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Abnormal ocular adnexa physiology

MedGen UID:
1670989
Concept ID:
C4732819
Anatomical Abnormality
HPO: HP:0032040

Definition

A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. [from HPO]

Recent clinical studies

Etiology

Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
Winter AW, Salimi A, Ospina LH, Roos JCP
Br J Ophthalmol 2019 Mar;103(3):315-326. Epub 2019 Jan 5 doi: 10.1136/bjophthalmol-2018-312846. PMID: 30612093
Rajan Kd A, Burris C, Iliff N, Grant M, Eshleman JR, Eberhart CG
Am J Ophthalmol 2014 Mar;157(3):640-7.e1-2. Epub 2013 Dec 7 doi: 10.1016/j.ajo.2013.12.002. PMID: 24321472
Kubota T, Moritani S, Katayama M, Terasaki H
Arch Ophthalmol 2010 May;128(5):577-84. doi: 10.1001/archophthalmol.2010.45. PMID: 20457978
Ruiz A, Reischl U, Swerdlow SH, Hartke M, Streubel B, Procop G, Tubbs RR, Cook JR
Am J Surg Pathol 2007 May;31(5):792-802. doi: 10.1097/01.pas.0000249445.28713.88. PMID: 17460465

Diagnosis

Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787
Winter AW, Salimi A, Ospina LH, Roos JCP
Br J Ophthalmol 2019 Mar;103(3):315-326. Epub 2019 Jan 5 doi: 10.1136/bjophthalmol-2018-312846. PMID: 30612093
Couser NL, Masood MM, Aylsworth AS, Stevenson RE
Ophthalmic Genet 2017 Sep-Oct;38(5):401-412. Epub 2017 Jan 23 doi: 10.1080/13816810.2016.1247459. PMID: 28112979
Guercio JR, Martyn LJ
Otolaryngol Clin North Am 2007 Feb;40(1):113-40, vii. doi: 10.1016/j.otc.2006.11.013. PMID: 17346564

Therapy

Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A
Ophthalmology 2005 Feb;112(2):e1-6. doi: 10.1016/j.ophtha.2004.07.034. PMID: 15691545

Prognosis

Kubota T, Moritani S, Katayama M, Terasaki H
Arch Ophthalmol 2010 May;128(5):577-84. doi: 10.1001/archophthalmol.2010.45. PMID: 20457978
Romero IL, Campos FA, Damasceno RW, Vital Filho J, Bison SH
Arq Bras Oftalmol 2009 Mar-Apr;72(2):236-8. doi: 10.1590/s0004-27492009000200020. PMID: 19466336

Clinical prediction guides

Butovich IA, Wilkerson A, Bhat N, McMahon A, Yuksel S
FASEB J 2019 Sep;33(9):10034-10048. Epub 2019 Jun 17 doi: 10.1096/fj.201900725R. PMID: 31208226Free PMC Article
Romero IL, Campos FA, Damasceno RW, Vital Filho J, Bison SH
Arq Bras Oftalmol 2009 Mar-Apr;72(2):236-8. doi: 10.1590/s0004-27492009000200020. PMID: 19466336
Bhatti MT
Semin Neurol 2007 Jul;27(3):269-87. doi: 10.1055/s-2007-979685. PMID: 17577868
Streubel B, Vinatzer U, Lamprecht A, Raderer M, Chott A
Leukemia 2005 Apr;19(4):652-8. doi: 10.1038/sj.leu.2403644. PMID: 15703784
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A
Ophthalmology 2005 Feb;112(2):e1-6. doi: 10.1016/j.ophtha.2004.07.034. PMID: 15691545

Recent systematic reviews

Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A
Eur J Med Genet 2021 Jun;64(6):104210. Epub 2021 Mar 30 doi: 10.1016/j.ejmg.2021.104210. PMID: 33794347

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