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Purpose: The purpose of this study is to study the frequency, surgical transplantation technique and outcome in patients with aniridia‐related keratopathy (ARK) with two‐year follow‐up period. Methods: A retrospective registry‐study including all ARK cases performed in Sweden and Denmark between 2001 and 2016 and registered in the Swedish Cornea Transplant Registry. Results: A total of 36 eyes of 26 patients were subjected to corneal transplantation due to ARK during 2001 to 2016. Penetrating keratoplasty (PK) was the procedure of choice in 58.3% (n = 21) of the eyes, followed by a combination of PK and limbal stem cell transplantation in 13.9% (n = 5) and keratolimbal allograft in 13.9% (n = 5). Boston keratoprosthesis was used in 8.3% (n = 3), and anterior lamellar keratoplasty in 5.6% (n = 2). Thirteen of the procedures (36.1%) were retransplantations. Two years after surgery 26 cases were available to follow‐up of which 16 of the grafts were functioning (61.5%). The median visual acuity showed a trend of improvement from hand motion to counting fingers. Conclusions: A majority of the ARK cases (61.5%) had a graft providing useful vision for the patient 2 years after corneal transplantation, but the visual gain was modest at best. Longer follow‐up time is required to evaluate functional graft outcomes. Despite the introduction of limbal stem cell transplantation as a suitable treatment, PK was the most common surgical method in the present study. [ABSTRACT FROM AUTHOR]

Purpose To evaluate the efficacy and complications of black diaphragm intra-ocular ( BDI) lens implantation in patients with congenital aniridia. Methods Twenty patients underwent BDI lens implantation for the treatment of congenital aniridia from January 1999 to December 2012. Fifteen patients (23 eyes) were enrolled in our study, and the mean follow-up period was 26 months. Patient demographics, clinical evaluations [visual acuity ( VA), best-corrected visual acuity ( BCVA), intra-ocular pressure measurement ( IOP), corneal endothelial cell density ( ECD) and ultrasound biomicroscopy ( UBM)], complications and treatments were analysed for each patient. Results Sixteen eyes (70.1%) had a BCVA better than 20/200 after BDI lens implantation, and photophobia obviously decreased in all patients. Six eyes (26.09%) developed secondary glaucoma after BDI lens implantation, and one eye underwent glaucoma surgery. Corneal decompensation occurred in two eyes (8.70%), one of which was complicated by glaucoma. Two eyes (8.70%) developed visual axis opacity ( VAO) after surgery. One patient (4.35%) had limbal stem cell failure, and another patient (4.35%) had an eccentric BDI lens. Intra-ocular pressure measurement elevation and ECD reduction were found after BDI lens implantation. Conclusions Black diaphragm intra-ocular lens implantation can effectively improve VA, decrease photophobia and resolve cosmetic issues in most congenital aniridia eyes. Glaucoma, corneal decompensation and VAO were the major long-term complications of BDI lens implantation in patients with congenital aniridia. All patients should be managed attentively because of high risk of complications and followed long term to achieve favourable outcomes. [ABSTRACT FROM AUTHOR]

Purpose Posttraumatic partial or total iris defects often cause significant debilitating glare, photophobia, decreased vision and cosmetic problems. Currently, the best cosmetic results can be obtained with a customized silicone iris prosthesis. However, little is known about the functional results and the rate of complication if this type of iris prosthesis is implanted into severely traumatized eyes. The aim of this study is to analyse the functional and cosmetic outcomes as well as complications after Artificial Iris implantation. Methods A consecutive series of 34 patients who received a customized silicone iris prosthesis after severe globe injury with total or sub-total iris loss was analysed retrospectively. Additionally, patients were interviewed regarding change in subjective complaints. Results Median follow-up was 24 months (range 12.0-48.8). Mean visual acuity prior to Artificial Iris implantation was 1.1 log MAR (range 0.3-2.6). Five patients (15%) had pre-existing glaucoma and eight patients (24%) had pre-existing hypotony. Visual acuity 12 months after surgery was 1.4 log MAR (range 0.2-2.6). Complications included newly diagnosed glaucoma in three eyes (9%) and hypotony in three eyes (9%), persisting intraocular inflammation or macular oedema in seven patients (21%), and corneal endothelial decompensation requiring corneal transplantation in six patients (18%). Patients' satisfaction increased by reducing glare and enhanced cosmetic appearance. Conclusion The customized silicone iris prosthesis is an individualized treatment approach with appealing cosmetic results. Therefore, especially traumatized eyes with highly different posttraumatic conditions could benefit. However, in some patients, the implantation of this device may cause an increase of intraocular pressure, corneal endothelial decompensation or persisting inflammation. [ABSTRACT FROM AUTHOR]

