Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment
Clin Exp Optom
.
2024 Sep 15:1-4.
doi: 10.1080/08164622.2024.2401509.
Online ahead of print.
Authors
Parker Truong
1
,
Heather G Mack
2
,
Andrew B Metha
1
,
Nelofar Deen
3
,
Doron G Hickey
2
,
Aamira Huq
4
,
Alexis Ceecee Britten-Jones
1
,
Lauren N Ayton
1
Affiliations
1
Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Australia.
2
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
3
National Vision Research Institute, Australian College of Optometry, Carlton, Australia.
4
Department of Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia.
PMID:
39277904
DOI:
10.1080/08164622.2024.2401509
No abstract available
Keywords:
Diet; multidisciplinary care; retinitis pigmentosa; syndrome.