MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.
Congenital
Congenital fibrosis of the extraocular muscles
Cranial nerves
Duane retraction syndrome
Extraocular muscles
Journal
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
ISSN: 1435-702X
Titre abrégé: Graefes Arch Clin Exp Ophthalmol
Pays: Germany
ID NLM: 8205248
Informations de publication
Date de publication:
26 Mar 2024
26 Mar 2024
Historique:
received:
23
06
2023
accepted:
16
03
2024
revised:
13
03
2024
medline:
26
3
2024
pubmed:
26
3
2024
entrez:
26
3
2024
Statut:
aheadofprint
Résumé
To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process. A case-control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination. Neurodevelopmental assessments were conducted through MRI, and maximum cross-sectional area and volumes of EOMs were obtained. Three types of models were constructed using machine learning decision tree algorithms based on EOMs to predict disease diagnosis, cranial nerve abnormalities, and clinical subtypes. Patients with bilateral CN VI abnormalities had smaller volumes of LR, MR, and IR muscles compared to those with unilateral involvement (P < 0.05). Similarly, patients with CFEOM and unilateral third cranial nerve abnormalities had a smaller maximum cross-section of the affected eye's SR compared to the contralateral eye (P < 0.05). In patients with both CN III and CN VI abnormalities, the volume of SR was smaller than in patients with CN III abnormalities alone (P < 0.05). The prediction model using EOMs volume showed a diagnostic precision of 82.5% for clinical cases and 60.1% for predicting cranial nerve abnormalities. Nonetheless, the precision for identifying clinical subtypes was relatively modest, at only 41.7%. The distinctive volumetric alterations in EOMs among individuals exhibiting distinct cranial nerve anomalies associated with DRS or CFEOM provide valuable diagnostic insights into to Congenital Cranial Neurodevelopmental Disorders (CCDDs). MRI analysis of EOMs should thus be regarded as a crucial diagnostic modality.
Identifiants
pubmed: 38530452
doi: 10.1007/s00417-024-06454-5
pii: 10.1007/s00417-024-06454-5
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Tianjin Research Program of Application Foundation and Advanced Technology of China
ID : 22JCZDJC00160
Organisme : Nankai University Eye Institute
ID : NKYKD202202
Organisme : General Project of Tianjin Health Science and Technology Fund Grant
ID : TJWJ2021MS041
Organisme : Tianjin key Medical Discipline (Specialty) Construction Project Grant
ID : TJYXZDXK-016A
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Porter JD, Hauser KF (1992) Survival of extraocular muscle in long-term organotypic culture: differential influence of appropriate and inappropriate motoneurons. Dev Biol 160:39–50. https://doi.org/10.1006/dbio.1993.1284
doi: 10.1006/dbio.1993.1284
Gutowski NJ, Bosley TM, Engle EC (2003) 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25–27 October, 2002. Neuromuscul Disord 13:573–578. https://doi.org/10.1016/s0960-8966(03)00043-9
doi: 10.1016/s0960-8966(03)00043-9
pubmed: 12921795
Oystreck DT, Engle EC, Bosley TM (2011) Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol 31:69–77. https://doi.org/10.1097/WNO.0b013e31820d0756
doi: 10.1097/WNO.0b013e31820d0756
pubmed: 21317732
pmcid: 3524829
Ferreira RM, Amaral LL, Gonçalves MV, Lin K (2011) Imaging findings in congenital cranial dysinnervation disorders. Top Magn Reson Imaging 22:283–294. https://doi.org/10.1097/RMR.0000000000000009
doi: 10.1097/RMR.0000000000000009
pubmed: 24132067
Huber A (1974) Electrophysiology of the retraction syndromes. Br J Ophthalmol 58:293–300. https://doi.org/10.1136/bjo.58.3.293
doi: 10.1136/bjo.58.3.293
pubmed: 4834602
pmcid: 1214741
Parsa CF, Grant PE, Dillon WP Jr, du Lac S, Hoyt WF (1998) Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging. Am J Ophthalmol 125:399–401. https://doi.org/10.1016/s0002-9394(99)80158-5
doi: 10.1016/s0002-9394(99)80158-5
pubmed: 9512165
Kim JH, Hwang JM (2005) Presence of the abducens nerve according to the type of Duane’s retraction syndrome. Ophthalmology 112:109–113. https://doi.org/10.1016/j.ophtha.2004.06.040
doi: 10.1016/j.ophtha.2004.06.040
pubmed: 15629829
Denis D, Cousin M, Zanin E, Toesca E, Girard N (2011) Apport de l’IRM dans le syndrome de Stilling-Duane : résultats préliminaires [MRI in Duane retraction syndrome: Preliminary results]. J Fr Ophtalmol 34:476–481. https://doi.org/10.1016/j.jfo.2011.03.006