Purpose To quantify diadenosine polyphosphate levels in tears of congenital aniridia patients to estimate the ocular surface changes associated with congenital aniridia compared to normal individuals. Methods Fifteen patients diagnosed with congenital aniridia and a control group of forty volunteers were studied. Tears were collected to quantify the levels of diadenosine polyphosphates Ap4A and Ap5A by high-performance liquid chromatography (H.P.L.C). Break-up time ( BUT), corneal staining, McMonnies questionnaire and the Schirmer I test were applied to both groups. Results Dinucleotides in congenital aniridia patients were higher than in control subjects. For the congenital aniridia group, under 15 years old, the values were 0.77 ± 0.01 μ m and 0.17 ± 0.02 μ m for Ap4A and Ap5A, respectively. The group aged from 15 to 40 years old provided concentrations of 4.37 ± 0.97 μ m and 0.46 ± 0.05 μ m for Ap4A and Ap5A, the group over 40 gave concentrations of 11.17 ± 5.53 μ m and 0.68 ± 0.17 μ m for Ap4A and Ap5A. Dinucleotide concentrations increased with age, being statistically significant different among the three age groups (p < 0.05). Congenital aniridia patients showed a normal tear secretion and no dry eye McMonnies scores, except for the group over 40 years old. BUT values decreased and corneal staining increased with age and correlated with the levels of diadenosine polyphosphates (p < 0.05). Conclusions The levels of dinucleotides in tears increase in aniridia patients compared with healthy subjects, and they seem to be related with the progression of corneal disorders in aniridia patients, both of which increase with ageing. [ABSTRACT FROM AUTHOR]

Purpose: To investigate whether optical coherence tomography (OCT) is helpful in the diagnosis of foveal hypoplasia in children. Methods: Children with albinism and aniridia were examined with Stratus OCT 3 software 4.0.1 (Carl Zeiss Meditec, Dublin, California, USA). A qualitative examination of the macular area was performed with a 128 A-scans/second-single-scan. Macular thickness was measured quantitatively with an automatic fast macular map protocol. The average thickness/volume of the macula was presented as numerical values and as a false colour code in nine modified early treatment of diabetic retinopathy study (ETDRS) areas (A1–A9). A previously collected control group of children was used for comparison. Results: Macular thickness in 13 children with albinism and three children with aniridia was measured with OCT. Comparison with healthy children in the same population was performed. Patients with albinism and aniridia had significantly thicker central macula (A1) and foveola than children in the control group. Conclusion: OCT was found to be useful in the diagnosis of foveal hypoplasia in children. [ABSTRACT FROM AUTHOR]

Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment. Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20. Fifty-two of them were examined and they constituted the study population. Patient history was obtained and all participants underwent clinical ophthalmologic examination, including photography. Blood samples were taken for mutation analysis. Results: Epidemiological data are only based on the results in Sweden. The age-specific prevalence in Sweden was 1:47 000, male/female ratio was 0.57, mean age 12 years and median age 14 years. The proportion of sporadic cases including WAGR ( ilms tumour, niridia, Genitourinary abnormalities, Mental etardation) and Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) was 48%. In the entire study population (Sweden and Norway), the mean visual acuity (VA) was 0.2 (range 0.04–0.9). We found VA < 0.3 in 80% and <0.1 in 18% of the patients. Twenty-two patients (42%) had one or more of the sight threatening complications such as cataract/lens luxation, corneal clouding or glaucoma. Conclusion: Descriptions of aniridia in the younger are rare. This study shows that aniridia seems to be more common than previously estimated and that some complications appear early in life. Watchfulness as regards these complications and regular examinations are essential even in the youngest. [ABSTRACT FROM AUTHOR]

