Iridocorneal endothelial syndrome (ICE syndrome) embraces a group of rare diseases with similar characteristics in the anterior segment, namely Essential iris atrophy, Chandler`s syndrome, and Iris nevus syndrom (Cogan Reese syndrome). The origin and pathogenesis of ICE syndrome remain unkown, but it appears that it is an abnormality of the corneal endothelial cells that is fundamental to all three conditions and leads to characteristic changes in the cornea, iris, and angle. Finding by specular microscopy of abnormal cells on the posterior corneal surface has led to the speculation of possible pathogenensis of this condition. We have experienced two patients with Iris nevus syndrome. Both cases presented with glaucoma as the chief clinical problem, and they illustrated difficult challenges in the glaucoma managemant in this disorder.
Atrophy ; Cornea ; Endothelial Cells ; Glaucoma ; Humans ; Ice ; Iridocorneal Endothelial Syndrome* ; Iris* ; Microscopy ; Nevus* ; Rare Diseases

When aniridia is associated with aphakia after trauma, traditional implantation of posterior chamber IOL has some technical difficulties owing to lack of iris support and weakness of zonule, but especially big problem lies in that it cannot satisfy improvement of symptoms such as photo phobia, epiphora and visual acuity simultaneously. For the purpose of correcting these two diseases, specially designed artificial lens (Black-Diaphragm IO-LMORCHER IOL) has been introduced and is being used currently. Black-Diaphragm IOL may have some postoperative complications such as persistent intraocular inflammation, corneal endothelial cell damage, cystoid niacular ederna, and increased intraocular pressure. On 6 patients (4 rnales, 2 females) who had aniridia associated with aphakia after trauma authors implanted Black-Diaphragm IOL into ciliary sulcus by transscleral fixation. During average of 7.3 months follow up periods, we observed corneal ederna, hyphema, vitreous hernorrhage in I eye (I case) but, in the remaining 5 eye.
Aniridia* ; Aphakia* ; Corneal Endothelial Cell Loss ; Follow-Up Studies ; Humans ; Hyphema ; Inflammation ; Intraocular Pressure ; Iris ; Lacrimal Apparatus Diseases ; Lenses, Intraocular* ; Phobic Disorders ; Postoperative Complications ; Visual Acuity

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

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

Adolescent ; Cysts ; surgery ; Humans ; Iris Diseases ; surgery ; Keratoplasty, Penetrating ; Male

Von Recklinghausen's disease is an autosomal dominant hereditary disease associated with characteristic cafeau-lait spots of skin and multiple neurofibromatosis. It is complicated by malignancies, which in most cases is neurofibrosarcoma. The development of lung cancer in von Recklinghausen's disease is rare. A 61-year-old male was admitted for cough and sputum for 20 days. He had multiple cafe-au-lait spots and subcutaneous neurofibromas in whole body area and Lisch nodules in both iris and he had been diagnosed von Recklinghausen s disease 35 years ago. Chest radiography showed emphysematous buliae in both upper lung field and mass in right upper lung field. Chest CT scan revealed subcarinal lymph node enlargement. Bronchoscopic biopsy was done in mass in superior segment of right lower lobe and the results showed squamous cell carcinoma. The presence of von Recklinghausen's disease and lung cancer are noteworthy.
Biopsy ; Cafe-au-Lait Spots ; Carcinoma, Squamous Cell ; Cough ; Genetic Diseases, Inborn ; Humans ; Iris ; Lung Neoplasms* ; Lung* ; Lymph Nodes ; Male ; Middle Aged ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1* ; Neurofibrosarcoma ; Radiography ; Skin ; Sputum ; Thorax ; Tomography, X-Ray Computed

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*

I experienced 2 cases of accessory iris membrane which had been known to be rare disease, and reviewed them in the literatures. Case 1 was 12 year old female and her visual acuity was 0.3(NC) in left eye and 0.5(NC) in right eye. Both eyes were accompanied with true polycoria and the removal of accessory iris membrane was performed because of poor visual acuity. Postoperatively, pupils became round and visual acuity was increased to 0.8 in both eyes. Case 2 was 14 year old female with pseudopolycoria, but operation was not performed due to relatively good visual acuity, i.e. right eye, 0.2(1.2 X Sph. -2.5D) and left eye, 0.1(1.2 X Sph. -3.0D).
Adolescent ; Child ; Female ; Humans ; Iris* ; Membranes* ; Pupil ; Rare Diseases ; Visual Acuity

In the paper, iridology and computer-aided iridiagnosis technologies are briefly introduced and the extraction method of the collarette contour is then investigated. The iris map can be overlapped on the original iris image based on collarette contour extraction. The research on collarette contour extraction and iris map overlap is of great importance to computer-aided iridiagnosis technologies.
Diagnosis, Computer-Assisted ; methods ; Humans ; Image Processing, Computer-Assisted ; methods ; Iris Diseases ; diagnosis ; Software

BACKGROUNDFor some high myopic patients with posterior iris bowing, laser periphery iridectomy should be performed pre-operation to prevent pupil block glaucoma if these patients would have phakic intraocular lens implantation to correct high myopia. So we had the opportunity to analysis the influence of laser iridectomy on posterior iris bowing.

METHODSEighteen high myopic patients with posterior iris bowing (11 males and 7 females) were involved in the study in Beijing Tongren Eye Center from March 2008 to July 2008. Phakic intraocular lens were implanted to correct their ametropia. The mean age was (32 ± 6) years (range, 25 - 40 years). The center anterior chamber depth, the pupil diameter, the posterior iris bowing depth and the anterior chamber angle were measured with anterior segment coherence tomography (AS-OCT) under the normal condition, myosis condition induced by 2% pilocarpine, laser periphery iridectomy after myosis, and 2% pilocarpine eluting condition respectively.

RESULTSThere was no significant difference of center anterior chamber depth under the four conditions (P = 0.512). The pupil constricted after pilocarpine (P = 0.001). After laser iridectomy performed and pilocarpine eluted, posterior iris bowing depth reduced more than that in normal condition (P = 0.003). The anterior chamber angle reduced significantly after laser periphery iridectomy and pilocarpine eluted (P = 0.012).

CONCLUSIONLaser periphery iridectomy can reduce the posterior iris bowing, which might be due to the change in aqueous circulate pathway.

Adult ; Female ; Humans ; Iridectomy ; methods ; Iris Diseases ; surgery ; Male ; Myopia ; surgery