by cataract type. RESULTS: Breaks were detected preoperatively in 27 eyes (25.5%) of 17 patients in the ciliary body (20 eyes, 18.9%), near the ora serrata (five eyes, 4.7%), and in undefined locations (two eyes, 1.9%). Among these, 16 eyes (15.1%) had already developed retinal detachment. After surgery, a ciliary body break occurred in one eye (0.9%) and retinal detachment in four eyes (3.8%) of three patients. The breaks that caused postoperative retinal detachment were in the ciliary body. When classified by cataract type, the highest frequency of breaks was associated with mature cataracts (35.0%), and all eyes with breaks developed retinal detachment. CONCLUSIONS: One fourth of eyes with atopic cataract had breaks in the ciliary body or ora serrata, or retinal detachment preoperatively. The highest frequency of either breaks or retinal detachment was associated with mature cataract. The frequency of breaks or detachment that occurred postoperatively (approximately 5%) was lower than that present preoperatively.