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)

Dysthyroid orbitopathy is a disease that is edematous and inflammatory, generally chronic, sometimes subacute or acute, and is characterized by exophthalmos in the majority of cases, retraction of the lid, restrictive strabismus with diplopia, corneal ulceration, ocular hypertension, and compressive optic neuropathy. Proptosis is the cardinal sign. Exophthalmos is frequently axial and is bilateral in 85%-90% of cases. Displacement of the globe in the vertical and horizontal axes is not rare, particularly when intense enlargement of an extraocular muscle produces a mass effect. Proptosis stems from a conflict for the space in the orbital cavity. The infiltration of the fat, muscles, and lacrimal gland by lymphocytes, plasma cells, and mucopolysaccharides, which are very hydrophilic, all contribute to the orbitopathy. The majority of patients with minimal exophthalmos do not require special treatment since they tend to improve spontaneously. In severe forms, it is important to evaluate the activity for steroid use to eliminate the inflammation in the soft tissues and to make rehabilitative surgery possible under better conditions. When a good response is not obtained, radiotherapy is evaluated. The surgical treatment by bone orbital decompression and sometimes lipectomy is indicated in inactive forms, disfiguring exophthalmos, certain particular cases such as dysthyroid optic neuropathy, ocular hypertension, corneal exposition.
 ...
PMID:[Basedow exophthalmos]. 1985 65

Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop irreversible pathologies, which ultimately lead to premature death. To foster timely treatment and ensure a better outcome, it is of utmost importance to recognize and evaluate the typical ocular features that present fairly early in the course of the disease in many children with MPS. These include corneal clouding, ocular hypertension/glaucoma, retinal degeneration, optic disc swelling and optic nerve atrophy. Other associations include pseudo-exophthalmos, amblyopia, strabismus and large refractive errors requiring spectacle correction. While some ocular manifestations require specialized equipment for detecting abnormalities, light sensitivity, pseudo-exophthalmos and strabismus are often apparent on a routine physical examination. In addition, patients may be symptomatic from vision impairment, photosensitivity, night blindness and visual field constriction. Combined with the skeletal/joint complications and other manifestations, these ocular features are key in the differential diagnosis of children with joint abnormalities. Rheumatologists should have a high index of suspicion for MPS to facilitate early diagnosis. Referral to a geneticist, a metabolic specialist or physician who specializes in MPS can confirm the diagnosis and provide disease management. Consultation with an ophthalmologist who has expertise in MPS is also needed for thorough examination of the eyes and regular follow-up care.
 ...
PMID:Ocular manifestations as key features for diagnosing mucopolysaccharidoses. 2221 Jun 68

A case of optociliary veins, disc pallor, and long-standing visual loss in an eye of a patient followed from age two to age 25 is presented. A review of the literature indicates the above triad to be usually suggestive of sphenoidal ridge meningioma. Our case, the youngest thus far reported in the literature, also developed ocular hypertension in this eye and exophthalmos. The patient has refused further diagnostic workup.
J Pediatr Ophthalmol Strabismus
PMID:Optociliary veins, visual loss, and disc pallor in a child with a 22 year follow-up. 2487 46