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Journal Francais D'ophtalmologie Jun 2022Congenital aniridia is a rare panocular disease defined by a national diagnostic and care protocol (PNDS) validated by the HAS. In most cases, it is due to an... (Review)
Review
Congenital aniridia is a rare panocular disease defined by a national diagnostic and care protocol (PNDS) validated by the HAS. In most cases, it is due to an abnormality in the PAX6 gene, located at 11p13. Aniridia is a potentially blinding autosomal dominant disease with high penetrance. The prevalence varies from 1/40,000 births to 1/96,000 births. Approximately one third of cases are sporadic. Ocular involvement includes complete or partial absence of iris tissue, corneal opacification with neovascularization, glaucoma, cataract, foveal hypoplasia, optic disc hypoplasia and ptosis. These ocular disorders coexist to varying degrees and progress with age. Congenital aniridia manifests in the first months of life as nystagmus, visual impairment and photophobia. A syndromic form such as WAGR syndrome, WAGRO syndrome (due to the risk of renal Wilms tumor) or Gillespie syndrome (cerebellar ataxia) must be ruled out. Systemic associations may include diabetes, due to expression of the PAX6 gene in the pancreas, as well as other extraocular manifestations. Initial assessment is best carried out in a referral center specialized in rare ophthalmologic diseases, with annual follow-up. The management of progressive ocular involvement must be both proactive and responsive, with medical and surgical management. Visual impairment and photophobia result in disability, leading to difficulties in mobility, movement, communication, learning, fine motor skills, and autonomy, with consequences in personal, school, professional, socio-cultural and athletic life. Medico-socio-educational care involves a multidisciplinary team. Disability rehabilitation must be implemented to prevent and limit situations of handicap in activities of daily living, relying on the Commission for the Rights and Autonomy of People with Disabilities (CDAPH) within the Departmental House of People with Disabilities (MDPH). The general practitioner coordinates multidisciplinary medical and paramedical care.
Topics: Activities of Daily Living; Aniridia; Humans; Photophobia; Physicians; WAGR Syndrome
PubMed: 35667788
DOI: 10.1016/j.jfo.2022.01.005 -
Ceska a Slovenska Oftalmologie :... May 2002Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is...
Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible. The vision function in aniridia has been observed to have a wide range from blindness to a normal visual acuity. The more serious cases where blindness occurs has been due not specifically to the aniridia but to associated conditions like cataract, glaucoma, foveal hypoplasia, corneal dystrophy, nystagmus. Aniridia could be associated with the mental retardation. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation).
Topics: Adult; Aniridia; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Pedigree
PubMed: 12087663
DOI: No ID Found -
Clinical Genetics May 2010Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans... (Review)
Review
Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans involves a molecular genetic cascade in which a number of developmental genes interact in a highly organized process during the embryonic period to produce functional ocular structures. Among these genes, paired box gene 6 (PAX6) has an essential role as it encodes a phylogenetically conserved transcription factor almost universally employed for eye formation in animals with bilateral symmetry, despite widely different embryological origins. To direct eye development, PAX6 regulates the tissue-specific expression of diverse molecules, hormones, and structural proteins. In humans, PAX6 is located in chromosome 11p13, and its mutations lead to a variety of hereditary ocular malformations of the anterior and posterior segment, among which aniridia and most probably foveal hypoplasia are the major signs. Aniridia occurs due to decreased dosage of the PAX6 gene and exists in both sporadic and familial forms. The mutations are scattered throughout the gene and the vast majority of those reported so far are nonsense mutations, frameshift mutations, or splicing errors that are predicted to cause pre-mature truncation of the PAX6 protein, causing haploinsufficiency. Here we review the data regarding the mechanisms and the mutations that relate to aniridia.
Topics: Aniridia; Databases, Genetic; Eye Proteins; Haploidy; Homeodomain Proteins; Humans; Mutation; PAX6 Transcription Factor; Paired Box Transcription Factors; Repressor Proteins
PubMed: 20132240
DOI: 10.1111/j.1399-0004.2010.01372.x -
Orvosi Hetilap Jan 2023Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye.
