Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation

M. Cahill, M. O'Keefe, R. Acheson, A. Mulvihill, David K. Wallace, D. Mooney

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Purpose: An increasing variety of eponymous terms have been used to describe atypical cases of Coats' disease. A group of typical cases of Coats' disease and other cases of differing severity were classified as one of four subtypes of idiopathic retinal telangiectasis with exudation and compared with regard to clinical outcome. Methods: In a retrospective clinical review patients with typical and atypical Coats' disease were classified as severe, focal, juxtafoveal or associated (with another disease) forms of idiopathic retinal telangiectasis with exudation. Results: 53 eyes in 50 patients were examined of which 62% (n=31) were male. 12 eyes were classified as severe (group 1), 22 focal (group 2), 12 juxtafoveal (group 3) and 7 associated (group 4). The mean age at diagnosis was lowest in group 1 eyes (6.8 years). The best visual acuity at presentation was 6/60 in group 1 whereas high proportions of eyes in the other groups had initial visual acuities of 6/24 or better. In group 1 only one eye was treated, the majority of eyes were blind or had been enucleated whereas 34 (79%) of eyes in the other groups were suitable for treatment and 29 eyes (67%) retained pre-treatment visual acuity or better at last follow-up. Conclusions: Idiopathic retinal telangiectasis with exudation is a spectrum of disease, which is synonymous with Coats' disease. In this retrospective study eyes with severe idiopathic retinal telangiectasis with exudation corresponding to typical Coats' disease, have poorer vision at presentation, are less suitable for treatment and have worse outcomes than eyes with other subtypes. The spectrum of disease severity seen in idiopathic retinal telangiectasis with exudation may be due to second somatic mutations in genes with an existing germline mutation (the two hit theory) and a mosaic phenotype.

Original languageEnglish (US)
Pages (from-to)596-602
Number of pages7
JournalActa Ophthalmologica Scandinavica
Volume79
Issue number6
DOIs
StatePublished - Dec 24 2001
Externally publishedYes

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Retinal Telangiectasis
Visual Acuity
Germ-Line Mutation
Therapeutics
Retrospective Studies

Keywords

  • Coats' disease
  • Idiopathic retinal telangiectasis with exudation
  • Retrospective review
  • Spectrum of severity
  • Two hit theory

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation. / Cahill, M.; O'Keefe, M.; Acheson, R.; Mulvihill, A.; Wallace, David K.; Mooney, D.

In: Acta Ophthalmologica Scandinavica, Vol. 79, No. 6, 24.12.2001, p. 596-602.

Research output: Contribution to journalArticle

Cahill, M. ; O'Keefe, M. ; Acheson, R. ; Mulvihill, A. ; Wallace, David K. ; Mooney, D. / Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation. In: Acta Ophthalmologica Scandinavica. 2001 ; Vol. 79, No. 6. pp. 596-602.
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abstract = "Purpose: An increasing variety of eponymous terms have been used to describe atypical cases of Coats' disease. A group of typical cases of Coats' disease and other cases of differing severity were classified as one of four subtypes of idiopathic retinal telangiectasis with exudation and compared with regard to clinical outcome. Methods: In a retrospective clinical review patients with typical and atypical Coats' disease were classified as severe, focal, juxtafoveal or associated (with another disease) forms of idiopathic retinal telangiectasis with exudation. Results: 53 eyes in 50 patients were examined of which 62{\%} (n=31) were male. 12 eyes were classified as severe (group 1), 22 focal (group 2), 12 juxtafoveal (group 3) and 7 associated (group 4). The mean age at diagnosis was lowest in group 1 eyes (6.8 years). The best visual acuity at presentation was 6/60 in group 1 whereas high proportions of eyes in the other groups had initial visual acuities of 6/24 or better. In group 1 only one eye was treated, the majority of eyes were blind or had been enucleated whereas 34 (79{\%}) of eyes in the other groups were suitable for treatment and 29 eyes (67{\%}) retained pre-treatment visual acuity or better at last follow-up. Conclusions: Idiopathic retinal telangiectasis with exudation is a spectrum of disease, which is synonymous with Coats' disease. In this retrospective study eyes with severe idiopathic retinal telangiectasis with exudation corresponding to typical Coats' disease, have poorer vision at presentation, are less suitable for treatment and have worse outcomes than eyes with other subtypes. The spectrum of disease severity seen in idiopathic retinal telangiectasis with exudation may be due to second somatic mutations in genes with an existing germline mutation (the two hit theory) and a mosaic phenotype.",
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