Aniridic scleral fixation of intraocular lens: The answer to vision loss with photophobia!

Background: Aniridia is defined as missing iris tissue which can be partial, subtotal, or total. Characteristic clinical symptoms include photophobia and decreased visual acuity due to an increased light perception. In addition to this, disturbing cosmetic problems are prevalent. Even after implantation of an intraocular lens, patients often tend to be unsatisfied. Purpose: The answer to this problem lies in the implantation of an aniridic scleral fixation of intraocular lens (SFIOL), which has a central optical axis that acts as the refractive lens and a peripheral rim of a hyperpigmented area that mimics the iris and hence reduces photophobia. The purpose of the video was to demonstrate the use of black diaphragm intraocular lens (BDIOL) implantation, its surgical steps, and its outcomes. Synopsis: We report one such case where a young patient presented with post?traumatic aniridia with subluxated total cataract and spillover vitreous hemorrhage. He was subjected to a vitrectomy, cataract removal, and placement of an aniridic SFIOL with prolene 9?0 using the four?point fixation method. This gave an extremely gratifying outcome and solved both problems, that is, vision and photophobia. Highlight: Before implantation of the SFIOL, the patients had reduced visual acuity from aphakia and intolerable glare from aniridia. In this case?based approach and with relevant example, we tried to provide a solution for tricky scenarios like co?existing traumatic cataract and traumatic aniridia. The patient showed improved visual acuity and marked glare reduction after black diaphragm SFIOL implantation.

Globe rupture with aphakia, aniridia, secondary glaucoma and late corneal decompensation: A multi-staged approach to management

Severe blunt ocular trauma may result in immediate and delayed complications requiring appropriate management algorithms. We hereby report a case of globe rupture, aphakia, traumatic aniridia, and secondary glaucoma in a 33-year-old male following road traffic accident. He was treated initially by primary repair followed by novel combined approach of aniridia IOL with Ahmed glaucoma valve implantation. Delayed corneal decompensation required deferred penetrating keratoplasty. After a follow-up of 3.5 years after last surgery, patient maintains good functional vision with stable IOL, clear corneal graft and controlled intraocular pressure. A meticulously planned and staged management approach appears better suited in complex ocular trauma in such scenarios giving a good structural and functional outcome

Scleral fixation of iris-Intraocular lens complex (Reper®) with Canabrava double-flanged technique: a case report / Fixação escleral de um complexo íris-lente intraocular (Reper®) com técnica de flange duplo de Canabrava: relato de caso

ABSTRACT A 38-year-old patient who developed aphakia and aniridia secondary to trauma suffered from vision loss. To improve her vision, an iris-intraocular lens complex (Reper®) was fixed to the sclera with Canabrava's double-flanged technique. There was a satisfactory increase in the patient's visual acuity and no complications were observed during the 6-months follow-up. Canabrava technique simplifies and improves the fixation of the iris-intraocular lens complex to the sclera. It is a safe option that does not require scleral flaps or knots.

RESUMO Uma paciente de 38 anos desenvolveu afacia e ani­ridia secundárias a um trauma, levando à perda da visão. Para melhorar sua visão, um complexo de íris e lente intraocular (Reper®) foi fixado à esclera com a técnica de flange duplo de Canabrava. Houve um aumento satisfatório na acuidade visual do paciente e nenhuma complicação foi observada durante o acompanhamento de 6 meses. A técnica de Canabrava simplifica e melhora a fixação do complexo de íris e lente intraocular na esclera. É uma opção segura que não requer retalhos ou pontos esclerais.

