Coats’ Disease Diagnosed in Adulthood
TL;DR: Coats' disease can first be diagnosed in adulthood with retinal vascular abnormalities similar to those seen in younger patients, including limited area of involvement, slower apparent progression of disease, and hemorrhage near larger vascular dilatations.
About: This article is published in Ophthalmology.The article was published on 2005-06-01. It has received 92 citations till now. The article focuses on the topics: Coats' disease & Vascular disease.
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TL;DR: This case is submitted by Drs.
Abstract: This case is submitted by Drs. Francisco J. Ascaso, Maria Rojo, and Enrique Minguez from the Department of Ophthalmology, “Lozano Blesa” University Clinic Hospital, Zaragoza, Spain, for the Diagnostic and Therapeutic Challenges Section of Retina; and commented by Dr. Steven M. Cohen, Clearwater, Flo
224 citations
TL;DR: Results strongly support that reduced RCBTb1 expression may lead to defects in angiogenesis through the Norrin-dependent Wnt pathway, and that RCBTB1 is a putative genetic cause of vitreoretinopathies.
Abstract: Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two heterozygous frameshift mutations in RCBTB1 from three Taiwanese cases through exome sequencing. In patient-derived lymphoblastoid cell lines (LCLs), the protein level of RCBTB1 is approximately half that of unaffected control LCLs, which is indicative of a haploinsufficiency mechanism. By employing transient transfection and reporter assays for the transcriptional activity of β-catenin, we demonstrated that RCBTB1 participates in the Norrin/FZD4 signaling pathway and that knockdown of RCBTB1 by shRNA significantly reduced nuclear accumulation of β-catenin under Norrin and Wnt3a treatments. Furthermore, transgenic fli1:EGFP zebrafish with rcbtb1 knockdown exhibited anomalies in intersegmental and intraocular vessels. These results strongly support that reduced RCBTB1 expression may lead to defects in angiogenesis through the Norrin-dependent Wnt pathway, and that RCBTB1 is a putative genetic cause of vitreoretinopathies.
60 citations
TL;DR: Compared with published studies of Coats disease, this study has found milder disease severity at presentation, most likely because of the population-based nature of the study reflecting the full disease spectrum.
Abstract: A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis
55 citations
TL;DR: The spectrum of diseases associated with exudative retinal detachment in uveitis clinics is discussed and the pathogenesis and the differential diagnosis of exudatives are discussed.
47 citations
TL;DR: Carefully selected treatment can improve almost each eye with Coats disease complicated by retinal detachment, although visual outcome is poor, anatomic improvement or stability is the main goal of the management.
Abstract: Purpose: To correlate the final outcome with the initial presentation and treatment in Coats disease retinal detachment. Methods: The records of 15 patients with retinal detachment were evaluated retrospectively regarding the age at the time of diagnosis, initial presentation, methods of treatment, visual and anatomic results, and complications. Changes in vision and retinal status were noted and correlated with the different methods of treatment to propose a therapeutic strategy. Results: In 15 patients (15 eyes), with a mean follow-up of 28 months (range, 6 months to 7 years), Coats disease was diagnosed at a mean age of 3.4 years (range 3 months to 15 years). Primary management was laser photocoagulation in seven patients, cryotherapy in two, and vitreoretinal surgery in six. Additional treatment was necessary in nine patients of whom six had laser photocoagulation, one had cryotherapy, and two had vitreoretinal surgery. Visual stability was achieved in 12 cases. Anatomic improvement was achieved in 12 eyes (3 cases of phthisis bulbi). No enucleation was ultimately necessary. Conclusions: Carefully selected treatment can improve almost each eye with Coats disease complicated by retinal detachment. Although visual outcome is poor, anatomic improvement or stability is the main goal of the management.
44 citations
References
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TL;DR: Vascular endothelial growth factor is sufficient to produce many of the vascular abnormalities common to diabetic retinopathy and other ischemic retinopathies, such as hemorrhage, edema, venous beading, capillary occlusion with ischemia, microaneurysm formation, and intraretinal vascular proliferation.
505 citations
TL;DR: Carefully selected treatment can anatomically stabilize or improve the eye with Coats disease in 76% of eyes, however, poor visual outcome of 20/200 or worse commonly results, and patients with stages 4 and 5 have a poor visual prognosis.
319 citations
TL;DR: Coats disease is a distinct clinical entity characterized by idiopathic retinal telangiectasia and retinal exudation that is usually unilateral, occurs mostly in young males, and can cause severe visual loss resulting from exudative retinal detachment.
285 citations
TL;DR: It is demonstrated that VEGF alone can produce many features of both nonproliferative and proliferative diabetic retinopathy including the previously undescribed development of preretinal neovascularization.
255 citations
TL;DR: In this paper, the authors describe the clinical features of vasoproliferative tumors of the ocular fundus and propose a comprehensive classification of these tumors, which can produce a variety of complications.
Abstract: Objective: To describe the clinical features of vasoproliferative tumors of the ocular fundus and to propose a comprehensive classification of these tumors. Methods: A retrospective review of all cases that were diagnosed as acquired retinal hemangioma or vasoproliferative retinal tumor was conducted on the Ocular Oncology Service at Wills Eye Hospital, Philadelphia, Pa. Results: There were 129 vasoproliferative tumors in 113 eyes of 103 patients. The tumors were classified as idiopathic in 84 eyes (74%) and secondary to preexisting ocular disease in 29 (26%). Subclassification into solitary (88 eyes), multiple (17 eyes), and diffuse (eight eyes) involvement was made. Of the 84 eyes with idiopathic tumors, 73 (87%) had solitary tumors, five (6%) had multiple tumors, and six (7%) had diffuse tumors. The lesion was located in the inferior, inferotemporal, or temporal region of the fundus in 78% and developed within 6 mm of the ora serrata retinae in 88%. Associated vitreoretinal findings included intraretinal exudation (82%), secondary exudative retinal detachment (48%), vitreous cells (46%), vitreous hemorrhage (21%), preretinal macular fibrosis (31%), and macular edema (18%). Of the 29 eyes with secondary tumors, the tumor was solitary in 15 (52%), multiple in 12 (41%), and diffuse in two (7%). The most common preexisting ocular disease included intermediate uveitis (pars planitis) in eight eyes (28%), retinitis pigmentosa in six (21%), toxoplasmic retinitis in two (7%), toxocariasis in two (7%), retinochoroidal coloboma in two (7%), and traumatic chorioretinopathy in two (7%). Retinal pigment epithelial hyperplasia was a prominent feature that was adjacent to 58% of the secondary tumors. Overall, management of the 129 tumors consisted of observation in 63 (49%), cryotherapy in 54 (42%), laser photocoagulation in seven (5%), plaque radiotherapy in three (2%), and other modes of treatment in two (2%). Conclusions: Vasoproliferative retinal tumors can be idiopathic, or they can develop secondary to congenital, inflammatory, vascular, traumatic, dystrophic, and degenerative ocular diseases. They can produce a variety of complications. Awareness and recognition of these tumors and differentiation from other retinal vascular tumors are important.
187 citations