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Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue
Author(s) -
Greenfield G.,
Romano A.,
Stein R.,
Goodman R. M.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01115.x
Subject(s) - keratoconus , connective tissue disorder , heredity , medicine , connective tissue , biology , phenotype , pathology , anatomy , genetics , ophthalmology , cornea , gene
A syndrome of keratoconus, blue sclerae, middle ear bony conduction defect and spondylolisthesis occurring in a brother and sister born to consanguineous parents is described. Eleven similar cases reported in the literature are reviewed. The narrow range of phenotypic expression and the clcar pattern of heredity suggest that this is a distinct autosomal recessive disorder of connectivc tissue. It is postulated that the basic defect in this syndrome involves an alteration in the biosyntheis of collagen.