Diagnosis and treatment of nephroblastoma with WAGR syndrome / 中华泌尿外科杂志

Objective:To discuss the diagnosis and treatment 0f WAGR syndrome.Methods:The clinical data of 10 cases of WAGR syndrome children admitted to our hospital from January 2008 to November 2019 were respectively analyzed including the clinical features, diagnosis, and surgical treatments. There were 6 males and 4 females, aged from 13 to 36 months, with an average of 23.6 months. 9 cases were diagnosed as iris absence due to ocular abnormalities in infancy, and 1 case was diagnosed as iris absence due to ocular abnormalities by physical examination because of renal mass. There were 2 boys with cryptorchidism, and 2 boys with hypospadias, 1 of which did not received operation because of mild hypospadias, and another undergoing surgery. There were no abnormality of genitourinary system in the remaining 5 cases. There were 7 cases of unilateral nephroblastoma, with 1 case at the left and 6 cases at the right, and there were 3 cases of bilateral nephroblastoma. Abdominal doppler ultrasound and enhanced abdominal CT were performed for all patients. Abdominal doppler ultrasound indicated solid mass in renal parenchyma or non-uniform echo zone. Abdominal enhanced CT indicated renal tumor with diameter of 1.8 cm-12.7 cm and locally non-uniform enhanced echo. Among the 7 cases of unilateral nephroblastoma, 4 underwent nephrectomy, 1 underwent tumor enucleation, and 2 underwent tumor enucleation for unilateral tumor complicated with nephrogenic rests. There were 3 cases of bilateral nephroblastoma, 2 cases undergoing unilateral tumor enucleation firstly and contralateral tumor enucleation following chemotherapy. One case underwent unilateral tumor nephrectomy followed by contralateral tumor enucleation. One case of unilateral nephrogenic rests did not undergo renal tumor surgery. Preoperative chemotherapy was performed in 7 patients, including 3 bilateral nephroblastoma, 1 unilateral nephroblastoma combined with contralateral nephroblastoma, and 3 unilateral tumors larger enough to pass the midline. The chemotherapy regimen was VCR+ ACTD in 5 cases, VCR+ ACTD+ CTX+ DOX/CDDP+ VP16 and VCR+ CTX+ DOX in another 2 cases respectively.Results:All 10 cases were diagnosed as nephroblastoma. There were 3 patients without preoperative chemotherapy which belongs to COG stageⅠ(1 case) and STAGEⅢ(2 cases); Preoperative chemotherapy was performed in 2 patients with SIOP stage Ⅱ, 2 patients with SIOP stage Ⅲ, and 3 patients with SIOP stageⅤ. Nine children received regular chemotherapy after surgery, among which 1 child in stage Ⅰ received DD4A chemotherapy regimens, 2 children in stage Ⅱ received DD4A and EE4A regimen respectively, and 3 of the 4 children in stage Ⅲ received regular chemotherapy after surgery, including EE4A(1 case)and DD4A(2 cases). EE4A(1 case)and DD4A(2 cases) chemotherapy were performed in 3 patients with stage Ⅴ according to their unilateral tumor stage. Ten cases were followed up, with 9 of the 10 cases having no tumor recurrence or metastasis, and death in 1 case. At present, abdominal doppler ultrasound of 1 child with nephrogenic rests showed no obvious progress. The renal function of 9 children was not significantly abnormal during the regular follow-up. The results of intelligence screening showed that 6 of the 10 patients were significantly behind their peers, and 4 had no obvious abnormality compared with their peers. Gene tests were performed 3 times after surgery, and the results showed the deletion of 11p13 and adjacent distal genes.Conclusions:WAGR syndrome is rare in clinical practice, and renal ultrasound should be monitored after diagnosis to detect renal tumors in early stage. For bilateral cases, renal function should be preserved as long as possible in order to reduce the probability of renal failure. Long-term follow-up of nephroblastoma with this syndrome is particularly important.

Ophthalmological evaluation and integrated intervention in a family with congenital aniridia in Alagoas, Brazil / Avaliação oftalmológica e intervenção integrada em família com aniridia congênita em Alagoas, Brasil

Abstract Objective: We aimed to describe the clinical and phenotypic manifestations as well as the visual prognosis of a family with CA in Northeastern Brazil. Methods: This was a cross-sectional study involving 31 individuals (56 eyes) from the same family presenting CA phenotypes. The study population resided in the municipality of Água Branca, in the backlands of the state of Alagoas, Northeastern Brazil. The clinical and phenotypic variables were analyzed. For the analysis, descriptive statistics (absolute and relative frequency and measures of central tendency and dispersion) and inferential statistics (Shapiro-Wilk and Student's t tests) were used, with 95% confidence intervals and significance set at 5%. Results: Of the 31 individuals, 18 (58.1%) were male, with a mean age of 27.45 ± 17.49 years, with no difference between sexes. Of the 56 eyes evaluated, 26 and 30 were right and left eyes, respectively; 61.3% (n = 19) individuals had complete bilateral aniridia and 25.8% (n = 8) reported a total loss of light perception in both the eyes. The most prevalent ocular abnormalities were nystagmus (n = 27; 87.09%), cataract (n = 20; 64.5%), strabismus (n = 14; 45.2%), corneal changes such as opacities and/or vascularization (n = 13; 41.93%), and ectopia lentis (n = 6; 19.4%). Further, 13 individuals underwent retinal optical coherence tomography, six man and seven women aged 9-48 (mean, 30.15 ± 15.9) years. All patients presented absence of foveal depression as well as reduced macular thickness and visual acuity. Nine subjects underwent phacoemulsification. Conclusion: The study showed wide phenotypic variation among the studied individuals, with poor visual prognosis. The study highlights the need to establish comprehensive care mechanisms for families with the disease.