Aniridia is a rare panocular disorder affecting the cornea, anterior chamber, iris, lens, retina, macula and optic nerve. It occurs because of mutations in PAX6 on band p13 of chromosome 11. It is associated with a number of syndromes, including Wilm’s tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation (WAGR) syndrome. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression. This, in addition to stem-cell deficiency, results in a fragile cornea and aniridia-associated keratopathy (AAK). It also results in abnormalities in the differentiation of the angle, resulting in glaucoma. Glaucoma may also develop as a result of progressive angle closure from synechiae. There is cataract development, and this is associated with a fragile lens capsule. The iris is deficient. The optic nerve and fovea are hypoplastic, and the retina may be prone to detachment. Aniridia is a profibrotic disorder, and as a result many interventions – including penetrating keratoplasty and filtration surgery – fail. The Boston keratoprosthesis may provide a more effective approach in the management of AAK. Guarded filtration surgery appears to be effective in glaucoma. Despite our increasing understanding of the genetics and pathology of this condition, effective treatment remains elusive. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the epidemiology of aniridia in the populations of Sweden and Norway. Methods: A thorough search for aniridia patients has been performed in Sweden and Norway. All participants had a clinical ophthalmological examination documented through photography. Blood samples were taken for mutation analysis and pedigrees were established. Results: A total of 181 patients with aniridia were identified in the two countries. This gives an age-specific prevalence of 1:72 000 in the entire region, 1:70 000 in Sweden and 1:76 000 in Norway. A total of 124 individuals (69%) were examined. Male/female ratio was 0.94 (Sweden 0.85 and Norway 1.2). Mean age of the examined patients was 29 years and median age 25 years. We did not find any significant age difference between the two countries. The mean visual acuity (VA) was 0.19 (Sweden 0.19 and Norway 0.18).The number of families with more than one affected member was 31 and the number of sporadic cases was 40. Conclusion: We have done a thorough search of the literature, but we have found no earlier studies describing aniridia in an entire country and only a few reports from larger areas. We assume that most aniridia patients have been found and the aniridia prevalence of 1:72 000 can be regarded as well supported. Further studies on other aspects of aniridia are in progress, and information from these can contribute to guidelines for the care of patients with this rare but serious disease. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding a study of cataract development, surgery, and phenotypic features of cataract in 26 Norwegian patients with ngenital aniridia.

The PAX6 gene is associated with various congenital ocular defects.Aniridia is typically associated with mutations introducing a premature STOP codon, whereas missense mutations, of which the majority are located in the paired domain, lead to variant phenotypes. The study provides a survey of PAX6 mutations in patients presenting with extraocular features. We performed sequencing of PAX6 exons and boundaries, search for intragenic rearrangements ( QMPSF/ qPCR) and CNV analysis ( aCGH) in 127 index cases. Genotype-phenotype correlations were searched.We identified mutations in 90% of patients. Yet, a high inter- and intra-familial clinical variability, we noted that heterozygous missense mutations (Asn64, Gly65, Cys66) in Paired-Domain medial 3rd helix were associated with severe phenotypes (e.g. anophthalmia, and CNS malformations). Cases bearing compound heterozygous mutations were affected with severe malformations. Consistent with previous studies, mutations introducing a premature stop codon and gene rearrangements made up the majority. Some genotype-phenotype correlations could be drawn. It is necessary to better delineate the expression of PAX6 mutations to provide patients with a prognosis and to set up a tailor-made follow-up. [ABSTRACT FROM AUTHOR]

In the November 2008 issue (AOS 86:7), the article by Ulla Edén et al . was not published correctly in the printed issue. Unfortunately, part of the section ‘Visual acuity’ in the Results was repeated on page 732, and the start of the Discussion was omitted on page 732. The full and correct version of this article is printed hereunder. The Publisher apologises for this error. Reference Purpose: To investigate patients under the age of 20 with aniridia in Sweden and Norway in order to estimate the prevalence of aniridia, to describe clinical signs and identify complications in the young, which will help improve diagnostic tools and treatment. Methods: A thorough search for patients with aniridia (of all ages) was performed. Sixty-two of the 181 patients were under the age of 20. Fifty-two of them were examined and they constituted the study population. Patient history was obtained and all participants underwent clinical ophthalmologic examination, including photography. Blood samples were taken for mutation analysis. Results: Epidemiological data are only based on the results in Sweden. The age-specific prevalence in Sweden was 1:47 000, male/female ratio was 0.57, mean age 12 years and median age 14 years. The proportion of sporadic cases including WAGR (Wilms tumour, Aniridia, Genitourinary abnormalities, Mental Retardation) and Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) was 48%. In the entire study population (Sweden and Norway), the mean visual acuity (VA) was 0.2 (range 0.04–0.9). We found VA < 0.3 in 80% and <0.1 in 18% of the patients. Twenty-two patients (42%) had one or more of the sight threatening complications such as cataract/lens luxation, corneal clouding or glaucoma. Conclusion: Descriptions of aniridia in the younger are rare. This study shows that aniridia seems to be more common than previously estimated and that some complications appear early in life. Watchfulness as regards these complications and regular examinations are essential even in the youngest. [ABSTRACT FROM AUTHOR]