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Vitreoretinal Degeneration in Spondyloepiphyseal Dysplasia Congenita

Vitreoretinal Degeneration in Spondyloepiphyseal Dysplasia Congenita Abstract • Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism with normal mental development. Seven patients had non-progressive myopia of 5.00 or more diopters. Vitreoretinal degeneration was encountered in six patients with high myopia, and vitreous syneresis was present in all patients. Corrected visual acuity was 20/50 or better in all patients. Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients. References 1. Spranger J, Wiedemann HR: Dysplasia spondyloepiphysaria congenita . Helv Paediatr Acta 1966;21:598-611. 2. Spranger J, Wiedemann HR: Dysplasia spondyloepiphysaria congenita . Lancet 1966;2:642.Crossref 3. Spranger J, Langer LO Jr: Spondyloepiphyseal dysplasia congenita . Radiology 1970;94:313-322.Crossref 4. Spranger J, Langer LO, Wiedemann HR: Spondyloepiphyseal dysplasia congenita , in Bone Dysplasias: An Atlas of Constitutional Disorders of Skeletal Development . Stuttgart, Germany, G Gustav Fischer Verlag, 1974, pp 95-101. 5. Fraser GR, Friedmann AI, Maroteaux P, et al: Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps . Arch Dis Child 1966;44:490-498.Crossref 6. Roaf R, Longmore JB, Forrester RM: A childhood syndrome of bone dysplasia, retinal detachment and deafness . Dev Med Child Neurol 1967;9:464-473.Crossref 7. Rosenthal AR, Ryan SJ Jr, Horowitz P: Ocular manifestations of dwarfism . Trans Am Acad Ophthalmol Otolaryngol 1972;76:1500-1518. 8. Spranger J: Diseases of connective tissue . Birth Defects 1979;11:179. 9. D́Epinay SL, Giedion A, Witmer R: Amotio retinae bei der kongenitalen spondyloepiphysären Dysplasie . Klin Monatsbl Augenheilkd 1969;155:810-817. 10. Maumenee IH: Vitreoretinal degeneration as a sign of generalized connective tissue diseases . Am J Ophthalmol 1979;88:432-449. 11. Williams BR, Cranley RE: Morphologic observation on four cases of SED congenita . Birth Defects 1974;10:75-87. 12. Merin S, Livni N, Berman ER, et al: Mucolipidosis: IV. Ocular systemic and ultrastructural findings . Invest Ophthalmol Vis Sci 1975;14:437-448. 13. Libert J, Kenyon K, Maumenee IH: Mucolipidosis III (pseudo-Hurler polydystrophy): Ultrastructure of conjunctival biopsies . Metabol Ophthalmol 1977;1:145-148. 14. Kelly TE, Thomas GH, Taylor HA Jr, et al: Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients . Johns Hopkins Med J 1975;137:156-175. 15. Silberberg R: Ultrastructure of cartilage in chondrodystrophies . Birth Defects 1974;10:308. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Vitreoretinal Degeneration in Spondyloepiphyseal Dysplasia Congenita

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Publisher
American Medical Association
Copyright
Copyright © 1982 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1982.01030040082015
Publisher site
See Article on Publisher Site

Abstract

Abstract • Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism with normal mental development. Seven patients had non-progressive myopia of 5.00 or more diopters. Vitreoretinal degeneration was encountered in six patients with high myopia, and vitreous syneresis was present in all patients. Corrected visual acuity was 20/50 or better in all patients. Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients. References 1. Spranger J, Wiedemann HR: Dysplasia spondyloepiphysaria congenita . Helv Paediatr Acta 1966;21:598-611. 2. Spranger J, Wiedemann HR: Dysplasia spondyloepiphysaria congenita . Lancet 1966;2:642.Crossref 3. Spranger J, Langer LO Jr: Spondyloepiphyseal dysplasia congenita . Radiology 1970;94:313-322.Crossref 4. Spranger J, Langer LO, Wiedemann HR: Spondyloepiphyseal dysplasia congenita , in Bone Dysplasias: An Atlas of Constitutional Disorders of Skeletal Development . Stuttgart, Germany, G Gustav Fischer Verlag, 1974, pp 95-101. 5. Fraser GR, Friedmann AI, Maroteaux P, et al: Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps . Arch Dis Child 1966;44:490-498.Crossref 6. Roaf R, Longmore JB, Forrester RM: A childhood syndrome of bone dysplasia, retinal detachment and deafness . Dev Med Child Neurol 1967;9:464-473.Crossref 7. Rosenthal AR, Ryan SJ Jr, Horowitz P: Ocular manifestations of dwarfism . Trans Am Acad Ophthalmol Otolaryngol 1972;76:1500-1518. 8. Spranger J: Diseases of connective tissue . Birth Defects 1979;11:179. 9. D́Epinay SL, Giedion A, Witmer R: Amotio retinae bei der kongenitalen spondyloepiphysären Dysplasie . Klin Monatsbl Augenheilkd 1969;155:810-817. 10. Maumenee IH: Vitreoretinal degeneration as a sign of generalized connective tissue diseases . Am J Ophthalmol 1979;88:432-449. 11. Williams BR, Cranley RE: Morphologic observation on four cases of SED congenita . Birth Defects 1974;10:75-87. 12. Merin S, Livni N, Berman ER, et al: Mucolipidosis: IV. Ocular systemic and ultrastructural findings . Invest Ophthalmol Vis Sci 1975;14:437-448. 13. Libert J, Kenyon K, Maumenee IH: Mucolipidosis III (pseudo-Hurler polydystrophy): Ultrastructure of conjunctival biopsies . Metabol Ophthalmol 1977;1:145-148. 14. Kelly TE, Thomas GH, Taylor HA Jr, et al: Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients . Johns Hopkins Med J 1975;137:156-175. 15. Silberberg R: Ultrastructure of cartilage in chondrodystrophies . Birth Defects 1974;10:308.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jul 1, 1982

References