INTRODUCTION
Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye.
OBJECTIVE
To determine the prevalence of ocular diseases in congenital aniridia by analyzing patients from a Hungarian centre.
PATIENTS AND METHODS
Patients at the Department of Ophthalmology of Semmelweis University, examined between October 2005 and May 2022, have been included. After taking the patients' medical history, a detailed ophthalmological examination has been performed.
RESULTS
Of the 82 patients in the database, 33 (age 25.69 ± 17.49 [5-59] years, 17 females [51.51%]) presented for examination and 65 eyes were examined. Nystagmus was found in 45 eyes of 23 patients (69.23%), and the patients' uncorrected distance visual acuity was 0.14 ± 0.128 (0.9 logMAR; 0.63-0.005). The aniridia-associated keratopathy was Grade 0 in 8 eyes (12.3%), Grade 1 in 10 eyes (15.38%), Grade 2 in 16 eyes (24.62%), Grade 3 in 4 eyes (6.15%) and Grade 4 in 25 eyes (38.46%). 30 eyes (46.15%) of 15 patients had secondary glaucoma, 6 eyes (9.2%) of 3 patients were glaucoma suspect. 8 eyes (12.3%) had a clear lens, 44 eyes (67.69%) had cataract, of which 22 (33.84%) were anterior cortical polar cataracts. 13 eyes (20%) were pseudophakic (PCL) and 7 eyes (10.77%) had lens dislocation or zonular insufficiency. Macular hypoplasia was found in 6 eyes of 3 patients (4.6%) and optic nerve head malformation in 2 eyes of 1 patient (3.03%).
CONCLUSION
The ocular signs of congenital aniridia are aniridia-associated keratopathy, secondary glaucoma, cataract, macular and optic nerve head hypoplasia. Systematic collaboration of different ophthalmological specialties is required for the management and care of all these ocular abnormalities. Orv Hetil. 2023; 164(4): 148-155.
Topics: Female; Humans; Child; Adolescent; Young Adult; Adult; Hungary; Aniridia; Cataract; Glaucoma; Vision Disorders; Corneal Diseases
PubMed: 36709437
DOI: 10.1556/650.2023.32697 -
Orvosi Hetilap Aug 2023Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impairment.
INTRODUCTION
Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impairment.
OBJECTIVE
To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a questionnaire developed by the ANIRIDIA-NET.
PATIENTS AND METHOD
Patients completed the Hungarian version of the 20-item ANIRIDIA-NET questionnaire with our assistance. The questionnaire covered demographic data, the most common complaints caused by the disease, the difficulties caused by low vision in different life situations and the frequency of low vision aids used in daily life.
RESULTS
33 subjects (17 female [51.51%] and 16 male [48.48%]), 16 (48.5%) children and 17 (51.5%) adults completed the questionnaire, with an age of 25.69 ± 17.49 years (5-59 years). Daily photosensitivity was reported by 27 (81.8%), dry eyes by 5 (15.2%), tearing by 4 (12.1%), fluctuating vision by 3 (9.1%), and eye pain by 2 (6.1%) subjects. The majority of respondents said that personal communication with schoolmates (16 [48.5%]) or colleagues at work (11 [33.3%]) never caused difficulties because of their visual impairment. 29 people (87.9%) never needed help with daily routines at home, 24 (72.7%) with getting to school/work and 17 (51.5%) with various activities. 29 people (87.8%) never used low vision aids for communication, 23 (69.7%) for travelling, 20 (60.6%) for participating in social activities, 18 (54.5%) for studying/work.
CONCLUSION
Although aniridia is associated with reduced visual acuity, the majority of people with congenital aniridia, especially in childhood, manage to cope with personal communication and various life situations without difficulty, despite their eye complaints. Low vision aids can be an important aid for them as they grow into adulthood and as they age. Orv Hetil. 2023; 164(34): 1342-1349.
