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Abnormal ocular adnexa morphology

MedGen UID:
893067
•Concept ID:
C4073120
•
Anatomical Abnormality
Synonym: Abnormal morphology of the ocular adnexa
 
HPO: HP:0030669

Definition

A structural 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  
  • CROGVAbnormal ocular adnexa morphology

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
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
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 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
Fetal alcohol syndrome--an ophthalmological and socioeducational prospective study.
Strömland K, Hellström A
Pediatrics 1996 Jun;97(6 Pt 1):845-50. PMID: 8657525

Diagnosis

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
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
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
Amyloidosis of the orbit and adnexae.
Al-Nuaimi D, Bhatt PR, Steeples L, Irion L, Bonshek R, Leatherbarrow B
Orbit 2012 Oct;31(5):287-98. Epub 2012 Sep 4 doi: 10.3109/01676830.2012.707740. PMID: 22946489
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

Therapy

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 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
Optic nerve hypoplasia: comparative effects in children and rats exposed to alcohol during pregnancy.
Strömland K, Pinazo-Durán MD
Teratology 1994 Aug;50(2):100-11. doi: 10.1002/tera.1420500204. PMID: 7801297

Prognosis

Mucosa-associated lymphoid tissue lymphoma of the lacrimal gland: A case report and literature review.
Zhong Q, Yan Y, Li S
Medicine (Baltimore) 2024 May 24;103(21):e38303. doi: 10.1097/MD.0000000000038303. PMID: 38787969Free PMC Article
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
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
Fetal alcohol syndrome--an ophthalmological and socioeducational prospective study.
Strömland K, Hellström A
Pediatrics 1996 Jun;97(6 Pt 1):845-50. PMID: 8657525
Triopia: craniofacial malformation with prosencephalic duplication.
Stelnicki EJ, Marsh JL, Woolsey TA, Lee BC, Noetzel MJ
Cleft Palate Craniofac J 1995 Jul;32(4):334-45. doi: 10.1597/1545-1569_1995_032_0334_tcmwpd_2.3.co_2. PMID: 7548108

Clinical prediction guides

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
Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre.
Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A
Clin Exp Ophthalmol 2005 Apr;33(2):164-8. doi: 10.1111/j.1442-9071.2005.00990.x. PMID: 15807825
Histopathological abnormalities in ocular blood vessels of CADASIL patients.
Haritoglou C, Hoops JP, Stefani FH, Mehraein P, Kampik A, Dichgans M
Am J Ophthalmol 2004 Aug;138(2):302-5. doi: 10.1016/j.ajo.2004.02.073. PMID: 15289148
Fetal alcohol syndrome--an ophthalmological and socioeducational prospective study.
Strömland K, Hellström A
Pediatrics 1996 Jun;97(6 Pt 1):845-50. PMID: 8657525

Recent systematic reviews

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 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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