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Human case
Author(s) -
Sergouniotis P.,
Ellingford J.,
Hall G.,
Ramsden S.,
Biswas S.,
Ashworth J.,
Black G.
Publication year - 2017
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/j.1755-3768.2017.01355
Subject(s) - disease , medicine , optometry , human disease , intensive care medicine , pathology
Summary Inherited eye disease cases will be presented with an emphasis on conditions with readily recognisable features that aid precise diagnosis. Cases of monogenic disorders mimicking common, multifactorial disease will also be shown. The value of genomic testing will be highlighted and the role of investigations to exclude/identify extraocular involvement will be discussed.