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At least 19 recordsLinked to original sources
PubMed1975

Wilms' tumor in seven children with congenital aniridia.

This report reviews our experience with 26 infants and children who demonstrate the syndrome of congenital aniridia. Twenty patients exhibited congenital sporadic aniridia, and unilateral Wilms' tumor has developed in seven of them. Six of the total of 26 patients had familial aniridia and none has shown evidence of the development of a Wilms' tumor or any other malignant tumor to date. Fraumeni studied 15 patients with congenital sporadic aniridia. Five developed Wilms' tumors. In the combined series of 35 patients with congenital sporadic aniridia, 12 patients have developed Wilms' tumor for an incidence of 34%. A brief review of our experience and a suggested protocol for the evaluation of patients with congenital aniridia is presented.

Abnormalities, Multiple↗
PubMed2026

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.

IMPORTANCE: Approximately 5% to 10% of individuals with classic aniridia do not receive a molecular diagnosis after clinical testing for variants in PAX6 and its downstream regulatory region. OBJECTIVE: To apply optical genome mapping (OGM) and long-read whole-genome sequencing (lrWGS) to diagnose an individual with unexplained classic aniridia. DESIGN, SETTING, AND PARTICIPANTS: High-quality DNA was extracted from the blood of a 16-year-old male patient with classic aniridia and prior negative clinical test results that included sequencing and copy number analysis of PAX6 exons and downstream regulatory region as well as genomic analysis via short-read whole-genome sequencing (srWGS) and analyzed using OGM and lrWGS. All analyses were performed in a research laboratory in Wisconsin from January 2019 to September 2025. INTERVENTIONS: OGM and lrWGS. MAIN OUTCOMES AND MEASURES: Identification of a structural variant disrupting PAX6 expression in an individual with classic aniridia, following negative prior testing including srWGS. RESULTS: OGM identified a 55-kb deletion on 11p13 encompassing all PAX6 exons and exon 12 of ELP4, with insertion of this segment into 11q21. lrWGS delineated the exact breakpoints, confirming that the downstream regulatory region, required for normal PAX6 expression, remained at the 11p13 locus. Consequently, the translocated copy of PAX6 at 11q21 is expected to lack expression due to the loss of its essential regulatory elements. CONCLUSIONS AND RELEVANCE: These findings in an individual with classic aniridia harboring an intrachromosomal rearrangement at the PAX6 locus identified by OGM and lrWGS may represent the smallest reported structural variant to separate the PAX6 coding sequence from its downstream regulatory region. This structural variant may have fallen below the detection threshold of srWGS due to its balanced nature and small size, suggesting OGM and lrWGS would be needed for definitive identification.

Aniridia↗
PubMed1979

Aniridia caused by a heritable chromosome 11 deletion.

A child with aniridia, multiple anomalies, severe failure to thrive, and severe psychomotor retardation is shown to have a syndrome similar to, though more severe than, other patients with overlapping deletions of the short arm of chromosome 11 (Pediatrics 64:604, 1978). Her deletion (46,XX,del [11p] [pter yields p14::p11.3 yields qter]) was derived from her mother, who has a chromosome 11 shift (46,XX,der [11] [pter yields p14::p11.3 yields q22::p14 yields p11.3::q22 yields qter]). The significance of del (11p) in the aniridia-Wilms' tumor association is discussed, and the del (11p) basis for aniridia is compared with other genetic bases for aniridia.

Abnormalities, Multiple↗
PubMed1979

Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.

A 7-year-old boy with aniridia, Wilms' tumor, and mental retardation, previously reported as having an interstitial deletion of the short arm of chromosome 8 resulting from a t(8p+;11q-) translocation (Ladda et al., 1974), has been restudied using high-resolution trypsin-Giemsa banding of prometaphase chromsomes. The results revealed a complex rearrangement with four break points in 8p, 11p, and 11q, leading to a net loss of an interstitial segment of 11p (region p1407 yields p1304) but not of 8p. His red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogeanse A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings. The revised interpretation of this case agrees with seven others reported as having aniridia and interstitial 11p deletions in establishing the distal half of band 11p13 as the site of gene(s) which lead to aniridia and predispose to Wilms' tumor if present in a hemizygous state. Possible relationships between heterozygous deletion of specific chromosomal bands 11p13 and 13q14 and the autosomal dominant disorders aniridia, Wilms' tumor, and retinoblastoma, respectively, are discussed.

Abnormalities, Multiple↗
PubMed1975

A familial syndrome of aniridia and absence of the patella.

This is the first report of a syndrome of aniridia and aplasia of the patella. The origin of the defect arises spontaneously in the grandmother of the proband and must be assumed to be a de novo mutation. There is no associated chromosomal abnormality or overt biochemical or other somatic defect. This is an extremely rare mutation exhibiting a dominant autosomal form of inheritance. The gene for aniridia is a dominant gene whose penetrance here is 100%. The combination of aniridia and bone malformations in general is very rare. This linked defect probably represents one of the most rare of human genetic abnormalities. The penetrance of the combined abnormality seems to follow that of the more well-known aniridia gene.

Abnormalities, Multiple↗
PubMed1978

Persistent pupillary membrane associated with aniridia.

