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Bacterial keratitis in a Swedish county hospital: management and clinical outcome
Author(s) -
Aurell Sandra,
Granstam Elisabet
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.12935
Subject(s) - medicine , keratitis , fungal keratitis , institutional review board , medical record , visual acuity , eye care , dermatology , ophthalmology , pediatrics , surgery , optometry
about the effects of other mutations and polymorphisms in this region suggests that a functional effect through disruption of interaction with FI is likely: the protective allele of rs800292 (62I in SCR1) results in enhanced FI cofactor activity and reduced risk of AMD. A mutation of a conserved amino acid in SCR1, G69E, has also been reported in association with AMD (Raychaudhuri et al. 2011). A mutation of CFH (P503H) which is strongly associated with AMD in Amish people alters the equivalent amino acid in SCR8 as that which P139A alters in SCR2 (Hoffman et al. 2014). It is possible that rare mutations of CFH SCRs 1-4 are relatively common in people with early-onset or severe AMD. We would expect to find clustering of AMD cases in families that carry these mutations. The increasing use of massively parallel sequencing in other AMD research DNA collections will show whether this is the case. Developing real-world applications for advancing the understanding of inherited diseases is a challenge, but eye diseases continue to be prime targets for ‘personalized medicine’ based on the best knowledge of disease processes and individual risk.