| Abstrakt: |
A report from researchers at Poznan University of Medical Sciences in Poland discusses the coexistence of retinitis pigmentosa (RP) and ataxia in patients with PHARC, PCARP, and Oliver-McFarlane syndromes. RP is an inherited retinal dystrophy that causes severe visual impairment or blindness. The study analyzed three unrelated Polish probands affected by RP and cerebellar ataxia, identifying four novel and two previously reported genetic variants. The research highlights the importance of next-generation sequencing methods in diagnosing ultra-rare genetic disorders with overlapping features. [Extracted from the article] |
