48 research outputs found
Chorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane
PURPOSE:
To report the chorioretinal coloboma, and its association with increased risk of retinal detachment (RD) and choroidal neovascularization (CNV).
METHODS:
This retrospective case series included eyes with chorioretinal coloboma diagnosed between 1995 and 2014 with a focus on RD and CNV as related complications. Cases of CNV were managed with laser photocoagulation or intravitreal injection of bevacizumab. For eyes with CNV, therapeutic success was defined as resolution of the subretinal hemorrhage on fundus examination and resolution of the subretinal and intraretinal fluid on optical coherence tomography (OCT). For eyes with RD, anatomic success following surgical intervention was defined as attachment of the retina at the last follow-up visit.
RESULTS:
Fifty-one eyes of 31 patients with chorioretinal coloboma were identified for review. Bilateral chorioretinal coloboma was present in 64.5% of subjects. RD developed in 15 eyes (29.4%). Among 15 eyes with RD, 4 eyes (27%) had retinal breaks identified within the coloboma, 5 eyes (33%) had retinal breaks outside the coloboma, 2 eyes (13%) showed retinal breaks both inside and outside the coloboma, and in 4 eyes (27%) the causative retinal break was not localized. The overall rate of anatomic success after RD repair was 85.7%. CNV developed in 7 eyes (13.7%) and was located along the margin of the coloboma in all cases. CNV was bilateral in 2 of the 5 affected individuals (40%).
CONCLUSION:
RD and CNV were present in a high percentage of eyes with chorioretinal coloboma in these series. The frequent finding of retinal breaks outside the coloboma bed suggests that vitreoretinal interface abnormalities may play a role in development of RD in these eyes
Familial Exudative Vitreoretinopathy
Ailevi eksudatif vitreoretinopati (AEVR), özellikle çocukluk çağında görme kaybına yol açan kalıtımsal bir hastalıktır. Hastalığa, NDP, FZD4, LRP5 ve TSPAN12 genlerinde mutasyonun neden olduğu gösterilmiştir. AEVR için X'e bağlı resesif, otozomal dominant ve otozomal resesif kalıtım bildirilmiştir. Bununla birlikte, hastalığın hem genotipik, hem de fenotipik özellikleri değişkenlik göstermektedir. Hastalığa neden olan yeni mutasyonlar da bildirilmektedir. Perifer retinanın avasküler olması, hastalığın ilk ve en belirgin bulgusudur. Hastalık ilerledikçe, genotipik özelliklere de bağlı olarak, retinada neovaskülarizayon, subretinal eksudasyon, kısmi veya total retina dekolmanı meydana gelir. Erken tanı ve lazer fotokoagülasyon ve anti-VEGF enjeksiyonlarını içeren dikkatli takip ile görme kaybı önlenebilir. Retina dekolmanı meydana geldiğinde pars plana vitrektomi, tek başına veya skleral çökertme ile birlikte uygulanır. Sessiz bulguları olan asemptomatik aile bireylerinin tespiti önemlidir. Floresein anjiyografi ile kombine geniş açı görüntüleme sistemleri önemli yarar sağlar. Ayırıcı tanıda Norrie hastalığı, premature retinopatisi ve Coat's hastalığı düşünülmelidirFamilial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variable. Novel mutations contributing to the disease have been reported. The earliest and the most prominent finding of the disease is avascularity in the peripheral retina. As the disease progresses, retinal neovascularization, subretinal exudation, partial and total retinal detachment may occur, which may be associated with certain mutations. With early diagnosis and prompt management visual loss can be prevented with laser photocoagulation and anti-VEGF injections. In case of retinal detachment, pars plana vitrectomy alone or combined with scleral buckling should be considered. Identifying asymptomatic family members with various degrees of insidious findings is of certain importance. Wide-field imaging with fluorescein angiography is crucial in the management of this disease. The differential diagnosis includes other pediatric vitreoretinopathies such as Norrie disease, retinopathy of prematurity, and Coats’ diseas
A Novel Approach to Understanding Pathogenesis and Treatment of Capillary Dropout in Retinal Vascular Diseases.
