PMID- 37947042
OWN - NLM
STAT- MEDLINE
DCOM- 20240229
LR  - 20240229
IS  - 1531-8257 (Electronic)
IS  - 0885-3185 (Linking)
VI  - 39
IP  - 2
DP  - 2024 Feb
TI  - Neurodegeneration with Brain Iron Accumulation Disorders and Retinal 
      Neurovascular Structure.
PG  - 411-423
LID - 10.1002/mds.29644 [doi]
AB  - BACKGROUND: The unique neurovascular structure of the retina has provided an 
      opportunity to observe brain pathology in many neurological disorders. However, 
      such studies on neurodegeneration with brain iron accumulation (NBIA) disorders 
      are lacking. OBJECTIVES: To investigate NBIA's neurological and ophthalmological 
      manifestations. METHODS: This cross-sectional study was conducted on genetically 
      confirmed NBIA patients and an age-gender-matched control group. The thickness of 
      retinal layers, central choroidal thickness (CCT), and capillary plexus densities 
      were measured by spectral domain-optical coherence tomography (SD-OCT) and OCT 
      angiography, respectively. The patients also underwent funduscopy, 
      electroretinography (ERG), visual evoked potential (VEP), and neurological 
      examination (Pantothenate-Kinase Associated Neurodegeneration-Disease Rating 
      Scale [PKAN-DRS]). The generalized estimating equation model was used to consider 
      inter-eye correlations. RESULTS: Seventy-four patients' and 80 controls' eyes 
      were analyzed. Patients had significantly decreased visual acuity, reduced inner 
      or outer sectors of almost all evaluated layers, increased CCT, and decreased 
      vessel densities, with abnormal VEP and ERG in 32.4% and 45.9%, respectively. 
      There were correlations between visual acuity and temporal peripapillary nerve 
      fiber layer (positive) and between PKAN-DRS score and disease duration 
      (negative), and scotopic b-wave amplitudes (positive). When considering only the 
      PKAN eyes, ONL was among the significantly decreased retinal layers, with no 
      differences in retinal vessel densities. Evidence of pachychoroid was only seen 
      in patients with Kufor Rakeb syndrome. CONCLUSION: Observing pathologic 
      structural and functional neurovascular changes in NBIA patients may provide an 
      opportunity to elucidate the underlying mechanisms and differential retinal 
      biomarkers in NBIA subtypes in further investigations. (c) 2023 International 
      Parkinson and Movement Disorder Society.
CI  - (c) 2023 International Parkinson and Movement Disorder Society.
FAU - Amini, Elahe
AU  - Amini E
AUID- ORCID: 0000-0002-7223-2391
AD  - ENT and Head and Neck Research Center, The Five Senses Health Institute, Iran 
      University of Medical Sciences, Tehran, Iran.
AD  - Department of Neurology, School of Medicine, Iran University of Medical Sciences, 
      Tehran, Iran.
FAU - Rohani, Mohammad
AU  - Rohani M
AUID- ORCID: 0000-0002-5409-1804
AD  - Department of Neurology, School of Medicine, Iran University of Medical Sciences, 
      Tehran, Iran.
AD  - Skull Base Research Center, The Five Senses Health Institute, Iran University of 
      Medical Sciences, Tehran, Iran.
FAU - Fasano, Alfonso
AU  - Fasano A
AUID- ORCID: 0000-0001-5346-0180
AD  - University Health Network University of Toronto, Toronto, Ontario, Canada.
FAU - Azad, Zahra
AU  - Azad Z
AUID- ORCID: 0000-0002-2643-0354
AD  - Skull Base Research Center, The Five Senses Health Institute, Iran University of 
      Medical Sciences, Tehran, Iran.
FAU - Miri, Shahnaz
AU  - Miri S
AD  - Vision Neurology Center, San Francisco, California, USA.
FAU - Habibi, Seyed Amir Hassan
AU  - Habibi SAH
AD  - Department of Neurology, School of Medicine, Iran University of Medical Sciences, 
      Tehran, Iran.
AD  - Skull Base Research Center, The Five Senses Health Institute, Iran University of 
      Medical Sciences, Tehran, Iran.
FAU - Emamikhah, Maziar
AU  - Emamikhah M
AUID- ORCID: 0000-0001-8375-5262
AD  - Department of Neurology, School of Medicine, Iran University of Medical Sciences, 
      Tehran, Iran.
AD  - Skull Base Research Center, The Five Senses Health Institute, Iran University of 
      Medical Sciences, Tehran, Iran.
FAU - Mirshahi, Reza
AU  - Mirshahi R
AD  - Eye Research Center, The Five Senses Health Institute, Iran University of Medical 
      Sciences, Tehran, Iran.
FAU - Joghataei, Mohammad Taghi
AU  - Joghataei MT
AD  - Cellular and Molecular Research Center, Iran University of Medical Sciences, 
      Tehran, Iran.
FAU - Gholibeigian, Zeinab
AU  - Gholibeigian Z
AD  - Skull Base Research Center, The Five Senses Health Institute, Iran University of 
      Medical Sciences, Tehran, Iran.
FAU - Ghasemi Falavarjani, Khalil
AU  - Ghasemi Falavarjani K
AD  - Eye Research Center, The Five Senses Health Institute, Iran University of Medical 
      Sciences, Tehran, Iran.
LA  - eng
GR  - 4001387/National Institute for Medical Research Development/
PT  - Journal Article
DEP - 20231110
PL  - United States
TA  - Mov Disord
JT  - Movement disorders : official journal of the Movement Disorder Society
JID - 8610688
RN  - E1UOL152H7 (Iron)
SB  - IM
MH  - Humans
MH  - Cross-Sectional Studies
MH  - Evoked Potentials, Visual
MH  - Retina/diagnostic imaging/pathology
MH  - Brain
MH  - *Pantothenate Kinase-Associated Neurodegeneration
MH  - *Neurodegenerative Diseases/pathology
MH  - Tomography, Optical Coherence
MH  - Iron
OTO - NOTNLM
OT  - iron
OT  - neurodegeneration with brain iron accumulation (NBIA)
OT  - optical coherence tomography
OT  - pantothenate-kinase associated neurodegeneration
OT  - retinal degeneration
EDAT- 2023/11/10 06:45
MHDA- 2024/02/29 06:42
CRDT- 2023/11/10 04:22
PHST- 2023/10/07 00:00 [revised]
PHST- 2023/05/09 00:00 [received]
PHST- 2023/10/10 00:00 [accepted]
PHST- 2024/02/29 06:42 [medline]
PHST- 2023/11/10 06:45 [pubmed]
PHST- 2023/11/10 04:22 [entrez]
AID - 10.1002/mds.29644 [doi]
PST - ppublish
SO  - Mov Disord. 2024 Feb;39(2):411-423. doi: 10.1002/mds.29644. Epub 2023 Nov 10.