A study led by BDSRA Australia Medical Advisory Board member, Prof. John Grigg (pictured) has revealed several ocular biomarkers (biological markers) specific to CLN3 disease that may assist clinicians in making timely, early diagnosis, and assist in monitoring ongoing disease progression.
Published this week in the journal 'Documenta Ophthalmologica', the study reviewed ophthalmological assessments of 5 confirmed CLN3 patients from Australia, and found there were several ocular changes common to all patients. Those changes included early onset of vision decline (median age was 5.1 years), appearance of 'Bull's eye maculopathy' (a ring-shaped area of damage around the macula - the part of the eye responsible for sharp central vision and colour perception; see image), reduced electrical activity in the retina, and two distinct, consistent structural changes to the fovea (the central portion of the macula).
In an interview with BDSRA Australia today, Prof. Grigg said "Early diagnosis is paramount for enabling patients timely access to supportive interventions as early as possible, for families to receive appropriate family counselling, and to maximise the opportunity for patients to access emerging investigational therapies".
"Monitoring visual function in CLN3 children and adolescents is particularly challenging as neurological deterioration progresses," he added, "so finding ocular biomarkers that can be consistently recorded in an outpatient setting with less invasive procedures, is important, particularly in terms of endpoints for clinical trials."
Congratulations to Prof. Grigg, to co-author and fellow BDSRA Australia Advisory Board member Dr Alex Johnson, and to all contributing authors.
The original article is publicly available and can be viewed here.
