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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

Eye and ocular adnexa manifestations of MED12-related disorders.
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
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.
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
Comparative Study of Clinical, Pathological, Radiological, and Genetic Features of Patients With Adult Ocular Adnexal Xanthogranulomatous Disease, Erdheim-Chester Disease, and IgG4-Related Disease of the Orbit/Ocular Adnexa.
McKelvie P, McNab AA, Hardy T, Rathi V
Ophthalmic Plast Reconstr Surg 2017 Mar/Apr;33(2):112-119. doi: 10.1097/IOP.0000000000000661. PMID: 26882062
Ocular adnexal IgG4-related lymphoplasmacytic infiltrative disorder.
Kubota T, Moritani S, Katayama M, Terasaki H
Arch Ophthalmol 2010 May;128(5):577-84. doi: 10.1001/archophthalmol.2010.45. PMID: 20457978
Extranodal marginal zone B-cell lymphomas of the ocular adnexa: multiparameter analysis of 34 cases including interphase molecular cytogenetics and PCR for Chlamydia psittaci.
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

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
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
Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
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
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.
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
Ocular manifestations in the X-linked intellectual disability syndromes.
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
Congenital malformations of the eye and orbit.
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

Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
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

Ocular adnexal IgG4-related lymphoplasmacytic infiltrative disorder.
Kubota T, Moritani S, Katayama M, Terasaki H
Arch Ophthalmol 2010 May;128(5):577-84. doi: 10.1001/archophthalmol.2010.45. PMID: 20457978
Plasmacytoma of the orbit involving lacrimal gland with secondary transformation into multiple myeloma: case report.
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

On the pivotal role of Elovl3/ELOVL3 in meibogenesis and ocular physiology of mice.
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
Plasmacytoma of the orbit involving lacrimal gland with secondary transformation into multiple myeloma: case report.
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
Orbital syndromes.
Bhatti MT
Semin Neurol 2007 Jul;27(3):269-87. doi: 10.1055/s-2007-979685. PMID: 17577868
T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma.
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
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
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

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
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
Eye and ocular adnexa manifestations of MED12-related disorders.
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
Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
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
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
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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