U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Orbital cyst

MedGen UID:
56359
Concept ID:
C0155285
Disease or Syndrome; Finding
Synonym: Orbital cysts
SNOMED CT: Cyst of orbit (31021007); Orbital cyst (31021007)
 
HPO: HP:0001144
Monarch Initiative: MONDO:0001915

Definition

Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). [from HPO]

Term Hierarchy

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
Oculocerebrocutaneous syndrome
MedGen UID:
163214
Concept ID:
C0796092
Disease or Syndrome
A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.
Renal coloboma syndrome
MedGen UID:
339002
Concept ID:
C1852759
Disease or Syndrome
PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. The disorder was originally referred to as renal coloboma syndrome and characterized by renal hypodysplasia and abnormalities of the optic nerve; with improved access to molecular testing, a wider range of phenotypes has been recognized in association with pathogenic variants in PAX2. Abnormal renal structure or function is noted in 92% of affected individuals and ophthalmologic abnormalities in 77% of affected individuals. Renal abnormalities can be clinically silent in rare individuals. In most individuals, clinically significant renal insufficiency / renal failure is reported. End-stage renal disease requiring renal transplant is not uncommon. Uric acid nephrolithiasis has been reported. Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. Iris colobomas have not been reported in any individual with PAX2–related disorder. Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. Additional clinical findings include high-frequency sensorineural hearing loss, soft skin, and ligamentous laxity. PAX2 pathogenic variants have been identified in multiple sporadic and familial cases of nonsyndromic renal disease including renal hypodysplasia and focal segmental glomerulosclerosis.
Microphthalmia, isolated, with coloboma 4
MedGen UID:
344410
Concept ID:
C1855053
Disease or Syndrome
Microphthalmia with brain and digit anomalies
MedGen UID:
355268
Concept ID:
C1864689
Disease or Syndrome
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

Professional guidelines

PubMed

Ragge NK, Subak-Sharpe ID, Collin JR
Eye (Lond) 2007 Oct;21(10):1290-300. doi: 10.1038/sj.eye.6702858. PMID: 17914432
Chaudhry IA, Arat YO, Shamsi FA, Boniuk M
Ophthalmic Plast Reconstr Surg 2004 Nov;20(6):452-7. doi: 10.1097/01.iop.0000143716.12643.98. PMID: 15599246
Shields JA, Shields CL
Surv Ophthalmol 2004 May-Jun;49(3):281-99. doi: 10.1016/j.survophthal.2004.02.001. PMID: 15110666

Recent clinical studies

Etiology

Gutkovich E, Zahavi A, Man Peles I, Tomkins-Netzer O, Borisovsky N, Bejar J, Goldenberg-Cohen N, Vardizer Y
J Pediatr Ophthalmol Strabismus 2022 May-Jun;59(3):192-199. Epub 2021 Dec 20 doi: 10.3928/01913913-20210929-01. PMID: 34928774
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S
Eye (Lond) 2021 Aug;35(8):2086-2109. Epub 2021 Mar 21 doi: 10.1038/s41433-021-01501-5. PMID: 33746210Free PMC Article
Pushker N, Meel R, Kumar A, Kashyap S, Sen S, Bajaj MS
Can J Ophthalmol 2020 Apr;55(2):167-171. Epub 2019 Nov 8 doi: 10.1016/j.jcjo.2019.08.005. PMID: 31712044
Cui Y, Li Y, Hou Z, Wang Y, Chang Q, Xian J, Li D
J AAPOS 2019 Apr;23(2):92.e1-92.e6. Epub 2019 Mar 27 doi: 10.1016/j.jaapos.2018.10.015. PMID: 30928365
Cui Y, Zhang Y, Chang Q, Xian J, Hou Z, Li D
PLoS One 2016;11(6):e0157819. Epub 2016 Jun 17 doi: 10.1371/journal.pone.0157819. PMID: 27315369Free PMC Article

