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Abnormal pupil morphology

MedGen UID:
450993
Concept ID:
C0154936
Finding
Synonym: Pupillary abnormalities
SNOMED CT: Abnormal pupil (274093008)
 
HPO: HP:0000615

Definition

An abnormality of the pupil. [from HPO]

Conditions with this feature

Myopathy, tubular aggregate, 1
MedGen UID:
860163
Concept ID:
C4011726
Disease or Syndrome
Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate Myopathy See also TAM2 (615883), caused by mutation in the ORAI1 gene (610277) on chromosome 12q24.

Professional guidelines

PubMed

Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX
Hum Mutat 2022 Dec;43(12):2141-2152. Epub 2022 Oct 17 doi: 10.1002/humu.24483. PMID: 36208099
Jeon C, Shin JH, Woo KI, Kim YD
Korean J Ophthalmol 2012 Apr;26(2):73-9. Epub 2012 Mar 22 doi: 10.3341/kjo.2012.26.2.73. PMID: 22511831Free PMC Article
Mintz-Hittner HA, Ferrell RE, Lyons LA, Kretzer FL
Am J Ophthalmol 1992 Dec 15;114(6):700-7. doi: 10.1016/s0002-9394(14)74048-6. PMID: 1463039

Recent clinical studies

Etiology

D'Oria F, Barraquer R, Alio JL
Arch Soc Esp Oftalmol (Engl Ed) 2021 Nov;96 Suppl 1:38-51. Epub 2021 Jun 12 doi: 10.1016/j.oftale.2020.12.008. PMID: 34836587
Singhal D, Sahay P, Goel S, Asif MI, Maharana PK, Sharma N
Surv Ophthalmol 2020 May-Jun;65(3):279-293. Epub 2020 Jan 8 doi: 10.1016/j.survophthal.2019.12.006. PMID: 31923476
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342
Dahl-Jørgensen K
Acta Paediatr Suppl 1998 Oct;425:31-4. doi: 10.1111/j.1651-2227.1998.tb01249.x. PMID: 9822191

Diagnosis

Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE
Am J Med Genet A 2021 Aug;185(8):2374-2383. Epub 2021 May 10 doi: 10.1002/ajmg.a.62251. PMID: 33969943Free PMC Article
Bouffard MA
Continuum (Minneap Minn) 2019 Oct;25(5):1194-1214. doi: 10.1212/CON.0000000000000771. PMID: 31584534
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342
Dahl-Jørgensen K
Acta Paediatr Suppl 1998 Oct;425:31-4. doi: 10.1111/j.1651-2227.1998.tb01249.x. PMID: 9822191

Therapy

Dong L, Li W, Lin T, Liu B, Hong Y, Zhang X, Li X
Cell Commun Signal 2021 Feb 11;19(1):14. doi: 10.1186/s12964-020-00684-w. PMID: 33573690Free PMC Article
Singhal D, Sahay P, Goel S, Asif MI, Maharana PK, Sharma N
Surv Ophthalmol 2020 May-Jun;65(3):279-293. Epub 2020 Jan 8 doi: 10.1016/j.survophthal.2019.12.006. PMID: 31923476
Popiela MZ, Young-Zvandasara T, Nidamanuri P, Moore T, Leccisotti A, Kumar V
Cont Lens Anterior Eye 2019 Jun;42(3):295-298. Epub 2018 Nov 15 doi: 10.1016/j.clae.2018.10.010. PMID: 30448179
Jacobs SM, Van Stavern GP
Curr Neurol Neurosci Rep 2013 Nov;13(11):389. doi: 10.1007/s11910-013-0389-5. PMID: 24027004
Lee AG, Taber KH, Hayman LA, Tang RA
Arch Fam Med 1997 Jul-Aug;6(4):385-8. doi: 10.1001/archfami.6.4.385. PMID: 9225713

Prognosis

Silverstein SM, Choi JJ, Green KM, Bowles-Johnson KE, Ramchandran RS
Schizophr Bull 2022 Jun 21;48(4):728-737. doi: 10.1093/schbul/sbac050. PMID: 35640030Free PMC Article
Vanhonsebrouck E, Consejo A, Coucke PJ, Leroy BP, Kreps EO
Acta Ophthalmol 2021 Jun;99(4):405-410. Epub 2020 Sep 30 doi: 10.1111/aos.14636. PMID: 32996688
Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group
N Engl J Med 2020 Apr 30;382(18):1687-1695. Epub 2020 Apr 14 doi: 10.1056/NEJMoa1917130. PMID: 32286748
Ba-Ali S, Christensen SK, Sander B, Rosenberg T, Larsen M, Lund-Andersen H
Acta Ophthalmol 2017 Dec;95(8):809-814. Epub 2017 Mar 8 doi: 10.1111/aos.13394. PMID: 28271634
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

Clinical prediction guides

Silverstein SM, Choi JJ, Green KM, Bowles-Johnson KE, Ramchandran RS
Schizophr Bull 2022 Jun 21;48(4):728-737. doi: 10.1093/schbul/sbac050. PMID: 35640030Free PMC Article
Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group
N Engl J Med 2020 Apr 30;382(18):1687-1695. Epub 2020 Apr 14 doi: 10.1056/NEJMoa1917130. PMID: 32286748
Popiela MZ, Young-Zvandasara T, Nidamanuri P, Moore T, Leccisotti A, Kumar V
Cont Lens Anterior Eye 2019 Jun;42(3):295-298. Epub 2018 Nov 15 doi: 10.1016/j.clae.2018.10.010. PMID: 30448179
Guo L, Normando EM, Shah PA, De Groef L, Cordeiro MF
Mov Disord 2018 Sep;33(9):1390-1406. doi: 10.1002/mds.27454. PMID: 30311977
Lee AG, Taber KH, Hayman LA, Tang RA
Arch Fam Med 1997 Jul-Aug;6(4):385-8. doi: 10.1001/archfami.6.4.385. PMID: 9225713

Recent systematic reviews

Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX
Hum Mutat 2022 Dec;43(12):2141-2152. Epub 2022 Oct 17 doi: 10.1002/humu.24483. PMID: 36208099

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