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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Figure 4

Clinical pictures. In this figure, anterior segment pictures are presented for both right (RE) and left eyes (LE). All eyes shown are pseudophakic, except for family 4 (panel D). A. Both eyes of the father (Family 1, II:1) show corneas with small diameter (10 mm) and normal transparency. An anterior chamber lens implant is observed with iris atrophy and iatrogenic correctopia. The index patient (III:1) underwent a rotational corneal autograft in the RE. Corneal clouding, iridocorneal adhesions and iris atrophy can be seen in the LE. Both eyes of the brother (III:2) show inferior corneal clouding with endothelial haze. B. In both eyes of the index patient (Family 2, III:1) corneal opacities can be observed. C. In the RE of the index patient (Family 3, IV:2) optical iridectomy was performed because of severe central corneal clouding. In the LE corectopia and corneal haze is observed. D. Iridocorneal adhesions and iris hypoplasia are observed in both eyes of the index patient (Family 4, III:1) although more pronounced in the RE. E. In the index patient (Family 5, III:1) and her brother (III:2) microcornea (6 mm) and severe corneal opacities are observed.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172