Neuro-Ophthalmologic and Electroretinographic Finding in Pantothenate Kinae-Aociated Neurodegeneration (formerly Hallervorden-patz yndrome)

Purpoe The onet of pantothenate kinae-aociated neurodegeneration (PKAN) occur in the firt and econd decade of life and a pigmentary retinal degeneration i a feature of the diorder. ince the neuro-ophthalmologic and electroretinographic (ERG) feature have never been well delineated, we decribe them in 16 patient with PKAN. Deign Obervational cae erie. Method ixteen patient with genetic and neuroimaging-confirmed PKAN were examined. Ten underwent neuro-ophthalmologic examination and all had ERG. Reult Of the 10 who underwent neuro-ophthalmologic examination, all howed accadic puruit and eight howed hypometric or lowed vertical accade. even of eight had inability to uppre the vetibulo-ocular reflex; two patient could not cooperate. Two had quare wave jerk and four had poor convergence. Vertical optokinetic repone were abnormal in five, and two patient had blepharopam. Eight patient had ectoral iri paralyi and partial lo of the pupillary ruff conitent with Adie’ pupil in both eye. Only four of 10 examined patient howed a pigmentary retinopathy, but 11 of 16 had abnormal ERG ranging from mild cone abnormalitie to evere rod-cone dyfunction. No patient had optic atrophy. The PANK2 mutation of all of the patient were heterogeneou. Concluion Adie’-like pupil, abnormal vertical accade, and accadic puruit were very common. Thee finding ugget that mid-brain degeneration occur in PKAN more frequently than previouly thought. ERG abnormalitie were preent in approximately 70% and no patient had optic atrophy. Although genotype-ocular phenotype correlation could not be etablihed, allelic difference probably contributed to the variable clinical expreion of retinopathy and other clinical characteritic in thee patient.