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Variable Expressivity of Autosomal Dominant Microcornea With Cataract

Variable Expressivity of Autosomal Dominant Microcornea With Cataract Abstract • Autosomal dominant microcornea with a cataract, previously described in four families, was documented in a seven-generation family. Eighteen family members had microcornea and a cataract, and an additional six had sclerocornea or Peters' anomaly. Most individuals with microcornea had a corneal diameter of less than 11 mm in both meridians, with moderately steep corneal curvatures. The inherited cataract progressed to form a total cataract after visual maturity had been achieved. In the four affected children who had not undergone cataract extraction, the common abnormality was a posterior polar lens opacity. The variability of expressivity of the dominant gene would suggest that the embryological origins of microcornea and sclerocornea are similar. References 1. Johnston MC, Bhakdinaronk A, Reid YC: An expanded role of the neural crest in oral and pharyngeal development , in Bosma JF (ed): Fourth Symposium in Oral Sensation and Perception: Development in the Fetus and Infant . Bethesda, Md, National Institutes of Health, 1974, pp 37-52. 2. Shields MB, Buckley E, Klintworth GK, et al: Axenfeld-Rieger syndrome: A spectrum of developmental disorders . Surv Ophthalmol 1985;29:387-409.Crossref 3. Duke-Elder S: Congenital deformities , in: System of Ophthalmology . London, Kimpton, 1964, vol 3, pt 2, p 503. 4. Francois J: Heredity in Ophthalmology . St Louis, CV Mosby Co, 1961, p 291. 5. Friedman MW, Wright ES: Hereditary microcornea and cataract in five generations . Am J Ophthalmol 1952;35:1017-1021. 6. Polomeno RC, Cummings C: Autosomal dominant cataracts and microcornea . Can J Ophthalmol 1979;14:227-229. 7. Mollica F, Volti SL, Tomarchio S, et al: Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family . Clin Genet 1985;28:42-46.Crossref 8. Green JS, Johnson GJ: Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene . Ophthalmic Paediatr Genet 1986;7:187-194.Crossref 9. Krill AE, Woodbury G, Bowman JE: X-Chromosomal-linked sutural cataracts . Am J Ophthalmol 1969;68:867-872. 10. Walsh FB, Wegman ME: A pedigree of hereditary cataracts, illustrating sex limited type . Bull Johns Hopkins Hosp 1937;61:125. 11. Nettleship E: Seven new pedigrees of hereditary cataract . Trans Ophthalmol Soc UK 1909;29:188-211. 12. Tulloh CG: Hereditary posterior polar cataract with report of a pedigree . Br J Ophthalmol 1955;39:374-379.Crossref 13. Howard RO, Abrahams IW: Sclerocornea . Am J Ophthalmol 1971;71:1254-1258. 14. Goldstein JE, Cogan DG: Sclerocornea and associated congenital anomalies . Arch Ophthalmol 1962;67:761-768.Crossref 15. Elliot JH, Feman SS, O'Day DM, et al: Hereditary sclerocornea . Arch Ophthalmol 1985;103:676-679.Crossref 16. Bloch N: Les différents types de sclérocornée, leurs modes d'hérédité, et les malformations congénitales concomitantes . J Genet Hum 1965;14:133-172. 17. Hittner HM, Kretzer FL, Antoszyk JH, et al: Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations . Am J Ophthalmol 1982;93:57-70. 18. Francois J, Neetens A: Microcornée associée á une hydrophthalmie et á d'autres anomalies héréditaires . Acta Genet Med Gemellol 1955;4:217-229. 19. Mann I: The Development of the Human Eye . New York, Grune & Stratton, 1964, pp 300, 353. 20. Kenyon KR: Mesenchymal dysgenesis in Peters' anomaly, sclerocornea, and congenital endothelial dystrophy . Exp Eye Res 1975;21:125-142.Crossref 21. Kupfer C, Kuwabara T, Stark WJ: The histopathology of Peters' anomaly . Am J Ophthalmol 1975;80:653-660. 22. Bahn CF, Falls HF, Varley GA, et al: Classification of corneal endothelial disorders based on neural crest origin . Ophthalmology 1984;91:558-563.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Variable Expressivity of Autosomal Dominant Microcornea With Cataract

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References (24)

