Full Text
The Full Text of this article is available as a PDF (232.2 KB).
Figure 1 .
(A) PCR-SSCP analysis of exon 11 reveals a band shift in patients I-1, II-1, II-2, and II-3. (B) Sequencing of the normal and mutant alleles of I-1 identifies a single base deletion at nucleotide 1434 that causes a translational frameshift in the proline, serine, and threonine (PST) domain. Other affected members had the same mutation.
Figure 2 .
Photograph of anterior segment of case I-1 (A, right eye; B, left eye) with corneal pannus, absent iris, dense cataract; case II-1 (C, right eye; D, left eye) with corneal pannus and iris thinning; case II-2 (E, right eye; F, left eye) with corneal pannus, partially absent iris; and case II-3 (G, right eye; H, left eye) with corneal pannus, partially absent iris, and suture cataract.