Congenital aniridia with cataract: case series

Wang, Jin Da; Zhang, Jing Shang; Xiong, Ying; Li, Jing; Li, Xiao Xia; Xue, Le; Zhao, Jing; Tsai, Frank F.; Jhanji, Vishal; You, Qi Sheng; Huang, Yao; Wan, Xiu Hua

doi:10.1186/s12886-017-0503-6

Cited by 27 publications

(25 citation statements)

References 17 publications

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“…Both operated and unoperated eyes demonstrated a progressive decline in vision with increasing age, but the nonsurgical group maintained a better mean visual acuity for the first 5 decades. Cataracts were the most common ocular comorbidity, with a mean age of surgery of 33.2 ± 14.7 years, in keeping with the reported mean of 20–30 years in the current literature ( 7 , 38 , 53 , 54 ). The missense subgroup were operated on earlier (mean age of surgery was 20.8 ± 11.9 years), this is likely due to a better baseline visual acuity and a greater subjective reduction in vision due to the lens opacities.…”

Section: Discussionsupporting

confidence: 85%

“…The missense subgroup were operated on earlier (mean age of surgery was 20.8 ± 11.9 years), this is likely due to a better baseline visual acuity and a greater subjective reduction in vision due to the lens opacities. PAX6 has been identified in cases of congenital cataract ( 55 ), and a case series on cataract surgery in patients with congenital aniridia demonstrated some improvement in visual acuity following cataract surgery over a follow-up period of up to 18 months ( 53 ). Our study explored the visual acuity changes over an average of 16.3 years in patients with all forms of cataract and found no significant difference in visual acuity among eyes that had undergone cataract surgery (53.7%) compared with eyes with unoperated cataract (46.3%).…”

Section: Discussionmentioning

confidence: 99%

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Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Kit¹,

Cunha²,

Hagag³

et al. 2021

JCI Insight

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Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterised by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma and aniridia related keratopathy (ARK). Genotype-phenotype correlations have previously been described, however detailed longitudinal studies of aniridia are less commonly reported. We identified eighty-six patients from sixty-two unrelated families with molecularly confirmed heterozygous PAX6 variants from a United Kingdom (UK)-based single-centre ocular genetics service. They were categorised into mutation groups and retrospective review of baseline to most recent clinical characteristics (ocular and systemic) were recorded. One hundred and seventy-two eyes were evaluated, with a mean follow up period of 16.3 ± 12.7 years. Nystagmus was recorded in 87.2%, and foveal hypoplasia in 75%. Cataracts were diagnosed in 70.3%, glaucoma in 20.6% and ARK in 68.6% of eyes. Prevalence, age of diagnosis and surgical intervention varied amongst mutation groups. Overall, the missense mutation sub-group had the mildest phenotype, and surgically naïve eyes maintained better visual acuity. Systemic evaluation identified type 2 diabetes in 12.8%, which is twice the UK prevalence. This is the largest longitudinal study of aniridia in the United Kingdom, providing insights into prognostic indicators for patients and guiding clinical management of both ocular and systemic features.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Kit¹,

Cunha²,

Hagag³

et al. 2021

JCI Insight

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“…Cataract surgery is a common procedure in patients with aniridia and may result in some improvement in vision. 13 , 23 In our study, 71.4% of patients with cataract had surgery; this is similar to findings of Mayer and colleagues. 13 Special intraocular lenses (Morcher and Ophtec intraocular lens) which reduce symptoms of glare and photophobia have been produced for use in cataract surgery in aniridia.…”

Section: Discussionsupporting

confidence: 92%

“… 6 , 17 , 18 Foveal hypoplasia was found in about a third of the eyes of patients who had posterior segment examination. In a case series of congenital aniridia with cataract by Wang and colleagues, 23 all cases had foveal hypoplasia on optical coherence tomography (OCT). Low prevalence in some studies may be due to a variety of factors such as underreporting, difficulty with posterior segment examinations from corneal and lens opacification, and young age of patients at diagnosis which may have made performance of investigations such as OCT difficult.…”

