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

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Topics are automatically created in this forum from a mix of newsfeeds. Please be aware that we have no control over the quality or factual representation of these postings. Some may be informational, whereas some may be wholly inaccurate.

Always research all options and discuss them with your physician before following any specific directive provided in these articles.

Current feeds are: Google and Pubmed
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Pubmed- Longitudinal genotype-phenotype analysis in 86 PAX6-related aniridia patients

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JCI Insight. 2021 Jun 8:148406. doi: 10.1172/jci.insight.148406. Online ahead of print.ABSTRACTAniridia 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.PMID:34101622 | DOI:10.1172/jci.insight.148406

Source: https://pubmed.ncbi.nlm.nih.gov/3410162 ... 1&v=2.14.4