OP8 – 2655: Intraocular pathology in PKAN and MPAN, i.e. main forms of NBIA (formerly Hallervorden-Spatz syndrome)

Abstract

Objective In the group of neurodegenerative diseases with iron accumulation in the brain (NBIA) two forms have been differentiated, the most common in children, PKAN and MPAN, which are genetic diseases. Mutations in PANK2 and C19orf12 genes cause occurrence of clinical symptoms of this disease, which are different for each form. In PKAN, progressive generalized dystonia is present, and in MPAN, spastic paralysis of the lower limbs occurs. Furthermore, within the course of both diseases, other clinical symptoms are observed in form of cognitive functions disorder, intraocular pathology in the organ of vision, and axonal neuropathy. Methods In case of PKAN, 41 patients (24 boys, 17 girls) in the age of 2–14 years (median 4) underwent clinical evaluation studies within the observation period of 1–18 years and in case of MPAN, the study included 30 patients (20 boys, 10 girls) in the age of 4–14 years (median 10) within the observation period of 2–26 years (median 11 years). The organ of vision was examined and evaluations were conducted in terms of functional evaluation as well as standard exam of the anterior segment and fundus of the eye was performed. Results Performed ophthalmological exams confirmed lesions in form of retinitis pigmentosa with various intensity in 22/41 (53.7%) patients with PKAN. In patients with MPAN, optic nerve atrophy of progressive nature was established in 27/30 (90%) patients and it was always accompanied by lowered visual acuity. Conclusion Obtained results of the ophthalmological exams confirmed occurrence of retinitis pigmentosa in 53% of patients with PKAN, whereas optic nerve atrophy with lowered visual acuity in 90% of patients with MPAN. In both forms of the disease, progressive nature of lesions described in the organ of vision was observed.