Abstract
The crystalline lens of the eye has long been a model system for the complexities of tissue induction and morphogenesis as well as cell specification and differentiation. The unique protein content of the lens has also been the subject of intensive study in respect to stability, aggregation and longevity in the absence of vasculature and innervations. Cataract, the main pathology of the lens, occurs as a result of direct alterations to protein folding, stability or solubility, or indirectly via altered cellular physiology.
Although a significant portion of cases of congenital and childhood cataract are caused by genetic mutations, diagnosis has traditionally been precluded by extreme genetic heterogeneity, and phenotypic diversity and ambiguity. Precise diagnosis is important to distinguish non-syndromic from syndromic sub-types that have multisystemic complications and may be amenable to preventative treatment.
Next generation sequencing (NGS) technologies have revolutionised the approach to the study and diagnosis of human disease. Targeted-NGS approaches for the diagnosis of paediatric cataract have proven highly successful and are providing a strong model for the advantageous use of detailed phenotypic data and genomic information to dissect the molecular mechanisms and pathways underpinning ocular development and disease. NGS testing is auguring an era of genomic medicine for ophthalmology by: streamlining care pathways, enabling more informative genetic counselling and facilitating early disease intervention
Although a significant portion of cases of congenital and childhood cataract are caused by genetic mutations, diagnosis has traditionally been precluded by extreme genetic heterogeneity, and phenotypic diversity and ambiguity. Precise diagnosis is important to distinguish non-syndromic from syndromic sub-types that have multisystemic complications and may be amenable to preventative treatment.
Next generation sequencing (NGS) technologies have revolutionised the approach to the study and diagnosis of human disease. Targeted-NGS approaches for the diagnosis of paediatric cataract have proven highly successful and are providing a strong model for the advantageous use of detailed phenotypic data and genomic information to dissect the molecular mechanisms and pathways underpinning ocular development and disease. NGS testing is auguring an era of genomic medicine for ophthalmology by: streamlining care pathways, enabling more informative genetic counselling and facilitating early disease intervention
| Original language | English |
|---|---|
| Title of host publication | Congenital cataract: A concise guide to diagnosis and management |
| Editors | Scott Lambert, Ian Christopher Lloyd |
| Place of Publication | UK |
| Publisher | Springer Nature |
| Pages | 29-54 |
| Edition | 1 |
| ISBN (Electronic) | 978-3-319-27848-3 |
| ISBN (Print) | 3319278460 |
| Publication status | Published - 31 Oct 2016 |