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Personalized ophthalmology.

Porter LF, Black GC - Clin. Genet. (2014)

Bottom Line: It also promises to alter prediction, diagnosis and management of the complex disease age-related macular degeneration.Two important areas of focus are required for adoption of personalized approaches: disease stratification and individualization.Indeed, whilst many difficulties remain, personalized ophthalmology truly has the potential to revolutionize the specialty.

View Article: PubMed Central - PubMed

Affiliation: Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Royal Eye Hospital, Department of Ophthalmology, Manchester, UK.

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Tailoring through individualization: the case of glaucoma caused by MYOC mutations.
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fig05: Tailoring through individualization: the case of glaucoma caused by MYOC mutations.

Mentions: Mutations in six genes (MYOC, PITX2, FOXC1, PAX6, CYP1B1, and LTBP2) have been shown to cause overlapping phenotypes associated with congenital or juvenile glaucoma (S27), accounting for around 20% of cases of glaucoma with onset before the age of 40. The impact on clinical care and genetic counseling can be significant for those with a known genetic mutation because appropriate surveillance and timely treatment may prevent or limit sight loss 9 (Fig. 5). Indeed a study of 72 members of a family with MYOC-related glaucoma revealed that 96% of the family members benefited from genetic counseling and wished to know their myocilin status (9, S28). Detecting mutations helps to determine mode of inheritance; for example, mutations in CYP1B1 and LTBP2 cause recessive traits, whereas glaucoma caused by other known genes may be inherited in a dominant fashion. However incomplete penetrance and variable expressivity complicates recognition of the inheritance pattern (S27).


Personalized ophthalmology.

Porter LF, Black GC - Clin. Genet. (2014)

Tailoring through individualization: the case of glaucoma caused by MYOC mutations.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4232096&req=5

fig05: Tailoring through individualization: the case of glaucoma caused by MYOC mutations.
Mentions: Mutations in six genes (MYOC, PITX2, FOXC1, PAX6, CYP1B1, and LTBP2) have been shown to cause overlapping phenotypes associated with congenital or juvenile glaucoma (S27), accounting for around 20% of cases of glaucoma with onset before the age of 40. The impact on clinical care and genetic counseling can be significant for those with a known genetic mutation because appropriate surveillance and timely treatment may prevent or limit sight loss 9 (Fig. 5). Indeed a study of 72 members of a family with MYOC-related glaucoma revealed that 96% of the family members benefited from genetic counseling and wished to know their myocilin status (9, S28). Detecting mutations helps to determine mode of inheritance; for example, mutations in CYP1B1 and LTBP2 cause recessive traits, whereas glaucoma caused by other known genes may be inherited in a dominant fashion. However incomplete penetrance and variable expressivity complicates recognition of the inheritance pattern (S27).

Bottom Line: It also promises to alter prediction, diagnosis and management of the complex disease age-related macular degeneration.Two important areas of focus are required for adoption of personalized approaches: disease stratification and individualization.Indeed, whilst many difficulties remain, personalized ophthalmology truly has the potential to revolutionize the specialty.

View Article: PubMed Central - PubMed

Affiliation: Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Royal Eye Hospital, Department of Ophthalmology, Manchester, UK.

Show MeSH
Related in: MedlinePlus