doi: 10.1016/j.jfo.2011.03.006
pubmed: 21570148
Kim JH, Hwang JM (2012) Abducens nerve is present in patients with type 2 Duane’s retraction syndrome. Ophthalmology 119:403–406. https://doi.org/10.1016/j.ophtha.2011.08.001
doi: 10.1016/j.ophtha.2011.08.001
pubmed: 22035580
Demer JL, Clark RA, Lim KH, Engle EC (2007) Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane’s retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci 48:194–202. https://doi.org/10.1167/iovs.06-0632
doi: 10.1167/iovs.06-0632
pubmed: 17197533
Reck AC, Manners R, Hatchwell E (1998) Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol 82:676–679. https://doi.org/10.1136/bjo.82.6.676
doi: 10.1136/bjo.82.6.676
pubmed: 9797671
pmcid: 1722617
Miyake N, Chilton J, Psatha M et al (2008) Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane’s retraction syndrome. Science 321:839–843. https://doi.org/10.1126/science.1156121
doi: 10.1126/science.1156121
pubmed: 18653847
pmcid: 2593867
Bosley TM, Alorainy IA, Salih MA et al (2008) The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A 146A:1235–1240. https://doi.org/10.1002/ajmg.a.32262
doi: 10.1002/ajmg.a.32262
pubmed: 18412118
pmcid: 3517166
Yamada K, Andrews C, Chan WM et al (2003) Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 35:318–321. https://doi.org/10.1038/ng1261
doi: 10.1038/ng1261
pubmed: 14595441
Nakano M, Yamada K, Fain J et al (2001) Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 29:315–320. https://doi.org/10.1038/ng744
doi: 10.1038/ng744
pubmed: 11600883
Lee JY, Park KA, Oh SY (2018) Lateral rectus muscle recession for intermittent exotropia with anomalous head position in type 1 Duane’s retraction syndrome. Graefes Arch Clin Exp Ophthalmol 256:2467–2471. https://doi.org/10.1007/s00417-018-4079-5
doi: 10.1007/s00417-018-4079-5
pubmed: 30062561
Duane A (1996) Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye. 1905. Arch Ophthalmol 114:1255–1257. https://doi.org/10.1001/archopht.1996.01100140455017
doi: 10.1001/archopht.1996.01100140455017
pubmed: 8859088
von Noorden GK (1992) Recession of both horizontal recti muscles in Duane’s retraction syndrome with elevation and depression of the adducted eye. Am J Ophthalmol 114:311–313. https://doi.org/10.1016/s0002-9394(14)71796-9
doi: 10.1016/s0002-9394(14)71796-9
Isenberg S, Urist MJ (1977) Clinical observations in 101 consecutive patients with Duane’s retraction syndrome. Am J Ophthalmol 84:419–425. https://doi.org/10.1016/0002-9394(77)90687-0
doi: 10.1016/0002-9394(77)90687-0
pubmed: 900234
Scott AB, Wong GY (1972) Duane’s syndrome. An electromyographic study. Arch Ophthalmol 87:140–147. https://doi.org/10.1001/archopht.1972.01000020142005
doi: 10.1001/archopht.1972.01000020142005
pubmed: 5057862
Ozkan SB, Ozsunar Dayanir Y, Gökçe Balci Y (2007) Hypoplastic inferior rectus muscle in association with accessory extraocular muscle and globe retraction. J AAPOS 11:488–490. https://doi.org/10.1016/j.jaapos.2007.04.016
doi: 10.1016/j.jaapos.2007.04.016
pubmed: 17933674
Vivian AJ (2020) Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders. Eye (Lond) 34:251–255. https://doi.org/10.1038/s41433-019-0700-z
doi: 10.1038/s41433-019-0700-z
pubmed: 31804624
Abdel Razek AAK, Helmy EM, Maher H, Kasem MA (2019) Diffusion tensor imaging of the lateral rectus muscle in duane retraction syndrome. J Comput Assist Tomogr 43:467–471. https://doi.org/10.1097/RCT.0000000000000859
doi: 10.1097/RCT.0000000000000859
pubmed: 31082953
Xia S, Li RL, Li YP, Qian XH, Chong V, Qi J (2014) MRI findings in Duane’s ocular retraction syndrome. Clin Radiol 69:e191–e198. https://doi.org/10.1016/j.crad.2013.12.010
doi: 10.1016/j.crad.2013.12.010
pubmed: 24631280
Yang HK, Kim JH, Hwang JM (2016) Abducens Nerve in Patients with Type 3 Duane’s Retraction Syndrome. PLoS One. 11(6):e0150670. https://doi.org/10.1371/journal.pone.0150670
doi: 10.1371/journal.pone.0150670
pubmed: 27352171
pmcid: 4924812
Guo Y, Zhang Q, Zhang T et al (2023) Magnetic Resonance Imaging Findings in Patients With Duane Retraction Syndrome [published online ahead of print, 2023 Sep 8]. J Neuroophthalmol. https://doi.org/10.1097/WNO.0000000000001909
Yüksel D, de Xivry JJO, Lefèvre P (2010) Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. Vision Res. 50(23):2334–2347. https://doi.org/10.1016/j.visres.2010.08.019
doi: 10.1016/j.visres.2010.08.019
pubmed: 20801148