Resumo Objetivo: Descrever manifestações clínicas e fenotípicas e o prognóstico visual de uma família com aniridia congênita (AC). Métodos: Trata-se de estudo transversal envolvendo 31 indivíduos (56 olhos), de uma mesma família com fenótipo de AC residindo no município de Água Branca, no sertão do estado de Alagoas, região nordeste do Brasil. Foram analisadas variáveis clínicas e fenotípicas. Para a análise, foi utilizada a estatística descritiva (frequência absoluta e relativa e medidas de tendência central e de dispersão) e inferencial (testes de Shapiro-Wilk e t Student). Considerou-se o intervalo de confiança de 95% e a significância de 5%. Resultados: Dos 31 indivíduos, 18 (58,1%) eram do sexo masculino, com média de idade de 27,45±17,49, sem diferença entre os sexos. Dos 56 olhos avaliados, 26 eram olhos direitos e 30 olhos esquerdos: 61,3% (n=19) apresentavam aniridia bilateral total; 25,8% (n=8) referiam perda total de percepção da luz em ambos os olhos. As anormalidades oculares mais prevalentes foram o nistagmo (n=27; 87,09%), catarata (n=20; 64,5%), estrabismo 14 (45,2%), alterações opacidades ou vascularização corneanas (n=13; 41,93%) e ectopia lentis (n=6; 19,4%). Os 13 indivíduos submetidos à tomografia de coerência óptica (OCT) retiniana apresentavam perda da depressão foveal, redução da espessura macular e redução da acuidade visual. Nove indivíduos foram submetidos a cirurgia de facoemulsificação. Conclusão: O estudo mostrou ampla variação fenotípica entre os indivíduos estudados, com pobre prognóstico visual. O estudo destaca a necessidade de estabelecer mecanismos de cuidado integral para as famílias com a doença.

Síndrome WAGR por deleción en heterocigosis del gen WT1: Caso clínico pediátrico / WAGR syndrome by heterozygous deletion of the WT1 gene: Pediatric case report

El síndrome WAGR (tumor de Wilms, aniridia, anomalías genitourinarias y retraso mental) es un trastorno genético infrecuente debido a la deleción de la región 11p13, que contiene los genes WT1 y PAX6. Comprende una combinación distintiva de afecciones clínicas; la aniridia y el tumor de Wilms son las más notables. Se presenta a un lactante de 17 meses con microcefalia, alteraciones oculares (buftalmos, leucocoria, aniridia bilateral), hipoplasia escrotal, testículos en la región inguinal y retraso en el neurodesarrollo, a quien se le realizó el estudio de amplificación de sondas dependiente de ligandos múltiples para WT1, que mostró haploinsuficiencia en las sondas que hibridaban la región 11p13, compatible con una deleción en heterocigosis del gen. Posteriormente, se diagnosticó tumor de Wilms. Dada su baja prevalencia, es importante difundir sus características clínicas y hacer énfasis en un manejo interdisciplinario centrado en la identificación precoz del síndrome y de sus posibles complicaciones. .

WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.

Bilateral optic nerve aplasia with corpus callosum hypogenesis in an otherwise healthy child: Report of a rare case

Optic nerve (ON) aplasia is a rare congenital anomaly. It is characterised by the absence of optic nerve, nerve fibre layer, ganglion cells, and retinal blood vessels. ON aplasia is usually unilateral. Bilateral cases are very rare. We report such a rare case with bilateral ON aplasia and corpus callosum hypogenesis. An 11-month-old male child presented with a history of not seeing or following objects since birth. On examination, the child had microcornea and the absence of an optic disc in both the eyes. In addition, the right eye showed partial aniridia and few rudimentary retinal vessels in the posterior pole, while the left eye showed a chorioretinal coloboma but no evidence of any retinal blood vessels. Flash visual evoked potential was nonrecordable in both the eyes. MRI brain and orbit showed congenital aplasia of the ON on both sides with poorly developed optic chiasm, optic tract, and lateral geniculate body along with the features of corpus callosum hypogenesis. Child had no other systemic or endocrinological abnormalities.

WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities / Síndrome WAGRO: uma condição genética rara associada à aniridia e a anormalidades oftalmológicas adicionais

ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.

RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit intelectual e obesidade e é causada por uma deleção do braço curto do cromossomo 11 (11p), onde o gene PAX6 está localizado. Aqui, nós relatamos um menino de 8 anos de idade com aniridia, catarata polar e subluxação do cristalino, além de retardo neuropsicomotor e de fala. A avaliação cariotípica revelou uma deleção intersticial envolvendo a região 11p13-p14, confirmando o diagnóstico da síndrome WAGRO. Em casos de aniridia, um diagnóstico de síndrome de WAGRO deve ser considerado.

Suprachoroidal hemorrhage after removal of releasable suture with globe massage post-trabeculectomy

A 19-year-old female, having aniridia with secondary glaucoma, presented with uncontrolled intraocular pressure (IOP) in the right eye (RE) on maximal topical and systemic medications. On examination, RE had a subluxated cataractous lens with advanced cupping. She underwent trabeculectomy with mitomycin C. On postoperative day 1, as the IOP was 32 mmHg, one releasable suture was removed followed by gentle bleb massage. On postoperative day 2, suprachoroidal hemorrhage was noted, for which the patient underwent two drainage procedures. Hemorrhagic choroidals resolved completely 4 weeks after drainage.

Genetic screening of the congenital aniridia and genotype-phenotype analysis / 中华实验眼科杂志

Objective@#To explore the genotype-phenotype correlation among 3 pedigrees affected with congenital aniridia.@*Methods@#Clinical data and genomic DNA were collected and genetic variations were screened by whole-exome sequencing, with an emphasis on PAX6-related genes.Suspected variations were verified by Sanger sequencing and quantitative polymerase chain reaction (PCR). Written informed consent was obtained from the parents of each propositus prior to entering study cohort.This study protocol was approved by Ethic Committee of Henan Eye Hospital (No.HNEECKY-2017(6)).@*Results@#Genetic analysis identified that a nonsense c. 949 C>T variation and an c. 141+ 1 G>T splicing variation of the PAX6 gene in two of the probands, while the remainder has carried a duplication in 11 p13 (chr11: 31531331-31827959) encompassing the PAX6 and ELP4 genes.Phenotype analysis showed that the probands carrying the nonsense and splicing variations had classical features including complete aniridia, macular hypoplasia, microcornea and nystagmus; the proband carrying the 11p13 duplication had microphthalmos, microcornea, macular dysplasia, iris dysgenesis, and nystagmus.@*Conclusions@#The 11p13 duplication involving the PAX6 gene may have caused over-expression of PAX6 gene, resulting in severe eye abnormalities including microphthalmos and microcornea, macular dysplasia and nystagmus.The relatively mild iris dysgenesis has distinguishing it from classical aniridia due to PAX6 haploinsufficiency.

Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM:To explore the genetic defects and prenatal diagnosis of a Chinese family with aniridia and gestational diabetes.<p>METHODS: We recruited a Chinese family with aniridia and gestational diabetes. Genomic DNA of the whole family individuals was extracted from the peripheral blood leukocytes. Encoding regions of the paired box 6(PAX6)gene was screened by PCR direct sequencing. Amniocentesis was carried out on the affected female at 18wk of gestation, and subsequently, genetics analysis was performed based on the result of mutation screening.<p>RESULTS: In this study, the patients with aniridia and congenital cataract carried a heterozygous deletion mutation(c.113_129del GGCCGTGCGACATTTCC, p.Arg38ProfsTer12)in exon 5 of PAX6. One of the patients was affected with diabetes while this lady also had gestational diabetes. The result of prenatal diagnosis suggested the fetus carried the same mutation and will be affected with the aniridia, which was confirmed by postpartum follow-up.<p>CONCLUSION: It was suggested that a reported deletion mutation in the PAX6 was identified again in a Chinese family with aniridia and congenital cataract. It contributed to more literature information for the human PAX6 allelic variant database and provided an analysis basis for prenatal diagnosis.

