Endocrine Ophthalmopathy: Current Ideas Concerning Etiology, Pathogenesis, and Treatment

Jacobson, D. H.; Gorman, Colum A.

doi:10.1210/edrv-5-2-200

Cited by 213 publications

(103 citation statements)

References 3 publications

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“…Nevertheless, the thought has persisted that particular susceptibility must bias a patient toward the development of the eye phenotype rather than such patients simply having a worse form of the same disorder. While some studies have suggested that all patients with GD have a degree of eye involvement (2,27,43,44), others have suggested that GO has a genetic etiology rather than the more likely environmental cause, whether it be orbital anatomy, smoke, or trauma (19,28). Hence, CTLA4 gene polymorphisms were claimed as the immune mechanism pushing patients to a more severe retro-orbital inflammatory response (28), while most recently IL23R has been said to be responsible (19).…”

Section: Discussionmentioning

confidence: 99%

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Yin

Latif

Bahn

et al. 2012

Thyroid

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Background: Graves' disease (GD), including Graves' ophthalmopathy or orbitopathy (GO), is an autoimmune disease with an environmental and genetic component to its etiology. The genetic contribution to the GO clinical phenotype remains unclear. Previous data from our laboratory and others have suggested that GO has no specific genetic component distinct from GD itself, while other reports have occasionally appeared suggesting that polymorphisms in genes such as CTLA4 and IL23R specifically increase the risk for GO. One of the criticisms of all these reports has been the clinical definition of the GO phenotype as distinct from hyperthyroid GD devoid of clinically significant eye involvement. The objective of this study was to take advantage of a phenotypically pure group of GD patients with GO and examine a series of genes associated with GD to determine if any were more definitively associated with GO rather than Graves' thyroid disease itself. Methods: To further examine whether specific susceptibility genes are associated with GO, we have performed further genetic association studies using highly characterized GO patients, many of whom had undergone orbital decompression surgery for their exophthalmos. We genotyped HLA, CTLA4, IL23R, and TSHR genes in a group of 256 Caucasian patients with severe GO (n = 199) and less severe GO (n = 57), and 90 patients with GD but no clinically apparent GO. Results: We found that the allele and genotype frequencies were not statistically different between GO and non-GO patients for any of the genes and gene combinations assessed. Conclusions: These results provide further evidence that patients with GO do not have a distinct genetic susceptibility to their eye disease and again suggest that environmental and/or epigenetic influences are at play.

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Section: Discussionmentioning

confidence: 99%

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Yin

Latif

Bahn

et al. 2012

Thyroid

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“…The effect of steroid pulse therapy on eyelid retraction in euthyroid Graves' disease has not been reported [11,12]. Intravenous methylprednisolone pulse therapy may thus be useful in treating eyelid retraction of euthyroid Graves' disease not related to sympathetic overactivity.…”

Section: Discussionmentioning

confidence: 99%

Sympathetic Overactivity in the Development of Eyelid Retraction in a Patient with Euthyroid Graves' Disease Evaluated by Accommodation.

Hamada¹,

Okamoto²,

Yoshida³

et al. 2000

Endocr J

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Abstract.It is known that measurement of accommodation is useful to evaluate the sympathetic activity of intraocular muscles. To find if sympathetic overactivity is involved in eyelid retraction in euthyroid Graves' disease, we measured accommodation in two patients with this disease, whose serum concentrations of free T3, free T4 and TSH were within reference ranges. Accommodation was measured with a computer-assisted infrared optometer with an iriscoder, and the results were expressed as the change in the eye's refractive power (in diopters) in response to the movement of a target beam. In patient 1, the accommodation amplitude was low, indicating sympathetic overactivity. This amplitude rose to near the reference range when timolol maleate drops were used, and the eyelid retraction disappeared when guanethidine drops were given. During the use of guanethidine drops, accommodation remained normal. In patient 2, who had normal accommodation, eyelid retraction did not change with guanethidine administration, but improved with intravenous methylprednisolone pulse therapy. These two cases suggested that even in euthyroid Graves' disease, eyelid retraction is caused by sympathetic overactivity, and pulse therapy with methylprednisolone may be effective for eyelid retraction when guanethidine drops are not effective.

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“…The eye complications associated most typically with hyperthyroidism caused by Graves' disease range from discomfort and lid retraction to disfiguring proptosis, diplopia and sight loss (1,2). Usually called Graves' ophthalmopathy, this condition is better termed thyroid-associated ophthalmopathy (TAO), emphasising the wide spectrum of thyroid disorders in these patients.…”

Section: Introductionmentioning

confidence: 99%

“…Additional information can be obtained from conventional imaging methods such as magnetic resonance imaging (MRI) or computed tomography (CT), which allow gross changes in the retrobulbar space (e.g. muscle swelling, oedema or fibrosis) to be recognised (1,2). By using histology, orbital infiltration with activated T lymphocytes and evidence of local release of cytokines and interactions of lymphocytes with retrobulbar fibroblasts have been demonstrated, suggesting that TAO is an organ-specific autoimmune disease (1,2,5,6).…”

Section: Introductionmentioning

confidence: 99%

“…muscle swelling, oedema or fibrosis) to be recognised (1,2). By using histology, orbital infiltration with activated T lymphocytes and evidence of local release of cytokines and interactions of lymphocytes with retrobulbar fibroblasts have been demonstrated, suggesting that TAO is an organ-specific autoimmune disease (1,2,5,6). Although it is accepted that the pathogenesis of TAO is almost certainly multifactorial, the trigger event seems to be the activation of T cells directed against a thyroid follicular cell antigen(s) that then recognise and bind to a similar antigen(s) in orbital tissue (1,2,6).…”

Section: Introductionmentioning

confidence: 99%

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Clinical implications of somatostatin-receptor scintigraphy in ophthalmic Graves' disease

Colao

Pivonello

Lastoria

et al. 2000

European Journal of Endocrinology

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Endocrine Ophthalmopathy: Current Ideas Concerning Etiology, Pathogenesis, and Treatment

Cited by 213 publications

References 3 publications

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Genetic Profiling in Graves' Disease: Further Evidence for Lack of a Distinct Genetic Contribution to Graves' Ophthalmopathy

Sympathetic Overactivity in the Development of Eyelid Retraction in a Patient with Euthyroid Graves' Disease Evaluated by Accommodation.

Clinical implications of somatostatin-receptor scintigraphy in ophthalmic Graves' disease

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