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The Fundus in Mongolism

The Fundus in Mongolism Abstract • The fundus in 63 eyes of 32 karyotyped patients with mongolism (Down syndrome) was examined by indirect ophthalmoscopy. Common features included a rosy disc associated with a greater than normal number of retinal blood vessels, a generalized attenuation of fundus pigmentation regardless of iris coloration, peripapillary and patchy peripheral areas of pigment epithelial atrophy, and choroidal vascular "sclerosis." These findings are believed to be suggestive but not pathognomonic of mongolism. Eleven eyes of six additional patients were found to have retinal detachment. Eight of these were due to a retinal dialysis and only two could be surgically reattached. Trauma was thought to be an important predisposing factor. Several suggestions for prevention and early diagnosis of this complication are briefly presented. References 1. Down JLH: Observation of ethnic classification of idiots . Lond Hosp Rep 3:259-262, 1866. 2. Lejune J, Gauthier M, Turpin R: Les chromosomes humains en culture de tissues . CR Acad Sci 248:602-603, 1959. 3. Kelley VC (ed): Metabolic, Endocrine, and Genetic Disorders of Children . New York, Harper & Row Publishers Inc, 1974. 4. Wright SW, Day RW, Muller H, et al: The frequency of trisomy and translocation in Down's syndrome . J Pediatr 70:420-424, 1967.Crossref 5. Penrose LS, Smith GF: Down's Anomaly . London, J & A Churchill Ltd, 1966. 6. Lowe RF: The eyes in mongolism . Br J Ophthalmol 33:131-174, 1949.Crossref 7. Ormond AW: Notes on the ophthalmic condition of forty-two mongolian imbeciles . Trans Ophthalmol Soc UK 32:69-76, 1912. 8. Skeller E, Oster J: Eye symptoms in mongolism . Acta Ophthalmol 29:149-161, 1951.Crossref 9. Williams EJ, McCormick AQ, Tischler B: Retinal vessels in Down's syndrome . Arch Ophthalmol 89:269-271, 1973.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

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References (9)

Publisher
American Medical Association
Copyright
Copyright © 1976 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1976.03910030378005
Publisher site
See Article on Publisher Site

Abstract

Abstract • The fundus in 63 eyes of 32 karyotyped patients with mongolism (Down syndrome) was examined by indirect ophthalmoscopy. Common features included a rosy disc associated with a greater than normal number of retinal blood vessels, a generalized attenuation of fundus pigmentation regardless of iris coloration, peripapillary and patchy peripheral areas of pigment epithelial atrophy, and choroidal vascular "sclerosis." These findings are believed to be suggestive but not pathognomonic of mongolism. Eleven eyes of six additional patients were found to have retinal detachment. Eight of these were due to a retinal dialysis and only two could be surgically reattached. Trauma was thought to be an important predisposing factor. Several suggestions for prevention and early diagnosis of this complication are briefly presented. References 1. Down JLH: Observation of ethnic classification of idiots . Lond Hosp Rep 3:259-262, 1866. 2. Lejune J, Gauthier M, Turpin R: Les chromosomes humains en culture de tissues . CR Acad Sci 248:602-603, 1959. 3. Kelley VC (ed): Metabolic, Endocrine, and Genetic Disorders of Children . New York, Harper & Row Publishers Inc, 1974. 4. Wright SW, Day RW, Muller H, et al: The frequency of trisomy and translocation in Down's syndrome . J Pediatr 70:420-424, 1967.Crossref 5. Penrose LS, Smith GF: Down's Anomaly . London, J & A Churchill Ltd, 1966. 6. Lowe RF: The eyes in mongolism . Br J Ophthalmol 33:131-174, 1949.Crossref 7. Ormond AW: Notes on the ophthalmic condition of forty-two mongolian imbeciles . Trans Ophthalmol Soc UK 32:69-76, 1912. 8. Skeller E, Oster J: Eye symptoms in mongolism . Acta Ophthalmol 29:149-161, 1951.Crossref 9. Williams EJ, McCormick AQ, Tischler B: Retinal vessels in Down's syndrome . Arch Ophthalmol 89:269-271, 1973.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: May 1, 1976

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