Mutation analysis of a family affected with congenital aniridia and congenital cataract / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To identify the potential mutation in a Chinese family affected with congenital aniridia and cataract, which can expands the mutation spectrum of antosomal dominant congenital aniridia.<p>METHODS: A Chinese family with congenital aniridia and cataract and 100 unrelated controls were recruited, peripheral venous blood was collected for genomic DNA extraction. Candidate genes sequencing was performed by direct DNA sequencing to screen out the <i>PAX6 </i>mutation.<p>RESULTS: All affected individuals in the family showed aniridia and cataract. A novel non-sense mutation c.991 C>T in exon 11 of <i>PAX6</i> was exclusively observed in all affected individuals but not in any of the unaffected family members or unrelated controls, which results in the truncation of encoding protein(R331X). <p>CONCLUSION: We identified a novel mutation in the <i>PAX6</i> R331X, which may be responsible for the pathogenesis of congenital aniridia and cataract.

The role of a femtosecond laser in congenital cataract associated with aniridia / O papel do laser de femtosegundo na catarata congênita associada à aniridia

ABSTRACT A patient with bilateral aniridia and progressive congenital cataract was treated at the age of 7 years through phacoaspiration with femtosecond laser capsulotomy, in-the-bag intraocular lens implantation, and pars plana vitrectomy (combined with posterior capsulotomy). The diameter of the planned anterior capsulotomy was 4.7 mm; however, due to elevated tension in the young capsular bag, the capsulotomy diameter increased (to around 6 mm) shortly after release of the tension by the laser. In addition, the patient had a very flat and small cornea, causing the formation of air bubbles in the curved laser interface. This was addressed by filling the gap by using a viscoelastic. A very similar situation was observed in both eyes. Use of the femtosecond laser facilitated a successful outcome in a complex congenital cataract case with a safe capsulotomy that ensured in-the-bag intraocular lens placement.

RESUMO Paciente com aniridia bilateral e catarata congê­nita progressiva foi tratado com a idade de 7 anos através de facoemulsificação com capsulotomia anterior por laser de femtosegundo, implante de lente intra-ocular e vitrectomia via pars plana (combinada com capsulotomia posterior). O diâmetro da capsulotomia anterior prevista foi de 4,7mm, porém, devido à elevada tensão do saco capsular jovem, o diâmetro da capsulotomia aumentou (para cerca de 6mm) logo após a liberação da tensão pelo laser. Além disso, o paciente tinha uma córnea muito plana e pequena, causando a formação de bolhas de ar na interface do laser. Isso foi resolvido preenchendo a lacuna usando um viscoelástico. Uma situação muito semelhante foi observada em ambos os olhos. O uso do laser de femtosegundo facilitou um resultado bem-sucedido em um caso complexo de catarata congênita com uma capsulotomia anterior segura que garantiu a colocação da lente intra-ocular dentro do saco capsular.

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. Results: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling. Conclusion: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management.

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

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.

A Case of Isolated Traumatic Aniridia in a Pseudophakic Eye

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.

Genetic analysis of a Chinese family with congenital aniridia and detection of PAX6 mutation locus / 中华实验眼科杂志

Background Congenital aniridia is a rare bilateral hereditary ophthalmopathy which impact panocular.Researches showed that congenital aniridia can be caused by different mutation locus of PAX6 genes,and the mutations are multifarious.Objective This study was to detect and anaiyze the mutations of a Chinese family with congenital aniridia by using targeted sequence capture sequencing and direct Sanger sequencing.Methods This study was approved by Ethic Committee of the First Affiliated Hospital of Zhengzhou University and followed Declaration of Helsinki.Written informed consent was obtained from subjects or their custodians before any related medical examination.A cross-sectional study was performed.A Chinese congenital aniridia family was included at the First Affiliated Hospital of Zhengzhou University in March,2016.All the family members received systemic medical examinations including nervous system and oral glucose tolerance test and then the ocular examinations were carried out.The periphery blood of 10 ml was collected from the members for genomic DNA extraction.Targeted sequence capture sequencing was performed on the DNA of proband to screen out the suspicious mutant locus.The mutation was verified by comparing the Sanger direct sequencing results from all family members.Results A total of 3 generations of 9 members were included in this congenital aniridia pedigree,and the Ⅰ 1 was dead without eye abnormality.Three patients (Ⅱ2 and her children Ⅲ1,Ⅲ2) and 5 normal family members were determined,showing an autosomal dominant inheritance pattern.No abnormal signs were found in nervous system and oral glucose tolerance test in the families.The reduce of visual acuity,ocular hypertension (21 mmHg),absence of biocular iris,opacification of corneal stroma,horizontal nystagmus,hapoplasia of fovea were found in all the sufferers.In addition,the ptosis of the left eye,congenital cataract of the right eye in Ⅱ 2 patient as well as biocular cataract and subluxation of lenses also were exhibited.The c.183C＞A mutation of the PAX6 gene was screened out to be a possible pathogenic mutation.The result of Sanger direct sequencing in the families verified a co-segregation of this mutation with mutant phenotypes.Conclusions PAX6 gene c.183C ＞A,a rare mutation in Chinese population,is a virulence mutation site in this aniridia family.

Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye / Aniridia após trauma contuso e deiscência presumida da incisão em um olho pseudofácico

ABSTRACT This was a report about a pseudophakic patient who experienced isolated total aniridia without damage to other intraocular structures following blunt trauma to the eye. This patient had a history of uneventful cataract surgery using a small clear corneal incision (CCI). This 71-year-old male presented at our clinic with glare in his left eye. He reported that he had fallen down while drunk and struck his left eye against a stone on the road 15 days earlier. He had undergone cataract surgery on his left eye nine months before the accident at another eye clinic. Slit-lamp examination showed total aniridia in his left eye, but there was no hyphema or cells in the anterior chamber. The intraocular lens in his left eye was stable, without decentration, dislocation, or zonular dehiscence and remained in an intact capsular bag. Review of the medical records from the surgical clinic at which he had undergone cataract surgery indicated no specific findings for any intraocular structure including the iris. He had previously undergone an uneventful phacoemulsification for his left eye through a 2.2 mm CCI, followed by the implantation of a single piece acrylic intraocular lens inside an intact capsular bag. This report showed that small-sized CCIs can be opened postoperatively by trauma and that this can result in isolated total aniridia without damage to other intraocular structures.

RESUMO Relatamos um paciente com história de cirurgia de catarata sem intercorrências usando uma pequena incisão na córnea clara (CCI), que apresentou aniridia total isolada, sem danos a outras estruturas intraoculares, após trauma contuso no olho. Um homem de 71 anos de idade apresentou-se em nossa clínica referindo brilho no olho esquerdo. Ele relatou que, 15 dias antes, havia caído enquanto estava bêbado e atingiu seu olho esquerdo contra uma pedra na estrada. Ele havia passado por uma cirurgia de catarata no olho esquerdo, nove meses antes do acidente em outro serviço. Exame de lâmpada de fenda mostrou aniridia total de olho esquerdo, sem hifema ou células na câmara anterior. A lente intraocular no olho esquerdo ficou estável, com o saco capsular restante intacto, sem descentralização, luxação ou deiscência zonular. O exame dos registros médicos do serviço em que ele havia se submetido a uma cirurgia de catarata não mostraram relatos específicos a qualquer estrutura intraocular, incluindo a íris. O olho esquerdo fora submetido à facoemulsificação sem complicações, através de um CCI de 2,2 mm, seguido pela implantação de uma lente intraocular acrílica peça única dentro do saco capsular intacto. Este relatório mostra que, mesmo pequenas CCIs podem ser abertas no pós-operatório por trauma e que isso pode resultar em aniridia total isolada, sem danos a outras estruturas intraoculares.

Combined transscleral fixation of an artificial iris prosthesis with an intraocular lens / Combinação de fixação transescleral de prótese de íris artificial com lente intraocular

ABSTRACT Post-traumatic aniridia combined with aphakia may be seen after globe injury. Aside from esthetic aspects, partial or total loss of the iris tissue may also be related to various degrees of glare and photophobia. Such patients suffer from severe visual impairment secondary to aphakia. Herein we describe a novel surgical technique for the management of an aphakic eye with traumatic aniridia for a patient who underwent transscleral fixation of a custom-tailored artificial iris prosthesis combined with a rigid intraocular lens (IOL). Tight suturing of the IOL haptic eyelets on the silicone iris prosthesis and fixation of such a complex to the scleral wall may provide excellent cosmetic and functional outcomes in aphakic eyes with aniridia.

RESUMO Aniridia pós-traumática combinada com afacia pode ser observada após lesões do globo ocular. Além do ponto de vista estético, a perda parcial ou total do tecido da íris também pode estar relacionada com vários graus de ofuscamento e fotofobia. Estes pacientes sofrem de deficiência visual grave secundária a afacia. Relata-se uma técnica cirúrgica inovadora para tratamento de um olho com afacia associada à aniridia traumática que foi submetido à fixação transescleral de uma prótese de íris artificial feita sob medida combinada com uma lente intraocular rígida (IOL). A sutura das alças da IOL sobre a prótese iriana de silicone, e a fixação desse complexo na parede escleral podem proporcionar excelente resultado estético e funcional em olhos afácicos com aniridia.