Topics: Adult; Child; Humans; Female; Male; Adolescent; Young Adult; Vision, Low; Hungary; Aniridia; Communication; Keratoconjunctivitis Sicca; Rare Diseases
PubMed: 37634154
DOI: 10.1556/650.2023.32845 -
Survey of Ophthalmology 2023Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular...
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular morbidities such as cataract, keratopathy, optic nerve and foveal hypoplasia, and nystagmus. The iris abnormality, however, often leads to symptoms such as photophobia, glare, and decreased visual acuity, as well as cosmetic dissatisfaction. Current management options for the iris deficit include colored iris contact lenses, corneal tattooing, and tinted contact lenses. Symptoms arising from small iris defects can be resolved with surgical management using micro-tying suture techniques such as McCannel or Siepser. Currently, larger iris defects can be treated with artificial iris implants. New prosthetic options range from colored intraocular lenses to flexible custom-made silicone iris implants. With a range of therapeutic options available and given the challenges of multiple comorbidities in aniridia, we evaluate the literature relating to the use of artificial iris implants in congenital aniridia, with a focus on the different surgical implantation techniques, the clinical outcomes achieved, complications occurred, and risk of bias of the studies included.
Topics: Humans; Visual Acuity; Aniridia; Iris; Lenses, Intraocular; Prosthesis Implantation; Vision Disorders
PubMed: 36379301
DOI: 10.1016/j.survophthal.2022.11.001 -
Turkish Journal of Ophthalmology Sep 2019To report the results obtained from glaucoma drainage device (GDD) implantation in patients with aniridia-related glaucoma and to review the literature. (Review)
Review
OBJECTIVES
To report the results obtained from glaucoma drainage device (GDD) implantation in patients with aniridia-related glaucoma and to review the literature.
MATERIALS AND METHODS
We retrospectively reviewed 6 patients who underwent GDD implantation for glaucoma secondary to congenital aniridia between April 2001 and February 2015. Data on age at surgery, gender, laterality, surgeries before GDD implantation, GDD model, concomitant ocular disorders, visual acuity, and intraocular pressure (IOP) values before and at 1 and 12 months after GDD implantation, medications, follow-up period, findings during last visit, complications, and course of disease were collected.
RESULTS
Mean age at surgery was 16.00±12.31 years (range 5-37 years). Mean IOP was 33.00±12.11 (range 22-50) mmHg just before the GDD implantation with a mean of 3.5±1.2 medications. Mean IOP 1 month after implantation was 16.33±4.22 (range 12-24) mmHg with a mean of 1.5±0.8 medications; at 12 months, mean IOP was 19.50±4.76 (range 15-26) mmHg with 3.0±0.8 medications. At the last follow-up visit, IOP was 21.16±4.07 (range 16-26) mmHg with a mean of 3.33±0.51 medications. Mean follow-up was 19.16±8.8 (range 12-36) months. Surgical success rates were 83.3%, 66.6%, and 50.0% at 1 month, 12 months, and the last visit, respectively.
CONCLUSION
GDD implantation was effective in controlling aniridic glaucoma with a success rate of 83.3% at 1-month follow-up and 66.6% at 1-year follow-up. Therefore, it should be considered as an initial surgical treatment for aniridic glaucoma; the clinician should be alert for concomitant ocular disorders.
