Exophthalmos
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Exophthalmos | |
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Bilateral exophthalmos in a 17-year old girl with facial symptoms of Pfeiffer syndrome | |
Specialty | Ophthalmology |
Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma.
In the case of Graves' disease, the displacement of the eye results from abnormal connective tissue deposition in the orbit and
If left untreated, exophthalmos can cause the eyelids to fail to close during sleep, leading to
Causes
According to the
- 4p partial monosomy syndrome
- Acrocephalosyndactyly type I
- Acrofrontofacionasal dysostosis type 2
- Aneurysm-osteoarthritis syndrome
- Antley-Bixler syndrome
- Atelosteogenesis type I
- Autism spectrum disorder due to AUTS2deficiency
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Autosomal dominant Robinow syndrome1-3
- congenital ichthyosis4B
- Autosomal recessive osteopetrosis5, 7
- Autosomal recessive Robinow syndrome
- Axenfeld-Rieger anomalywith partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- Axenfeld-Rieger syndrometype 3
- Beare-Stevenson cutis gyrata syndrome
- Beckwith-Wiedemann syndrome
- Bohring-Opitz syndrome
- Cardio-facio-cutaneous syndrome
- Catel-Manzke syndrome
- Childhood hypophosphatasia
- joint dislocations, gPAPP type
- Cloverleaf skull syndrome
- COG1 congenital disorder of glycosylation
- Cole-Carpenter syndrome1, 2
- Congenital myopathy 22A, classic
- Congenital myopathy 22B, severe fetal
- Cornelia de Lange syndrome 1
- Craniosynostosis 4
- Craniosynostosis and dental anomalies
- Crouzon syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Cutis laxa, autosomal recessive, types 1B and 2E
- Developmental and epileptic encephalopathy, 48, 75, and 80
- Donnai-Barrow syndrome
- Ehlers-Danlos syndrome, spondylodysplastic type, 1 and 2
- Familial TSH receptor
- Fibrochondrogenesis 1
- Fibrous dysplasiaof jaw
- Filippi syndrome
- Fontaine progeroid syndrome
- Frank-Ter Haar syndrome
- Graves disease, susceptibility to, 1
- H syndrome
- Holoprosencephaly 2, 3, and 11
- Intellectual disability, X-linked, syndromic 33
- Jackson-Weiss syndrome
- Keppen-Lubinsky syndrome
- Kniest dysplasia
- Larsen-like syndrome, B3GAT3 type
- Leprechaunism syndrome
- Liver disease, severe congenital
- Loeys-Dietz syndrome1, 2
- Mandibuloacral dysplasia progeroid syndrome
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Marbach-Rustad progeroid syndrome
- Marshall-Smith syndrome
- Melnick-Needles syndrome
- Microcephalic osteodysplastic primordial dwarfism, type 3
- Microcephaly 3, primary, autosomal recessive
- Microcephaly 5, primary, autosomal recessive
- Muenke syndrome
- NDE1-related microhydranencephaly
- Neonatal pseudo-hydrocephalic progeroid syndrome
- Nestor-Guillermo progeria syndrome
- Neu-Laxova syndrome1, 2
- Ogden syndrome
- Osteogenesis imperfecta types 7, 8
- Pallister-Killian syndrome
- Periventricular nodular heterotopia7
- Pontocerebellar hypoplasia types 3, 10
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- Prolidase deficiency
- Restrictive dermopathy 2
- Rienhoff syndrome
- Ritscher-Schinzel syndrome4
- Roberts-SC phocomelia syndrome
- Robinow syndrome, autosomal recessive 2
- CREBBPmutations
- Sclerosteosis 1
- Shprintzen-Goldberg syndrome
- Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Spondylometaphyseal dysplasia with corneal dystrophy
- Tetralogy of Fallot
- Thyroid hormone resistance, generalized, autosomal recessive
- Yunis-Varon syndrome
Anatomy
Proptosis is the anterior displacement of the eye from the orbit. Since the orbit is closed off posteriorly, medially and laterally, any enlargement of structures located within will cause the anterior displacement of the eye.[3] Swelling or enlargement of the lacrimal gland causes inferior medial and anterior dislocation of the eye. This is because the lacrimal glands are located superiorly and laterally in the orbit.[3]
Diagnosis
Measurement
Measurement of the degree of exophthalmos is performed using an exophthalmometer.
Most sources define exophthalmos/proptosis as a protrusion of the globe greater than 18 mm.[1]
The term exophthalmos is often used when describing proptosis associated with Graves' disease.[4]
Animals
Exophthalmos is commonly found in
About 40% of proptosed eyes retain vision after being replaced in the
The
See also
References
- ^ ISBN 0-7234-3229-5.
- ^ "Proptosis (Concept Id: C0015300)". www.ncbi.nlm.nih.gov. Retrieved 2024-03-24.
- ^ ISBN 978-1-4160-5454-2.
- ^ Exophthalmos (Proptosis) at eMedicine
- ^ "Prolapse of the Eye". The Merck Veterinary Manual. 2006. Retrieved 2007-03-23.
- ^ Gelatt, Kirk (2002). Treatment of Orbital Diseases in Small Animals. Proceedings of the 27th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-23.
- ^ ISBN 978-0-683-30076-5.[page needed]
- ^ Bjerk, Ellen (2004). Ocular Injuries in General Practice. Proceedings of the 29th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-23.