Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.
Aniridia* ; Codon, Nonsense ; Family Characteristics ; Genes, Essential ; Humans ; Iris ; WAGR Syndrome ; Wilms Tumor

Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms' tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had deletion of chromosome 11p11.2-13. Bilateral Wilms' tumors were successfully treated by chemotherapy and surgery. She has been tumor-free for 19 months off chemotherapy with preserved renal function.
Aniridia ; Humans ; Intellectual Disability ; Korea ; Parturition ; Preschool Child ; WAGR Syndrome ; Wilms Tumor

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.
Aniridia ; Comparative Genomic Hybridization ; Cytogenetics ; Drug Therapy ; Gene Deletion ; Humans ; Intellectual Disability ; Ultrasonography ; Urogenital Abnormalities ; WAGR Syndrome* ; Wilms Tumor*

The author experienced a case of Aniridia in both eyes with increased intra-ouclar pressure. She was 3 month old and had no other congenital abnormalities and significant family history. Intra-ouclar pressure of her both eyes has been controlled within normal limits since goniopuncture was performed.
Aniridia* ; Congenital Abnormalities ; Humans ; Infant

The author experienced a case of Aniridia in both eyes with increased intra-ouclar pressure. She was 3 month old and had no other congenital abnormalities and significant family history. Intra-ouclar pressure of her both eyes has been controlled within normal limits since goniopuncture was performed.
Aniridia* ; Congenital Abnormalities ; Humans ; Infant

Most patients with Wilms tumor do not have associated congenital anomalies. However, significant associations with congenital urinary tract defects, hemihypertrophy, and sporadic aniridia have been reported. Horseshoe kidney is a congenital anomaly in which both kidneys are fused at the lower poles with renal parenchymal or fibrous isthmus. The risk of malignancy in a horseshoe kidney is probably not different from that in a normal kidney. But Wilms tumor are more common in patients with horseshoe kidney than in the general population. We report a case of Wilms tumor arising in a horseshoe kidney with brief review of related literatures.
Aniridia ; Humans ; Kidney* ; Urinary Tract ; Wilms Tumor*

The author have experienced a case of aniridia in a 44 year-old man. Aniridia is an uncommon congenital anomaly, is almost bilateral cmd appears as a dominant characteristic. Coincident anomalies are the rule, affectory especially the cornea and the lens. Chronic glaucoma is due to anatomical defect, with a reduction in the available filtration angle. It is noticeable, that very few patients with aniridia have retained good vision through a reasonably long life.
Adult ; Aniridia* ; Cornea ; Filtration ; Glaucoma ; Humans

We implanted aniridia intraocular lenses (aniridia IOL) on three cases with complaint of glare caused by traumatic or congenital aniridias combined with cataract or aphakia. Aniridia IOLs were fixed by scleral fixation on one aphakia with traumatic aniridia, and at the ciliary sulcus on one aphakia with traumatic aniridia and one congenital aniridia with cataract. After follow-up of at least 2 months, visual improvement, absence of glare and cosmetic acceptance was observed without any complication in all cases.
Aniridia* ; Aphakia ; Cataract ; Follow-Up Studies ; Glare ; Lenses, Intraocular*

Complicated microphthalmos can be diagnosed when a reduction in global dimension is combined with other structural anomalies. These include corneal opacity or staphyloma, cataract, aniridia, corectopia, persistence of pupillary membrane or the tunica vasculosa lentis and hyaloid vessel, thickening or ossification of the choroid and various retinal anomalies. Complicated microphthalmos is frequently hereditary and the transmission may be either as an autosomal dominant or recessive or as a sex linked recessive trait. Four cases of bilateral complicated microphthalmos with cataract were found in a family.
Aniridia ; Cataract ; Choroid ; Corneal Opacity ; Humans ; Membranes ; Microphthalmos* ; Retinaldehyde

No abstract available.
Aniridia ; Cerebellar Ataxia ; Esophageal Motility Disorders* ; Intellectual Disability