Diagnosis

Gutkovich E, Zahavi A, Man Peles I, Tomkins-Netzer O, Borisovsky N, Bejar J, Goldenberg-Cohen N, Vardizer Y
J Pediatr Ophthalmol Strabismus 2022 May-Jun;59(3):192-199. Epub 2021 Dec 20 doi: 10.3928/01913913-20210929-01. PMID: 34928774
Pushker N, Meel R, Kumar A, Kashyap S, Sen S, Bajaj MS
Can J Ophthalmol 2020 Apr;55(2):167-171. Epub 2019 Nov 8 doi: 10.1016/j.jcjo.2019.08.005. PMID: 31712044
Tanaboonyawat S, Idowu OO, Copperman TS, Vagefi MR, Kersten RC
Orbit 2020 Apr;39(2):128-134. Epub 2019 Sep 12 doi: 10.1080/01676830.2019.1608564. PMID: 31512543
Saatci AO, Arikan G, Saatci P, Saatci Y, Kavukcu S
J Pediatr Ophthalmol Strabismus 2008 May-Jun;45(3):181-3. doi: 10.3928/01913913-20080501-19. PMID: 18524200
Ragge NK, Subak-Sharpe ID, Collin JR
Eye (Lond) 2007 Oct;21(10):1290-300. doi: 10.1038/sj.eye.6702858. PMID: 17914432

Therapy

Topaloğlu ÖF, Durmaz MS, Yazol M, Özer H, Koplay M
Curr Med Imaging 2023;19(6):658-662. doi: 10.2174/1573405619666221129145104. PMID: 36453487
Verma S, Garg A, Nastri A
Br J Oral Maxillofac Surg 2014 Dec;52(10):977-9. Epub 2014 Oct 8 doi: 10.1016/j.bjoms.2014.08.015. PMID: 25305794
Owji N, Aslani A
Ophthalmic Plast Reconstr Surg 2005 Jul;21(4):264-6. doi: 10.1097/01.iop.0000169252.22458.5e. PMID: 16052137
Metz HS, Searl S, Rosenberg P, Sterns G
J AAPOS 1999 Jun;3(3):185-7. doi: 10.1016/s1091-8531(99)70065-0. PMID: 10428593
Sadhasivam S, Subramaniam R
Anesth Analg 1998 Sep;87(3):553-5. doi: 10.1097/00000539-199809000-00009. PMID: 9728826

Prognosis

Yan J, Li Y, Chen Q, Ye X, Li J
J Craniomaxillofac Surg 2015 Mar;43(2):238-43. Epub 2014 Nov 24 doi: 10.1016/j.jcms.2014.11.013. PMID: 25530304
Ozturker C, Kaynak P, Özkan Arat Y, Ozturk Karabulut G, Akar S, Demirok A
Ophthalmic Plast Reconstr Surg 2015 Nov-Dec;31(6):e150-2. doi: 10.1097/IOP.0000000000000185. PMID: 24833453
Verma S, Garg A, Nastri A
Br J Oral Maxillofac Surg 2014 Dec;52(10):977-9. Epub 2014 Oct 8 doi: 10.1016/j.bjoms.2014.08.015. PMID: 25305794
Mansour AM, Li HK
Ophthalmic Plast Reconstr Surg 1996 Jun;12(2):104-7. doi: 10.1097/00002341-199606000-00004. PMID: 8727176
Sherman J, Bass SJ, George A, Noble KG, Nath S
Ophthalmic Paediatr Genet 1988 Jul;9(2):131-3. doi: 10.3109/13816818809031487. PMID: 3054687

Clinical prediction guides

Topaloğlu ÖF, Durmaz MS, Yazol M, Özer H, Koplay M
Curr Med Imaging 2023;19(6):658-662. doi: 10.2174/1573405619666221129145104. PMID: 36453487
Tanaboonyawat S, Idowu OO, Copperman TS, Vagefi MR, Kersten RC
Orbit 2020 Apr;39(2):128-134. Epub 2019 Sep 12 doi: 10.1080/01676830.2019.1608564. PMID: 31512543
Li L, Liang J, Liang R, Zeng B
Eye Sci 2012 Jun;27(2):89-93. doi: 10.3969/j.issn.1000-4432.2012.02.008. PMID: 22678872
Metz HS, Searl S, Rosenberg P, Sterns G
J AAPOS 1999 Jun;3(3):185-7. doi: 10.1016/s1091-8531(99)70065-0. PMID: 10428593
Butler MG, Eisen JD, Henry J
J Pediatr Ophthalmol Strabismus 1978 Jul-Aug;15(4):233-5. doi: 10.3928/0191-3913-19780701-11. PMID: 739357Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...