Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis

Ophthalmic Genet. 2019 Dec;40(6):588-590. doi: 10.1080/13816810.2019.1709125. Epub 2020 Jan 7.

Authors

Moustafa Magliyah^{1

2}, Osama AlRaddadi^{1

3}, Abdullah Balbaid^{1

4}, Patrik Schatz^{1

5}

Affiliations

¹ Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
² Ophthalmology Department, Prince Mohammed Medical City, AlJouf, Saudi Arabia.
³ Ophthalmology Department, Ohud Hospital, Madinah, Saudi Arabia.
⁴ Retina Department, Jeddah Eye Hospital, Jeddah, Saudi Arabia.
⁵ Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University, Lund, Sweden.

PMID: 31909682
DOI: 10.1080/13816810.2019.1709125

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Female
Humans
Membrane Transport Proteins / genetics*
Multimodal Imaging / methods*
Mutation*
Neuronal Ceroid-Lipofuscinoses / diagnostic imaging
Neuronal Ceroid-Lipofuscinoses / genetics*
Neuronal Ceroid-Lipofuscinoses / pathology*
Prognosis
Retina / diagnostic imaging
Retina / metabolism
Retina / pathology*

Substances

MFSD8 protein, human
Membrane Transport Proteins