Section: Discussionmentioning

confidence: 99%

Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria

et al. 2021

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Purpose: To describe the clinical features of patients younger than 16 years with aniridia presenting to the Paediatric Ophthalmology unit of the Eye Clinic, University College Hospital, Ibadan, Nigeria. Methods: The is a retrospective review of children with aniridia seen between May 2015 and April 2019 at the Paediatric Ophthalmology unit of the Eye Clinic, University College Hospital in Ibadan. Data on demographic characteristics, presenting complaints, ocular and systemic examination findings, and interventions were collected and descriptively summarised. Results: A total of 28 eyes of 14 patients were studied. The mean age was 6.37 ± 4.98 years. Seven (50%) patients were male. Aniridia was diagnosed in first-degree relatives of nine patients. The most common complaint at presentation was poor vision in 11 (78.6%) patients. Objective visual acuity assessment was obtained in 22 (78.6%) eyes. Presenting visual acuity was worse than 20/60 in all 22 eyes and worse than 20/400 in 8 (36.4%) eyes. Refraction was performed in 17 (60.7%) eyes and revealed a mean spherical equivalent of −3.93 ± 5.99 diopters. Twenty (71.4%) eyes had corneal opacities, and lenticular opacities were seen in 15 (62.5%) of 24 eyes. Mean intraocular pressure (IOP) at presentation was 21.62 ± 10.4 mmHg; 12 (41.4%) eyes had elevated IOP at presentation. Ten (35.7%) eyes had cataract surgery and six (21.4%) eyes had glaucoma surgery. Conclusion: Familial aniridia was common in this study, and most of the patients presented with moderate to severe visual impairment. The common ocular associations were refractive error, cataract, corneal opacity and glaucoma.

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“…Congenital aniridia, involving both loss of iris and other ocular abnormalities, is considered as an autosomal dominant anomaly, although sporadic cases have been reported. 1,2 It is a rare and bilateral panocular disorder characterized by incomplete formation of the iris, and its incidence in the general population is approximately 1/50,000-1/100,000. 3 The patients show a variable degree of iris hypoplasia and other panocular tissue impairments, ranging from minimal loss to near complete absence of the iris, accompanied by other eye abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation

Chen

Yang

Zhu

2018

European Journal of Ophthalmology

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Background: One prominent pathological feature of congenital aniridia is hypoplasia of the iris, often accompanied by other eye abnormalities. The objective of this study is to identify gene mutations responsible for autosomal dominance in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. Methods: A total of 11 family members, including 6 affected and 5 unaffected individuals were recruited. Whole exome sequencing was performed on the proband and Sanger sequencing was applied to identify the causal mutation in the other family members and control samples. Results: A heterozygous mutation, c. 112delC (p. Arg38fs) in PAX 6, was identified in the family that was associated with congenital aniridia, progressive cataracts and mental retardation. The mutation was exclusively observed in all affected individuals but not in unaffected family members or unrelated healthy controls without aniridia recruited from Beijing Tongren Hospital. Bioinformatics analysis indicated that the mutation c. 112delC (p. Arg38fs) in PAX 6 affected sugar phosphate backbone construction, leading to half reduction of the full-length protein. Other symptoms such as lens opacity, keratitis, lens dislocation, ciliary body hypoplasia, foveal hypoplasia and mental development retardation were also observed in this family. Conclusion: These results provided a new insight into the effects of PAX 6 as a mutational hotspot, with a symptom complex that includes congenital aniridia, progressive cataracts and mental retardation. These findings suggested the cognitive treatment of PAX 6-mutated individuals could be considered earlier clinically, combined with medication or surgery of congenital aniridia and progressive cataracts.

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Congenital aniridia with cataract: case series

Cited by 27 publications

References 17 publications

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria

Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation

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