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Abnormality of the ocular adnexa

MedGen UID:
1670962
•Concept ID:
C4732818
•
Anatomical Abnormality
HPO: HP:0032039

Definition

An 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]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the ocular adnexa

Professional guidelines

PubMed

Management of the marginal zone lymphomas.
Vannata B, Stathis A, Zucca E
Cancer Treat Res 2015;165:227-49. doi: 10.1007/978-3-319-13150-4_9. PMID: 25655612

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
DRY EYE DISEASE. A REVIEW.
Zemanová M
Cesk Slov Oftalmol 2021 Winter;77(3):107–119. doi: 10.31348/2020/29. PMID: 34107689
Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population.
Al Essa D, Khandekar R, Galindo-Ferreiro A, Edward DP, Maktabi A, Al Hussein H, Al Sheikh O, Strianese D, Schellini SA
Orbit 2020 Oct;39(5):325-330. Epub 2019 Nov 13 doi: 10.1080/01676830.2019.1690006. PMID: 31722593
Prevalence of Ocular Pathology on Initial Screening and Incidence of New Findings on Follow-up Examinations in Children With Trisomy 21.
Umfress AC, Hair CD, Donahue SP
Am J Ophthalmol 2019 Nov;207:373-377. Epub 2019 Jun 17 doi: 10.1016/j.ajo.2019.06.006. PMID: 31220432
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

Diagnosis

Current imaging methods for assessing Graves` orbitopathy activity with particular emphasis on FDG-PET.
Ochmann A, Winder M, Nalewajka-Kołodziejczak J, Chudek J
Front Endocrinol (Lausanne) 2023;14:1138569. Epub 2023 Aug 3 doi: 10.3389/fendo.2023.1138569. PMID: 37600686Free PMC Article
Down syndrome and the eye: Ocular characteristics and ocular assessment.
Mathan JJ, Simkin SK, Gokul A, McGhee CNJ
Surv Ophthalmol 2022 Nov-Dec;67(6):1631-1646. Epub 2022 Apr 1 doi: 10.1016/j.survophthal.2022.03.006. PMID: 35367480
DRY EYE DISEASE. A REVIEW.
Zemanová M
Cesk Slov Oftalmol 2021 Winter;77(3):107–119. doi: 10.31348/2020/29. PMID: 34107689
Subepidermal Calcinosis in the Ocular Adnexa: A Systematic Review.
Khine KT, Shi DS, Bernhisel A, Gertsch KR, Mamalis N, Patel BCK, Dutton JJ
Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):101-105. doi: 10.1097/IOP.0000000000000936. PMID: 28430707
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

Therapy

Case Report: Corneal Ulceration from Bilateral Ectropion Due to Congenital Ichthyosis.
Vollmer L, Sowka J
Optom Vis Sci 2019 Sep;96(9):706-709. doi: 10.1097/OPX.0000000000001415. PMID: 31479026
Anterior segment and external ocular disorders associated with HIV infections in the era of HAART in Chiang Mai University Hospital, a prospective descriptive cross sectional study.
Singalavanija T, Ausayakhun S, Tangmonkongvoragul C
PLoS One 2018;13(2):e0193161. Epub 2018 Feb 21 doi: 10.1371/journal.pone.0193161. PMID: 29466424Free PMC Article
Management of the marginal zone lymphomas.
Vannata B, Stathis A, Zucca E
Cancer Treat Res 2015;165:227-49. doi: 10.1007/978-3-319-13150-4_9. PMID: 25655612
Prevalence of biomicroscopic findings in the anterior segment and ocular adnexa among schoolchildren in Natal/Brazil.
Garcia CA, Pinheiro FI, Montenegro DA, Gomes AH, Oréfice F
Arq Bras Oftalmol 2005 Mar-Apr;68(2):167-70. Epub 2005 May 18 doi: 10.1590/s0004-27492005000200003. PMID: 15905935
Ocular cicatricial pemphigoid.
Holsclaw DS
Int Ophthalmol Clin 1998 Fall;38(4):89-106. doi: 10.1097/00004397-199803840-00009. PMID: 10200078

Prognosis

Distichiasis: An update on etiology, treatment and outcomes.
Singh S
Indian J Ophthalmol 2022 Apr;70(4):1100-1106. doi: 10.4103/ijo.IJO_1141_21. PMID: 35325995Free PMC Article
Prevalence of Ocular Pathology on Initial Screening and Incidence of New Findings on Follow-up Examinations in Children With Trisomy 21.
Umfress AC, Hair CD, Donahue SP
Am J Ophthalmol 2019 Nov;207:373-377. Epub 2019 Jun 17 doi: 10.1016/j.ajo.2019.06.006. PMID: 31220432
Ocular cicatricial pemphigoid.
Holsclaw DS
Int Ophthalmol Clin 1998 Fall;38(4):89-106. doi: 10.1097/00004397-199803840-00009. PMID: 10200078
Lymphoproliferative disorders of the ocular adnexa.
Cockerham GC, Jakobiec FA
Int Ophthalmol Clin 1997 Fall;37(4):39-59. doi: 10.1097/00004397-199703740-00005. PMID: 9429931
Kaposi's sarcoma of the ocular adnexa.
Brun SC, Jakobiec FA
Int Ophthalmol Clin 1997 Fall;37(4):25-38. doi: 10.1097/00004397-199703740-00004. PMID: 9429930

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
Corneal epitheliopathy in congenital methemoglobinemia.
Chaurasia S, Ramappa M, Bhargava A
Cornea 2014 Apr;33(4):422-4. doi: 10.1097/ICO.0000000000000076. PMID: 24503601
Orbital syndromes.
Bhatti MT
Semin Neurol 2007 Jul;27(3):269-87. doi: 10.1055/s-2007-979685. PMID: 17577868
N-linked glycoside and glucuronide conjugates of the retinoid, acitretin, are biologically active in cornea and conjunctiva.
Ubels JL, Woo EM, Curley RW Jr
J Ocul Pharmacol Ther 1998 Dec;14(6):505-16. doi: 10.1089/jop.1998.14.505. PMID: 9867334
Kaposi's sarcoma of the ocular adnexa.
Brun SC, Jakobiec FA
Int Ophthalmol Clin 1997 Fall;37(4):25-38. doi: 10.1097/00004397-199703740-00004. PMID: 9429930

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
Subepidermal Calcinosis in the Ocular Adnexa: A Systematic Review.
Khine KT, Shi DS, Bernhisel A, Gertsch KR, Mamalis N, Patel BCK, Dutton JJ
Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):101-105. doi: 10.1097/IOP.0000000000000936. PMID: 28430707

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