Abstract
Two different hereditary forms of congenital cornea plana are described: an autosomal dominant form with relatively mild symptoms, and an autosomal recessive form (CPCR) with more severe symptoms, such as decreased visual acuity, extreme hyperopia (total refraction usually 10 D or more), hazy limbus corneae, more or less pronounced opacities in the corneal parenchyma, and marked arcus senilis, often detectable at an early age.As far as can be judged from the number of cases hitherto published, cornea plana is a rare disease. In Finland, 49 caw of the recessive and seven of the dominant form of cornea plana congenita have been discovered to date, which is about twice the number of cases of recessively inherited cornea plana reported elsewhere in the world. In Finnish Lapland, the gene frequency of cornea plana congenita recessiva is estimated to be 1.3 % (about 16 patients per 100,000 inhabitants), or about four times as high as in Finland as a whole. Around the lower reaches of the River Kemijoki there is a relatively high prevalence of the recessive form of the disease. The Kemijoki pedigree includes 25 patients related to each other through their ancestors.
References
15
Referenced
28
10.1016/S0002-9394(36)91211-4
{'key': 'e_1_2_1_3_1', 'first-page': '133', 'article-title': "Les différents types de sclérocornée, leurs modes d'hérédité et les malformations congénitales concomitants", 'volume': '15', 'author': 'Bloch N.', 'year': '1965', 'journal-title': 'J. Génét. Hum.'}
/ J. Génét. Hum. / Les différents types de sclérocornée, leurs modes d'hérédité et les malformations congénitales concomitants by Bloch N. (1965){'key': 'e_1_2_1_4_1', 'first-page': '710', 'article-title': 'Kongenitale familiäre Cornea plana', 'volume': '74', 'author': 'Felix C. H.', 'year': '1925', 'journal-title': 'Klin. Mbl. Augenheilk'}
/ Klin. Mbl. Augenheilk / Kongenitale familiäre Cornea plana by Felix C. H. (1925)10.1111/j.1755-3768.1961.tb00255.x
{'key': 'e_1_2_1_6_1', 'first-page': '52', 'article-title': 'Cornea plana congenita', 'volume': '88', 'author': 'Forsius H.', 'year': '1972', 'journal-title': 'Duodecim'}
/ Duodecim / Cornea plana congenita by Forsius H. (1972)10.1111/j.1755-3768.1963.tb03577.x
{'key': 'e_1_2_1_8_1', 'first-page': '230', 'article-title': 'Cornea plana congenita in 12 Families in Finland', 'volume': '12', 'author': 'Forsius H.', 'year': '1962', 'journal-title': 'Acta genet. (Basel)'}
/ Acta genet. (Basel) / Cornea plana congenita in 12 Families in Finland by Forsius H. (1962)10.1111/j.1755-3768.1963.tb03599.x
{'key': 'e_1_2_1_10_1', 'first-page': '29', 'article-title': 'Coloboma of the iris and of the uvea. Genetics in Ophthalmology. Congress in Brno 1965', 'volume': '25', 'author': 'François J.', 'year': '1965', 'journal-title': 'Acta Fac. med. Brun.'}
/ Acta Fac. med. Brun. / Coloboma of the iris and of the uvea. Genetics in Ophthalmology. Congress in Brno 1965 by François J. (1965){'key': 'e_1_2_1_11_1', 'first-page': '247', 'article-title': 'Ueber eigenartige Veränderungen des vorderen Augenabschnittes bei Mutter und Tochter (Cornea plana, blaue Sklera und Bindehautxerose', 'volume': '111', 'author': 'Gasteiger H.', 'year': '1945', 'journal-title': 'Klin. Mbl. Augenheilk.'}
/ Klin. Mbl. Augenheilk. / Ueber eigenartige Veränderungen des vorderen Augenabschnittes bei Mutter und Tochter (Cornea plana, blaue Sklera und Bindehautxerose by Gasteiger H. (1945){'key': 'e_1_2_1_12_1', 'first-page': '145', 'article-title': "A case of Peters' syndrome with spontaneous corneal perforation", 'volume': '6', 'author': 'Krause U.', 'year': '1969', 'journal-title': 'J. pediat, Ophthal'}
/ J. pediat, Ophthal / A case of Peters' syndrome with spontaneous corneal perforation by Krause U. (1969)10.1111/j.1755-3768.1949.tb05835.x
{'key': 'e_1_2_1_14_1', 'first-page': '1', 'volume-title': 'Neuropsychiatric and genetic aspects of the dystrophia retinae pig‐mentosa‐dysacusis syndrome', 'author': 'Nuutila A.', 'year': '1968'}
/ Neuropsychiatric and genetic aspects of the dystrophia retinae pig‐mentosa‐dysacusis syndrome by Nuutila A. (1968){'key': 'e_1_2_1_15_1', 'first-page': '27', 'article-title': 'Ueber angeborene Defect‐bildung der Descemetschen Membran', 'volume': '44', 'author': 'Peters A.', 'year': '1906', 'journal-title': 'Klin, Mbl. Augenheilk'}
/ Klin, Mbl. Augenheilk / Ueber angeborene Defect‐bildung der Descemetschen Membran by Peters A. (1906){'key': 'e_1_2_1_16_1', 'first-page': '169', 'article-title': 'Hornhautrefraktion und Hornhautscheibengrösse', 'volume': '85', 'author': 'Waardenburg P. J.', 'year': '1930', 'journal-title': 'Klin. Mbl. Augenheilk'}
/ Klin. Mbl. Augenheilk / Hornhautrefraktion und Hornhautscheibengrösse by Waardenburg P. J. (1930)
Dates
Type | When |
---|---|
Created | 15 years, 1 month ago (July 18, 2010, 5:14 p.m.) |
Deposited | 1 year, 9 months ago (Nov. 10, 2023, 6:51 p.m.) |
Indexed | 1 month, 1 week ago (July 25, 2025, 6:02 a.m.) |
Issued | 52 years, 2 months ago (July 1, 1973) |
Published | 52 years, 2 months ago (July 1, 1973) |
Published Online | 17 years, 4 months ago (April 23, 2008) |
Published Print | 52 years, 2 months ago (July 1, 1973) |
@article{Eriksson_1973, title={Congenital cornea plana in Finland}, volume={4}, ISSN={1399-0004}, url={http://dx.doi.org/10.1111/j.1399-0004.1973.tb01924.x}, DOI={10.1111/j.1399-0004.1973.tb01924.x}, number={4}, journal={Clinical Genetics}, publisher={Wiley}, author={Eriksson, A. W. and Lehmann, W. and Forsius, H.}, year={1973}, month=jul, pages={301–310} }