Open AccessDecreased CSF1R Signaling and the Accumulation of Reticular Pseudo-Drusen?
Author(s) -
Deirdre A. Harford,
Conor P. Delaney,
Jeffrey O’Callaghan,
Natalie Hudson,
Ruairi Connolly,
Sarah Doyle,
Michael Farrell,
Colin Doherty,
Mark Cahill,
Matthew Campbell
Publication year - 2021
Publication title -
ophthalmic surgery, lasers and imaging retina
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.676
H-Index - 30
eISSN - 2325-8179
pISSN - 2325-8160
DOI - 10.3928/23258160-20211101-01
Subject(s) - retina , leukoencephalopathy , optic nerve , reticular connective tissue , retinal , biology , neuroscience , pathology , medicine , ophthalmology , disease
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by dominant-acting mutations in the gene colony-stimulating factor 1 receptor ( CSF1R ). It is an ultra-rare leukoencephalopathy that involves demyelination of white matter and early-onset dementia. It has been well validated that mutations in the kinase region of the gene cause decreased signaling of the receptor via its two cognate ligands interleukin-34 (IL-34) and colony-stimulating factor-1 (CSF-1). In this article, we report a thorough analysis of retinal integrity in a 48-year-old genetically diagnosed ALSP patient. We show that although the optic nerve, optic chiasm, and optic tracts are relatively preserved, the patient has visual field deficits likely due to optic radiation and/or cortical atrophy. Intriguingly, we report the appearance of inner retinal vascular leakage and the appearance of reticular pseudo-drusen (RPD)-like deposits. We propose that the early stages of RPD accumulation may be associated with an attenuated CSF-1 receptor signaling axis. [ Ophthalmic Surg Lasers Imaging Retina. 2021;52:666-671.] .