WAGR syndrome is a rare congenital disorder, occurring in approximately 1 in 500,000 to 1,000,000 individuals, often presenting with ocular malformations such as aniridia. Glaucoma frequently develops when the iris and angle structures are affected, posing a significant risk of vision loss. We report a one-year and seven-month-old patient who presented with corneal opacity of the left eye. Examination revealed corneal opacity, aniridia, and markedly elevated intraocular pressure of 65 mmHg, while the fellow eye, also with aniridia, was normotensive. The patient underwent immediate combined trabeculectomy-trabeculotomy. Postoperative follow-up and timely management of complications allowed acceptable pressure control over one year, though visual prognosis remained guarded. This case highlights the challenges of managing glaucoma in WAGR syndrome, particularly in resource-limited settings. Medical therapy alone is often insufficient, making surgical intervention essential. Combined trabeculectomytrabeculotomy proved effective in maintaining pressure control when glaucoma drainage devices were not feasible. Multiple interventions and close monitoring are frequently required due to the risk of scarring and postoperative complications. Our experience emphasizes the need for a multidisciplinary ophthalmology approach to optimize outcomes. Despite pressure control, visual outcomes often remain poor due to structural anomalies and the challenges inherent to pediatric patients with this rare syndrome.

Human ; World Health Organization ; Wagr Syndrome ; Trabeculectomy ; Resource-limited Settings ; Postoperative Complications ; Patients ; Intraocular Pressure

Chromosome Deletion ; Humans ; Kidney Neoplasms ; WAGR Syndrome/genetics* ; Wilms Tumor

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.
Alopecia ; Aniridia ; Chromosome Aberrations ; Coccyx ; Cytogenetic Analysis ; Extremities ; Female ; Humans ; Hypopigmentation ; Infant ; Karyotype ; Mosaicism ; Neurocutaneous Syndromes ; Pigmentation Disorders ; Scalp ; Syndactyly ; Tooth

OBJECTIVE: To identify mutation of the PAX6 gene in a patient with congenital aniridia. METHODS: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing. RESULTS: The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls. CONCLUSION A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.
Aniridia ; genetics ; Base Sequence ; Humans ; Mutation ; PAX6 Transcription Factor ; genetics ; Pedigree

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*

PURPOSE: We report a rare case of isolated traumatic aniridia in a pseudophakic eye. CASE SUMMARY: A 69-year-old female came to our emergency department complaining of right eye pain and visual disturbance after trauma due to fall on the stairs. Five years earlier she had undergone an uncomplicated right sutureless phacoemulsification cataract extraction through a 2.2 mm temporal clear corneal incision, followed by insertion of a folding intracapsular intraocular lens. Total iris expulsion occurred through the cataract incision without extension of the wound or disruption of the posterior capsule or intraocular lens. CONCLUSIONS: We report a rare case of isolated traumatic aniridia in a pseudophakic eye, which has not been reported in the Republic of Korea.
Aged ; Aniridia ; Cataract ; Cataract Extraction ; Emergency Service, Hospital ; Eye Pain ; Female ; Humans ; Iris ; Lenses, Intraocular ; Phacoemulsification ; Republic of Korea ; Wounds and Injuries

OBJECTIVETo investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.

METHODSBlood samples were drawn from family members, and DNA was analyzed by direct sequencing.

RESULTSA heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.

CONCLUSIONA novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.

Aniridia ; genetics ; Eye Proteins ; genetics ; Female ; Homeodomain Proteins ; genetics ; Humans ; Male ; Mutation ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; genetics ; Repressor Proteins ; genetics

OBJECTIVETo identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China.

METHODSTwo patients were collected from the family and underwent full ophthalmologic examinations. Genomic DNA was extracted from all family numbers and 100 healthy controls. The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected to bidirectional DNA sequencing.

RESULTSA nonsense mutation (c.718 C>T) was identified in exon 9 in both patients but not in other unaffected families or the 100 healthy controls. However, obvious difference was noted in the phenotype between the two patients. One of the patient has presented irregular cornea, which was infrequently reported.

CONCLUSIONA c.718C>T transitional mutation has been found to underlie the aniridia, which showed an autosomal dominant inheritance pattern in this northeastern Chinese family.

Aniridia ; genetics ; Eye Proteins ; genetics ; Female ; Homeodomain Proteins ; genetics ; Humans ; Male ; Mutation ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; genetics ; Repressor Proteins ; genetics

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

PURPOSE: To introduce clinical features and molecular characteristics of Korean patients with congenital aniridia. METHODS: Patients with iris hypoplasia were diagnosed clinically as congenital aniridia and were included in the study. Best corrected visual acuity (BCVA) and associated ocular abnormalities (including severity of iris hypoplasia, nystagmus, keratopathy, and foveal hypoplasia), and findings in optical coherence tomography were analyzed. PAX6 analysis,multiplex ligation-dependent probe amplification (MLPA), genomic molecular karyotyping, and candidate gene sequencing were performed to detect genetic abnormalities. RESULTS: 28 patients from 18 families were included in the study. BCVA varied from hand motion to 20/25. No manifest nystagmus was found in 3 patients, but the rest of the patients had pendular horizontal nystagmus. Keratopathy was found in 23 patients, cataracts in 12 patients, and glaucoma in 4 patients. All patients had foveal hypoplasia, including one case with a subtle phenotype. The PAX6 mutation was detected in 13 families out of 18;2 (p.Trp162Leufs*38,p.Gly409Arg) were novel,3 families had the miss ensemutation, and 3 families had alargedeletion in the PAX6 gene. CONCLUSIONS: This study adds 2 novel PAX6 mutations related to congenital aniridia to those previously reported. Congenital aniridia is a serious, sight-threatening ocular malformation, but central vision and the degree of iris hypoplasia were highly variable. The PAX6 mutation was detected in 72% of the patients in this study, and there were no specific clinical features differentiating aniridia with and without PAX6 mutations.
Aniridia* ; Cataract ; Glaucoma ; Hand ; Humans ; Iris ; Karyotyping ; Nystagmus, Pathologic ; Phenotype ; Tomography, Optical Coherence ; Visual Acuity