Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied 62 eyes submitted to the Armed Forces Institute of Pathology (AFIP) from 1958 through 1980 that satisfied our criteria for the histologic diagnosis of Coats' disease. Our histopathologic definition of Coats' disease was the presence of a primary vascular lesion consisting of retinal telangiectasia with leakage of plasma to form intraretinal and subretinal exudates. In the cases we reviewed, Coats' disease occurred more frequently in boys, it usually affected only one eye, and was generally detected in the first decade of life. In 52 cases (79%) the clinical manifestations, strabismus and leukokoria, were thought to be caused by retinoblastoma. Angle closure glaucoma was present in 36 cases (58%). In all but one of the cases studied, the lesion was located peripheral to the equator. We further identified diffuse involvement of capillaries in the peripheral retina using trypsin-digest preparations. Associated histologic findings included: rubeosis iridis, cataract, vitreous neovascularization, and nodules resulting from fibrous metaplasia of the retinal pigment epithelium. These fibrous nodules typically occurred in the macular area and occasionally contained calcium or bone.
J Pediatr Ophthalmol Strabismus
PMID:Coats' disease: a study of 62 histologically confirmed cases. 650 5

We describe five patients from a family of Pakistani origin with inherited retinal telangiectasia and glial proliferation. Characteristics of this condition include: variable visual loss; peripapillary retinal telangiectasia with vascular incompetence on fluorescein angiography; glial proliferation; cystoid macular edema or altered macular pigment; retinal hemorrhage; and abnormal electroretinopathy. We discuss the similarities with and distinguishing features from other documented conditions and the mode of inheritance.
J Pediatr Ophthalmol Strabismus
PMID:Inherited retinal telangiectasia with glial proliferation. 971 94

The myelinated nerve fibers (MNF) are o congenital anomaly characterized by the extension of the myelinisation process anterior from the lamina cribosa. The incidence of myelinated nerve fibers is 0.3-0.6% in patients and 0.54% in eyes from autopsies. Although these represent benign lesion, rarely are associated with retinal abnormalities: vascular abnormality (retinal telangiectasis, cranial-facial lesions, coloboma of the iris, keratoconus, myopia/strabismus, amblyopia). Myelinated nerve fibers asSociated with juxtapapillary haemorrhages was not reported in the available literature. We describe the clinical findings and diagnostic particularities of myelinated retinal nerve fibers associated with juxtapapillary haemorrhages in a personal case. An 40-year-old woman was referred for unilateral papillary abnormalities. The diagnosis was myelinated retinal nerve fibers as white striated patches with feathery edges, associated with two juxtapapillary haemorrhages. The clinical and pathogenic features are discussed. Based on the association between the myelinated nerve fibers, the juxtapapillary haemorrhages there is a possible pathogenic correlation between these elements. The action of the myelinated nerve fibers can be explained by a mechanical compression, with the disruption of the retinal artery, a structural vulnerable artery.
 ...
PMID:[Myelinated nerve fibers associated with juxtapapillary haemorrhages]. 1191 83

A 44-month-old girl developed retinal detachment with extensive telangiectasia and "light bulb" aneurysms suggestive of Coats' disease. However, underlying and within the retina was diffuse retinoblastoma. Diffuse infiltrative retinoblastoma can manifest features of Coats' disease and could lead to diagnostic confusion.
J Pediatr Ophthalmol Strabismus
PMID:Retinoblastoma in an eye with features of Coats' disease. 1702 67

A 16-year-old girl with Parry-Romberg syndrome presented with monolateral exudative neuroretinitis and retinal telangiectasis that had been observed for 42 months. She was treated with immunosuppressive therapy with A-cyclosporine for 1 year, followed by laser treatment of telangiectasis. Her visual acuity improved from 20/200 to 20/70 in 1 year with a reduction of neuroretinal exudation. Laser treatment resulted in a further improvement of visual acuity to 20/40. Clinical findings remained unchanged during 2 years of follow-up. The association of immunosuppressive treatment and laser therapy may improve neuroretinal disease in the presence of Parry-Romberg syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Clinical evolution of neuroretinitis in Parry-Romberg syndrome. 1840 64

Coats' disease is an idiopathic disorder defined by an abnormal development of retinal vessels with a progressive deposition of intraretinal or subretinal exudates, leading to exudative retinal detachment. The most difficult task is to differentiate Coats' disease from retinoblastoma. We present a rare case of Coats' disease diagnosed in a 3-year-old girl. From the age of 6 months, the girl was followed up 2 times a year at the Department of Ophthalmology, Hospital of Lithuanian University of Health Sciences, due to congenital convergent strabismus and refractive errors. At the age of 3.6 years, a routine examination of the fundus of the right eye revealed hard exudates, telangiectasia and tortuosity, gray color lesion below the optic nerve disc, submacular exudation in the inferior nasal part of the retina, and exudative retinal detachment, which extended from the 7-o'clock position to the 4-o'clock position. Before this examination, no abnormalities were found in the fundus of her both eyes. The girl was not treated with laser photocoagulation, cryocoagulation, or intravitreal injections, as the diagnosis of retinoblastoma could not be excluded; therefore, only eye drops were prescribed. In order to exclude the diagnosis of retinoblastoma, ultrasonography, magnetic resonance imaging, and computed tomography were carried out, and an appointment to see an ophthalmic oncologist was scheduled. Due to early and appropriate treatment, the progression of Coats' disease in patients could be arrested. However, in some cases, when the diagnosis is ambiguous, it is better to follow up the patient and to treat only with eye drops.
 ...
PMID:Coats' retinitis or retinoblastoma in a 3-year-old girl: a case report. 2283 96

Coats disease is a rare, non-hereditary retinal vascular abnormality that typically presents in the first two decades of life and is characterized by idiopathic retinal telangiectasia with progressive exudation. The authors describe a patient with Coats disease in which the family neglected treatment, demonstrating the natural course of this disease. [J Pediatr Ophthalmol Strabismus. 2020;57:e82-e85.].
J Pediatr Ophthalmol Strabismus 2020 Oct 20
PMID:Neglected Coats Disease. 3309 Feb 32