Publisher
American Medical Association
Copyright
Copyright © 1988 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1988.01060130551034
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See Article on Publisher Site

Abstract

Abstract • Autosomal dominant microcornea with a cataract, previously described in four families, was documented in a seven-generation family. Eighteen family members had microcornea and a cataract, and an additional six had sclerocornea or Peters' anomaly. Most individuals with microcornea had a corneal diameter of less than 11 mm in both meridians, with moderately steep corneal curvatures. The inherited cataract progressed to form a total cataract after visual maturity had been achieved. In the four affected children who had not undergone cataract extraction, the common abnormality was a posterior polar lens opacity. The variability of expressivity of the dominant gene would suggest that the embryological origins of microcornea and sclerocornea are similar. References 1. Johnston MC, Bhakdinaronk A, Reid YC: An expanded role of the neural crest in oral and pharyngeal development , in Bosma JF (ed): Fourth Symposium in Oral Sensation and Perception: Development in the Fetus and Infant . Bethesda, Md, National Institutes of Health, 1974, pp 37-52. 2. Shields MB, Buckley E, Klintworth GK, et al: Axenfeld-Rieger syndrome: A spectrum of developmental disorders . Surv Ophthalmol 1985;29:387-409.Crossref 3. Duke-Elder S: Congenital deformities , in: System of Ophthalmology . London, Kimpton, 1964, vol 3, pt 2, p 503. 4. Francois J: Heredity in Ophthalmology . St Louis, CV Mosby Co, 1961, p 291. 5. Friedman MW, Wright ES: Hereditary microcornea and cataract in five generations . Am J Ophthalmol 1952;35:1017-1021. 6. Polomeno RC, Cummings C: Autosomal dominant cataracts and microcornea . Can J Ophthalmol 1979;14:227-229. 7. Mollica F, Volti SL, Tomarchio S, et al: Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family . Clin Genet 1985;28:42-46.Crossref 8. Green JS, Johnson GJ: Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene . Ophthalmic Paediatr Genet 1986;7:187-194.Crossref 9. Krill AE, Woodbury G, Bowman JE: X-Chromosomal-linked sutural cataracts . Am J Ophthalmol 1969;68:867-872. 10. Walsh FB, Wegman ME: A pedigree of hereditary cataracts, illustrating sex limited type . Bull Johns Hopkins Hosp 1937;61:125. 11. Nettleship E: Seven new pedigrees of hereditary cataract . Trans Ophthalmol Soc UK 1909;29:188-211. 12. Tulloh CG: Hereditary posterior polar cataract with report of a pedigree . Br J Ophthalmol 1955;39:374-379.Crossref 13. Howard RO, Abrahams IW: Sclerocornea . Am J Ophthalmol 1971;71:1254-1258. 14. Goldstein JE, Cogan DG: Sclerocornea and associated congenital anomalies . Arch Ophthalmol 1962;67:761-768.Crossref 15. Elliot JH, Feman SS, O'Day DM, et al: Hereditary sclerocornea . Arch Ophthalmol 1985;103:676-679.Crossref 16. Bloch N: Les différents types de sclérocornée, leurs modes d'hérédité, et les malformations congénitales concomitantes . J Genet Hum 1965;14:133-172. 17. Hittner HM, Kretzer FL, Antoszyk JH, et al: Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations . Am J Ophthalmol 1982;93:57-70. 18. Francois J, Neetens A: Microcornée associée á une hydrophthalmie et á d'autres anomalies héréditaires . Acta Genet Med Gemellol 1955;4:217-229. 19. Mann I: The Development of the Human Eye . New York, Grune & Stratton, 1964, pp 300, 353. 20. Kenyon KR: Mesenchymal dysgenesis in Peters' anomaly, sclerocornea, and congenital endothelial dystrophy . Exp Eye Res 1975;21:125-142.Crossref 21. Kupfer C, Kuwabara T, Stark WJ: The histopathology of Peters' anomaly . Am J Ophthalmol 1975;80:653-660. 22. Bahn CF, Falls HF, Varley GA, et al: Classification of corneal endothelial disorders based on neural crest origin . Ophthalmology 1984;91:558-563.Crossref

Journal

Archives of Ophthalmology – American Medical Association

Published: Apr 1, 1988

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