Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture
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.
About: This article is published in American Journal of Ophthalmology.The article was published on 2001-05-01. It has received 285 citations till now. The article focuses on the topics: Coats' disease & Retinal detachment.
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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: 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: All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.
Abstract: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.
195 citations
TL;DR: An overview of the currently known CRB1 sequence variants is provided, predict their effect, and a genotype–phenotype correlation model forCRB1 mutations is proposed, which is proposed to solve the puzzle of how the gene influences retinal dystrophies.
Abstract: Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA). We extended our investigations of CRB1 in these retinal dystrophies, and identified nine novel CRB1 sequence variants. In addition, we screened patients with "classic" RP and classic Coats disease (without RP), but no pathologic sequence variants were found in the CRB1 gene. In total, 71 different sequence variants have been identified on 184 CRB1 alleles of patients with retinal dystrophies, including amino acid substitutions, frameshift, nonsense, and splice site mutations, in-frame deletions, and large insertions. Recent studies in two animal models, mouse and Drosophila, and in vivo high-resolution microscopy in patients with LCA, have shed light on the role of CRB1 in the pathogenesis of retinal dystrophies and its function in the photoreceptors. In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations.
170 citations
Cites background from "Clinical variations and complicatio..."
...…factor for the development of Coatslike exudative vasculopathy in RP [den Hollander et al., 2001a], we hypothesized that heterozygous CRB1 mutations may form a risk factor for the development of classic Coats disease, a separate entity that develops in patients without RP [Shields et al., 2001]....
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..., 2001a], we hypothesized that heterozygous CRB1 mutations may form a risk factor for the development of classic Coats disease, a separate entity that develops in patients without RP [Shields et al., 2001]....
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TL;DR: Coats disease is an idiopathic condition characterized by retinal vascular telangiectasia and exudative retinopathy that most often affects young males and has been the subject of considerable attention in the ophthalmic literature.
Abstract: Coats disease is a well-known ocular entity that has been the subject of considerable attention in the ophthalmic literature. It is an idiopathic condition characterized by retinal vascular telangiectasia and exudative retinopathy that most often affects young males. The striking ophthalmoscopic fea
140 citations
References
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01 Jan 1992
TL;DR: Considerations.
Abstract: Considerations. Diagnostic Approaches to Intraocular Tumors. General Principles of Management. Introduction to Melanocytic Tumors of the Uvea. Melanocytic Tumors of the Iris Stroma. Choroidal Nevus. Melanocytoma. Posterior Uveal Melanoma. Diagnostic Approaches to Posterior Uveal Melanoma. Diagnostic Approaches to Posterior Uveal Melanoma. Management of Posterior Uveal Melanoma. Metastatic Tumors to the Intraocular Structures. Vascular Tumors of the Uvea. Myongenic Tumors of the Uvea. Neurogenic Tumors of the Uvea. Fibrous and Histiocytic Tumors. Retinoblastoma: Clinical and Pathologic Features. Genetics of Reginoblastoma. Differential Diagnosis of Retinoblastoma. Diagnostic Approach to Retinoblastoma. Management and Prognosis of Retinoblastoma. Vascular Tumors of the Tenina and Optic Disc. Glial Tumors of the Retina and Optic Disc. Tumors and Related Lesions of the Pidment Epitehlium. Tumors of the Nonpigmented Ciliary Epithelium. Intraocular Lymphoid Tumors an Dleukemias. The Systemic Harmatomatoses ("Phakomatoses")
392 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: In this paper, fine-needle aspiration biopsy was performed on selected patients who had intraocular lesions that were suspected clinically to be neoplasms but in which there was diagnostic uncertainty based on noninvasive clinical evaluation.
246 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
171 citations