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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
Vasavada AR, Praveen MR, Nath V, Dave K
J Cataract Refract Surg 2004 Feb;30(2):403-8. doi: 10.1016/S0886-3350(03)00502-9. PMID: 15030831

Recent clinical studies

Etiology

Kang L, Wan C
J Neurol 2022 Oct;269(10):5272-5282. Epub 2022 Jul 2 doi: 10.1007/s00415-022-11247-z. PMID: 35779086
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
Papaconstantinou D, Georgalas I, Kourtis N, Krassas A, Diagourtas A, Koutsandrea C, Georgopoulos G
Clin Interv Aging 2009;4:331-6. Epub 2009 Aug 3 doi: 10.2147/cia.s6485. PMID: 19696897Free PMC Article
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

Diagnosis

Shakrawal J, Bhatnagar KR, Agarwal N
J Fr Ophtalmol 2023 Sep;46(7):829-830. Epub 2023 May 22 doi: 10.1016/j.jfo.2022.12.033. PMID: 37225607
Jeeva-Patel T, Lutchman C, Margolin E
Ophthalmology 2021 Apr;128(4):586. doi: 10.1016/j.ophtha.2020.11.006. PMID: 33745527
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
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

Therapy

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
Doyle JJ, Reddy AK
JAMA Ophthalmol 2016 Jul 14;134(7):e160030. doi: 10.1001/jamaophthalmol.2016.0030. PMID: 27416274
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
Atkinson CS, Brodsky MC, Hiles DA, Simon JW
J Pediatr Ophthalmol Strabismus 1994 Nov-Dec;31(6):387-90. doi: 10.3928/0191-3913-19941101-09. PMID: 7714703

Prognosis

Akbari M
J Popul Ther Clin Pharmacol 2022;29(4):e30-e45. Epub 2022 Nov 9 doi: 10.47750/jptcp.2022.968. PMID: 36371649
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
Asakawa K, Ishikawa H
J Pediatr Ophthalmol Strabismus 2016 Jun 3;53 Online:e26-8. doi: 10.3928/01913913-20160509-04. PMID: 27281830
Do DV, Rismondo V, Nguyen QD
Am J Ophthalmol 2002 Dec;134(6):916-8. doi: 10.1016/s0002-9394(02)01753-1. PMID: 12470768
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

Craig SA, Baker SR, Rodd HD
Int J Paediatr Dent 2015 Nov;25(6):399-408. Epub 2014 Dec 15 doi: 10.1111/ipd.12146. PMID: 25511447
Daluwatte C, Miles JH, Christ SE, Beversdorf DQ, Lofgreen A, Berliner N, Yao G
Annu Int Conf IEEE Eng Med Biol Soc 2012;2012:3776-9. doi: 10.1109/EMBC.2012.6346789. PMID: 23366750
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
Ritch R, Forbes M, Hetherington J Jr, Harrison R, Podos SM
Ophthalmology 1984 Apr;91(4):326-31. doi: 10.1016/s0161-6420(84)34288-9. PMID: 6425761
Okajima T, Yamamura S, Hamada K, Kawasaki S, Ideta T, Ueno H, Tokuomi H
Neurology 1983 Aug;33(8):1061-4. doi: 10.1212/wnl.33.8.1061. PMID: 6683803

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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