Capillary dropout is a common sequela of endothelial cell dysfunction that underlies the pathology of multiple retinal vascular diseases, including familial exudative vitreoretinopathy (FEVR). Wide-field fluorescein angiography allowed for identification of areas of capillary inflammatory changes and late-phase angiographic posterior and peripheral vascular leakage (LAPPEL). We propose LAPPEL as a precursor in pathogenesis of capillary dropout and a marker of endothelial cell inflammation in the retina. The authors describe a case of FEVR with significant macular edema associated with LAPPEL, which was successfully treated with topical and intravitreal steroids. The implication for disease mechanism and potential future treatment applications are also discussed
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Screening and treatments using telemedicine in retinopathy of prematurity
Several studies have validated the role of telemedicine as a new powerful screening and diagnostic tool for retinal disorders, such as diabetic retinopathy and retinopathy of prematurity. With regard to retinopathy of prematurity, bedside examination with binocular indirect ophthalmoscopy has been the gold standard technique for screening, yet with several limitations. Herein, we review the current evidence that supports the role of telemedicine for the screening of infants with retinopathy of prematurity
Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body. Autosomal recessive FEVR was diagnosed in multiple individuals from three consanguineous families of European descent. A candidate-locus–directed genome scan shows linkage to the region on chromosome 11q flanked by markers D11S905 and D11S1314. The maximum LOD score of 3.6 at θ=0 is obtained with marker D11S987. Haplotype analysis confirms that the critical region is the 22-cM (311-Mb) interval flanked by markers D11S905 and D11S1314. This region contains LRP5 but not FZD4; mutations in both of these genes cause autosomal dominant FEVR. Sequencing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K. This suggests that mutations in this gene can cause autosomal recessive as well as autosomal dominant FEVR
Screening and treatments using telemedicine in retinopathy of prematurity.
Several studies have validated the role of telemedicine as a new powerful screening and diagnostic tool for retinal disorders, such as diabetic retinopathy and retinopathy of prematurity. With regard to retinopathy of prematurity, bedside examination with binocular indirect ophthalmoscopy has been the gold standard technique for screening, yet with several limitations. Herein, we review the current evidence that supports the role of telemedicine for the screening of infants with retinopathy of prematurity
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Silicone oil in the repair of pediatric complex retinal detachments: A prospective, observational, multicenter study
To report anatomic and visual acuity outcomes, as well as complications, after using 1000-centistoke silicone oil as a retinal tamponade for the treatment of complex retinal detachments in a pediatric population.
A prospective, observational, multicenter study.
The study cohort consisted of 205 patients 16 years of age or younger (211 eyes) treated at community and university-based ophthalmology clinics for complex retinal detachments associated with trauma, proliferative vitreoretinopathy (PVR), giant retinal tear (GRT), or retinopathy of prematurity (ROP).
Vitrectomy surgery for complex retinal detachment with 1000-centistoke silicone oil as the retinal tamponade.
Anatomic outcomes include complete retinal attachment and macular attachment. Visual acuity outcomes include ambulatory vision (≥4/200) and preservation of preoperative visual acuity. Complications include rates of secondary intraocular pressure (IOP) elevation (≥30 mmHg), hypotony (≤5 mmHg), corneal opacification (including band keratopathy, corneal edema, and corneal abrasions), oil emulsification, and cataract. All outcome measures were assessed 6, 12, and 24 months after surgery and at last examination.
At the 6-month examination, the retina was completely attached in 43 (57%) of 76 eyes in the trauma group, 24 (63%) of 38 PVR eyes, 23 (68%) of 34 GRT eyes, and 6 (33%) of 18 ROP eyes. The macula was attached in 60 (79%), 33 (87%), 26 (76%), and 8 (44%) eyes, respectively. Ambulatory vision was achieved in 19 (25%) eyes in the trauma group, 18 (47%) PVR eyes, 19 (56%) GRT eyes, and 4 (22%) ROP eyes. Visual acuity was preserved in 53 (70%), 26 (68%), 28 (82%), and 9 (50%) eyes, respectively. The corresponding rates of complications for traumatic, PVR, GRT, and ROP eyes were: elevated IOP—3 (4%) of 76, 1 (3%) of 38, 1 (3%) of 34, and 0 (0%) of 18; hypotony—9 (12%), 3 (8%), 2 (6%), and 2 (11%); corneal opacity—25 (33%), 8 (21%), 15 (44%), and 5 (28%); emulsification—4 (5%), 1 (3%), 3 (9%), and 1 (6%); and cataract in phakic eyes—1 (33%) of 3, 2 (67%) of 3, 2 (50%) of 4, and 1 (33%) of 3.
Retinal reattachment and preserved visual acuity were achieved in the majority of eyes using vitrectomy and silicone oil retinal tamponade. Complete retinal and macular attachment was achieved less frequently in ROP eyes than in eyes in the other diagnostic groups. Use of 1000-centistoke silicone oil can be considered in the management of pediatric complex retinal detachments associated with multiple etiologies