Retinal alterations in patients with Lafora disease

Area of Science:

• Neuroscience
• Ophthalmology
• Genetics

Background:

• Lafora disease is a genetic neurodegenerative disorder characterized by polyglucosan aggregate accumulation.
• The retina offers an accessible neural tissue for noninvasive assessment of neurological diseases.
• Noninvasive retinal imaging can aid in early diagnosis and monitoring of neurodegenerative disease progression.

Purpose of the Study:

• To characterize the retina of individuals with Lafora disease using non-invasive imaging techniques.
• To explore the potential of retinal imaging for diagnosing and monitoring Lafora disease.

Main Methods:

• Utilized optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO) to image the retinas of three individuals with Lafora disease.
• Assessed retinal thickness, ganglion cell-inner plexiform layer, outer nuclear layer + Henle fiber layer, and photoreceptor mosaic.
• Performed OCT angiography (OCTA) and examined the retinal nerve fiber layer (RNFL).

Main Results:

• Two subjects with seizure activity showed reduced retinal thickness; one asymptomatic subject had normal thickness.
• Parafoveal cone density and other clinical measures were within normal limits.
• All three subjects exhibited nummular reflectivity at the RNFL level using AOSLO, near the macula and optic nerve head.

Conclusions:

• Multimodal retinal imaging identified distinct retinal structural features in Lafora disease patients.
• AOSLO revealed previously unreported nummular reflectivity in the inner retina.
• This observed phenotype may serve as a characteristic indicator of the neurodegenerative process in Lafora disease.