Topics: Adolescent; Adult; Aniridia; Antihypertensive Agents; Child; Child, Preschool; Female; Glaucoma; Glaucoma Drainage Implants; Humans; Intraocular Pressure; Male; Postoperative Complications; Prosthesis Implantation; Retrospective Studies; Visual Acuity; Young Adult
PubMed: 31486604
DOI: 10.4274/tjo.galenos.2019.07348 -
Ophthalmology Feb 2020
Topics: Adolescent; Adult; Aniridia; Child; Child, Preschool; Corneal Diseases; DNA Mutational Analysis; Female; Humans; Infant; Male; Microscopy, Confocal; Middle Aged; PAX6 Transcription Factor; Phenotype; Tomography, Optical Coherence; Young Adult
PubMed: 31708273
DOI: 10.1016/j.ophtha.2019.09.034 -
Cornea Mar 2003To review the ocular surface and anterior segment findings in Brachmann-de Lange syndrome and describe a new case involving aniridia and congenital glaucoma. (Review)
Review
PURPOSE
To review the ocular surface and anterior segment findings in Brachmann-de Lange syndrome and describe a new case involving aniridia and congenital glaucoma.
METHODS
A newborn presented 2 days after birth with bilateral cloudy corneas, photophobia, and epiphora. We provide a 5-year descriptive history and clinical course with review of the literature on Brachmann-de Lange syndrome.
RESULTS
Multiple ocular surgeries were performed for ocular sequelae from aniridia and congenital glaucoma including Ahmed valve placement and penetrating keratoplasties in both eyes. At 5.5 years of age, the child had a clear graft OD and amblyopia from graft failure OS following recurrent graft infections. A review of Brachmann-de Lange syndrome found 43 patients with ocular surface and anterior segment findings. The most common findings included conjunctivitis, blepharitis, microcornea, and corectopia. Aniridia and congenital glaucoma were not previously reported with Brachmann-de Lange syndrome.
CONCLUSIONS
Ocular surface and anterior segment abnormalities must be considered when examining patients with Brachmann-de Lange syndrome. Ocular findings may include vision-threatening anomalies, as in our case with aniridia and congenital glaucoma. To our knowledge, these findings are previously unreported in Brachmann-de Lange syndrome.
Topics: Aniridia; Anterior Eye Segment; Child, Preschool; Corneal Edema; Corneal Opacity; De Lange Syndrome; Female; Follow-Up Studies; Glaucoma; Glaucoma Drainage Implants; Humans; Intraocular Pressure; Keratoplasty, Penetrating
PubMed: 12605058
DOI: 10.1097/00003226-200303000-00021 -
BMC Ophthalmology Feb 2022Traumatic aniridia has been documented in eyes with a history of cataract extraction through a clear corneal wound. The proposed hypothesis is that the iris tissue was...
BACKGROUND
Traumatic aniridia has been documented in eyes with a history of cataract extraction through a clear corneal wound. The proposed hypothesis is that the iris tissue was squeezed out from the corneal wound as it is a relative weak point. However, traumatic aniridia with extensive pigmentation of the episclera has never been reported.
CASE PRESENTATION
A patient, who has surgical histories of trabeculectomy and cataract surgery many years ago, presented with refractory high intraocular pressure (IOP), almost complete loss of the iris, and diffuse pigmentation of the episclera after he had suffered from a contusion injury. In addition to numerous pigment particles and cells in the anterior chamber and a well-centered intraocular lens, protruding uvea tissue with overlying conjunctiva adjacent to the site of trabeculectomy was noted. Gonioscopy showed absence of the iris with clear view of the ciliary body.
CONCLUSIONS
The distinct presentation of this case indicates that the torn iris was displaced to the trapdoor instead of the clear cornea incision and was confined to the subconjunctival space. The scleral fistula serves as a less resistant point for releasing pressure compared to a healed corneal wound when the eye encounters a contusion injury. Further treatment options to lower IOP include repeated trabeculectomy, implantation of glaucoma drainage device, and endoscopic cyclophotocoagulation. Transscleral cyclophotocoagulation may be considered only after episcleral pigmentation has become less so as to avoid the risk of surface burn.
Topics: Aniridia; Eye Injuries; Humans; Intraocular Pressure; Lens Implantation, Intraocular; Male; Pigmentation; Trabeculectomy
PubMed: 35135509
DOI: 10.1186/s12886-022-02266-5