1. Phenotypic variability of PAX6 mutations and phenotypic overlap with mutations at other loci. A, Virtual absence of iris in classical aniridia. The red reflex from the retina is seen in this undilated eye. (From S. Day: Developmental abnormalities of the anterior segment. 23, Fig , in Taylor D (ed): Pediatric Ophthalmology, 2nd ed., Boston, Blackwell Scientific Used with permission.) The mutation has not been defined in this individual. B, The same patient 6 years later, with subluxation of the lens, presence of cataract and glaucoma, illustrating the progressive nature of this developmental eye anomaly. (From S. Day: Developmental abnormalities of the anterior segment. 23, Fig , in Taylor D (ed): Pediatric Ophthalmology, 2nd ed., Boston, Blackwell Scientific Used with permission.) C, Gonioscopic view of Peters anomaly case with R26G PAX6 mutation.199 The lens corneal adhesion is seen with posterior embryotoxon. (From Holmstrom et al.200 Used with permission.) D, Autosomal dominant keratitis with intron 10 splice-acceptor site mutation −2 AT. (From Mirzayans et al.201 Used with permission.) E, Corectopia and iris hypoplasia with absent collarette, mild corneal limbal dystrophy, and hypoplasia of the optic nerve and macula in patient with V126D PAX6 paired-box mutation. (From Hanson et al.202 Used with permission.) F, Isolated foveal hypoplasia in case with R128C PAX6 paired-box mutation. (From Azuma et al.203 Used with permission.) G, Normal right fundus showing the darker fovea with no blood vessels encroaching on it. (From Azuma et al.203 Used with permission.) H, Apparently normal iris of case with foveal hypoplasia (G). (From Azuma et al.203 Used with permission.) I, Uveal ectropion, invasion of the cornea by conjunctival epithelium, posterior embryotoxon in case with missense mutation Q422R in the most C-terminal amino acid of PAX6. (From Azuma and Yamada.204 Used with permission.) J, Facial features of the PAX6 compound heterozygous neonate carrying two different PAX6 mutations with anophthalmia, fused eyelids, choanal atresia, and microcephaly. The infant died at day 8 postpartum. (From Glaser et al.188 Used with permission.) K, The severe brain malformations in compound heterozygote neonate (shown in J), were revealed at autopsy. (From Glaser et al.188 Used with permission.) L, Member of autosomal dominant Axenfeld-Rieger anomaly family205 with S82T FKHL7 mutation.206 Marked iris stromal hypoplasia and corectopia are accompanied by prominent displacement of the Schwalbe line (the white line) detached from the cornea and crossing the anterior chamber. (From Gould et al.205 Used with permission.) M, Slit-lamp photograph of hypoplastic iris revealing the pupillary sphincter muscle and distorted iris (corectopia) in a familial Rieger syndrome case with W133X PITX2 mutation. Posterior embryotoxon and an anteriorly displaced Schwalbe line are also seen. Affected individuals also have tooth anomalies and failure of normal umbilical skin involution. (From Semina et al.207 Used with permission.) N, Iris stroma hypoplasia and distinct pupillary sphincter muscle in a case of familial iridogoniodysgenesis syndrome (IGDS) with an R70H mutation in the homeobox domain of PITX2. (From Kulak et al.208 Used with permission.) O, Member of anterior segment mesenchymal dysgenesis (ASMD) family209 with a 17-bp insertion into the PITX3 gene, leading to premature protein truncation showing central corneal leucoma with iris adhesion and cataract. (From Semina et al.140 Used with permission.) P, Member of ASMD family in N: dense cataractous lens overshadows a translucent central corneal leucoma. (From Semina et al.140 Used with permission.) Q, Member of ASMD family in N: dense cataractous lens overshadows a dense peripheral corneal leucoma with an iris adhesion. (From Semina et al.140 Used with permission.) R, Member of ASMD family in N: small corneal and lens opacities might escape detection without the family history and slit-lamp observation. (From Semina et al.140 Used with permission.)
Source: Transcription Factors in Eye Disease and Ocular Development, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: September 30, 2017
Copyright © 2017 McGraw-Hill Education. All rights reserved