Familial aniridia is an autosomal dominant condition in which only a small iris remnant is present. A controversy exists as to whether the pathogenetic, embryologic origin of this condition is neuroectodermal or mesodermal. We examined a male infant with bilateral congenital aniridia associated with persistent pupillary membranes. This child had a prominent arcade of vessels extending onto the anterior lens surface for 360 degrees from small iris remnants in both eyes. The presence of a mesodermal pupillary membrane despite absence of the iris suggested a primary neuroectodermal defect as the pathogenetic factor in this case of aniridia.

Adult↗
PubMed1978

Aniridia, cataracts, and Wilms' tumor in monozygous twins.

We studied the first instance of aniridia-Wilms' tumor syndrome in twins who were mentally retarded. Both of them had congenital aniridia, cataracts, and glaucoma; only one subsequently developed a Wilms' tumor. A two-allele, two-step mutation is the most likely explanation of this genetically abnormal syndrome in twins. The aniridia-Wilms' tumor syndrome in twins further documents the relationship of teratogenic malformations and neoplasias.

Adolescent↗
PubMed1975

Aniridia and congenital ptosis.

Congential ptosis associated with aniridia was found in 3 patients from 2 pedigrees. Nonsurgical aphakia, a condition not previously reported in association with aniridia, was also found in one case. The association of aniridia and congenital ptosis is suggested as evidence for the common mesodermal etiology of both anomalies.

Adult↗
PubMed1978

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three unrelated patients with previously unreported chromosome 11 short arm interstitial deletions. A Wilms' tumor in one patient establishes one cause for the aniridia-Wilms' tumor association. The genetic heterogeneity of aniridia, the AGR triad, and Wilms' tumor are demonstrated, and Wilms' tumor is indicated to be a neoplastic birth defect which can result from a variety of embryologic insults, some of which may be chromosomal or heritable.

Adolescent↗
PubMed1979

The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor.

Wilms' tumor was diagnosed in two children each of whom has an identical twin. In one of the pairs of twins the aniridia syndrome with psychomotor retardation was present in both children, but Wilms' tumor was found in only one. In the other twins hemihypertrophy as well as Wilms' tumor were identified in one child, whereas neither of these abnormalities was present in her twin sister. These findings lend support to a hypothesis that the development of Wilms' tumor requires the occurrence of two successive mutational events, one of which may be a germinal mutation. The presence of aniridia, hemihypertrophy, or other associated congenital abnormalities may aid in distinguishing between hereditary and sporadic forms of Wilms' tumor.

Abnormalities, Multiple↗
PubMed1977

Familial aniridia with preserved ocular function.

Of 76 members of a large pedigree with familial aniridia, 61% of the 38 affected patients had visual acuity of 6/9 (20/30) or better and only 5% had acuity of 6/60 (20/200) or worse. Cataracts were present in 18% of affected patients; glaucoma in 13%; and strabismus in 34%. Sixteen percent of affected patients had strabismic amblyopia. No patient had nystagmus or corneal pannus. The good visual acuity in this family, as compared to that in others, indicates that the absence of iris tissue alone cannot account for the severe visual problems usually associated with aniridia.

Adolescent↗
PubMed1977

Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

A case of bilateral aniridia, cataract and mental deficiency is described in a girl with an interstitial deletion of the short arm of chromosome 11. The child died of pneumonia and on autopsy bilateral gonadoblastoma was detected, but no Wilms' tumour. Partial deletion of the short arm of chromosome 11 seems to be a clinically recognizable syndrome with aniridia, cataract and renal, gonadal or genital dysmorphogenesis.

Cataract↗
PubMedDate not supplied

[Association of aniridia and Wilms' tumor. Report of two cases (author's transl)].

Authors report two new cases of association of Wilms' tumor and congenital aniridia and a review of the literature is made. Attention is called to the frequency of this association and the importance of close observation of patients with congenital aniridia in order to ensure early diagnosis of Wilms' tumor.

Abnormalities, Multiple↗
PubMed1979

Corneal changes in aniridia.

Nineteen patients with aniridia and one patient with bilateral iris colobomata from eight families were examined for corneal abnormalities. Thirty-six eyes revealed changes that are consistent with a progressive corneal dystrophy. These changes begin in the corneal periphery in the early years of life and progress to the corneal center with increasing age. This dystrophy has been staged into four typical clinical patterns. Central corneal scarring, and in some cases, ulceration may occur, which may be a significant threat to vision.

Adolescent↗
PubMed1978

Aniridia associated with microcornea and subluxated lenses.

Four cases of aniridia associated with subluxated lenses and microcornea are presented. The triad occurred in both eyes of the 4 affected members in one Ndebele family (one of the South African Negro tribes). No other ocular or systemic defects were noted, and intelligence was normal. Chromosomal studies on both parents showed no abnormality, and gene marker studies failed to reveal any linkage between the disease locus and a wide range of polymorphic loci.

Adolescent↗
PubMed1977

Aniridia-Wilms' tumour syndrome.

The association of aniridia and Wilms' tumour constitutes a real syndrome, which is genetic. It may either be autosomal dominant or depend on a chromosomal deletion or also, according to Knudson's theory, be due to two mutational events, the initiating mutation being germinal and the promoting mutation being post-zygotical.

Child, Preschool↗