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Electrophysiology of childhood retinal dystrophies
Author(s) -
BROWN M,
CHANDNA A,
HAGAN R
Publication year - 2010
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.1755-3768.2010.4124.x
Subject(s) - retinal , medicine , retinal disorder , ophthalmology , albinism , dystrophy , neuroscience , psychology , pathology , biology , genetics
Purpose To provide a systematic approach to the diagnosis of causes of impaired vision in childhood with particular reference to the role of electrophysiology in retinal dystrophies Methods We have examined the contribution Electrodiagnostic Testing (EDT) can make in determining or confirming a diagnosis. Results We have set out a systematic approach to diagnosis of both early and late onset disorders, differentiating between retinal and non‐retinal causes. Signs, symptoms, inheritance patterns and test results are tabulated against specific disorders showing the contribution EDT can make. Recent example case studies are also presented. Conclusion Electrodiagnostic testing is of particular value in identifying and differentiating causes of poor vision where there may not be clear retinal signs in the early stages such as Leber’s congenital amaurosis, CSNB, cone dystrophy and albinism. A further role is in the differentiation of retinal from post‐retinal causes.