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Ocular melanocytosis

MedGen UID:
507939
Concept ID:
C0025210
Congenital Abnormality
Synonyms: Melanosis oculi; Melanosis Oculi; Ocular Melanocytosis; Ocular melanosis
SNOMED CT: Ocular melanosis (45795007); Ocular melanocytosis (45795007); Melanosis oculi (45795007)
 
HPO: HP:0025534

Definition

A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Ocular melanocytosis

Professional guidelines

PubMed

Cherkas E, Kalafatis NE, Marous MR, Shields CL
Clin Dermatol 2024 Jan-Feb;42(1):62-70. Epub 2023 Oct 21 doi: 10.1016/j.clindermatol.2023.10.009. PMID: 37865279
Abdolrahimzadeh S, Pugi DM, de Paula A, Scuderi G
Surv Ophthalmol 2021 May-Jun;66(3):482-492. Epub 2020 Oct 13 doi: 10.1016/j.survophthal.2020.10.002. PMID: 33058925
Thavikulwat AT, Edward DP, AlDarrab A, Vajaranant TS
J Neurosci Res 2019 Jan;97(1):57-69. Epub 2018 Apr 1 doi: 10.1002/jnr.24241. PMID: 29607552

Recent clinical studies

Etiology

Masoomian B, Dalvin LA, Riazi-Esfahani H, Ghassemi F, Azizkhani M, Mirghorbani M, Khorrami-Nejad M, Sajjadi Z, Kaliki S, Sagoo MS, Al Harby L, Al-Jamal RT, Kivelä TT, Giblin M, Lim LS, Shields CL
J AAPOS 2023 Dec;27(6):316-324. Epub 2023 Nov 8 doi: 10.1016/j.jaapos.2023.08.021. PMID: 37949393
Augsburger JJ, Brooks CC, Correa ZM
Graefes Arch Clin Exp Ophthalmol 2020 Dec;258(12):2819-2829. Epub 2020 Sep 9 doi: 10.1007/s00417-020-04919-x. PMID: 32902757Free PMC Article
Jager MJ, Shields CL, Cebulla CM, Abdel-Rahman MH, Grossniklaus HE, Stern MH, Carvajal RD, Belfort RN, Jia R, Shields JA, Damato BE
Nat Rev Dis Primers 2020 Apr 9;6(1):24. doi: 10.1038/s41572-020-0158-0. PMID: 32273508
Shields CL, Shields JA
Indian J Ophthalmol 2019 Dec;67(12):1930-1948. doi: 10.4103/ijo.IJO_2040_19. PMID: 31755426Free PMC Article
Shields CL, Shields JA
Surv Ophthalmol 2004 Jan-Feb;49(1):3-24. doi: 10.1016/j.survophthal.2003.10.008. PMID: 14711437

Diagnosis

Begaj T, Capone A Jr
Ophthalmology 2024 Jan;131(1):65. Epub 2023 May 22 doi: 10.1016/j.ophtha.2023.04.017. PMID: 37212765
Augsburger JJ, Brooks CC, Correa ZM
Graefes Arch Clin Exp Ophthalmol 2020 Dec;258(12):2819-2829. Epub 2020 Sep 9 doi: 10.1007/s00417-020-04919-x. PMID: 32902757Free PMC Article
Jager MJ, Shields CL, Cebulla CM, Abdel-Rahman MH, Grossniklaus HE, Stern MH, Carvajal RD, Belfort RN, Jia R, Shields JA, Damato BE
Nat Rev Dis Primers 2020 Apr 9;6(1):24. doi: 10.1038/s41572-020-0158-0. PMID: 32273508
Shields CL, Shields JA
Indian J Ophthalmol 2019 Dec;67(12):1930-1948. doi: 10.4103/ijo.IJO_2040_19. PMID: 31755426Free PMC Article
Shields CL, Shields JA
Surv Ophthalmol 2004 Jan-Feb;49(1):3-24. doi: 10.1016/j.survophthal.2003.10.008. PMID: 14711437

Therapy

Durante MA, Walter SD, Paez-Escamilla M, Tokarev J, Decatur CL, Dubovy SR, Schefler AC, Harbour JW
JAMA Ophthalmol 2019 Dec 1;137(12):1434-1439. doi: 10.1001/jamaophthalmol.2019.3941. PMID: 31580399Free PMC Article
Turaka K, Shields CL, Shah CP, Say EA, Shields JA
Graefes Arch Clin Exp Ophthalmol 2011 Jan;249(1):141-4. Epub 2010 Sep 19 doi: 10.1007/s00417-010-1516-5. PMID: 20853114
Honavar SG, Shields CL, Singh AD, Demirci H, Rutledge BK, Shields JA, Eagle RC Jr
Surv Ophthalmol 2002 Jan-Feb;47(1):36-41. doi: 10.1016/s0039-6257(01)00281-8. PMID: 11801268
Singh AD, De Potter P, Fijal BA, Shields CL, Shields JA, Elston RC
Ophthalmology 1998 Jan;105(1):195-8. doi: 10.1016/s0161-6420(98)92205-9. PMID: 9442799
Singh AD, Shields CL, Shields JA, De Potter P
Ophthalmology 1996 Feb;103(2):256-62. doi: 10.1016/s0161-6420(96)30707-0. PMID: 8594511

Prognosis

Masoomian B, Dalvin LA, Riazi-Esfahani H, Ghassemi F, Azizkhani M, Mirghorbani M, Khorrami-Nejad M, Sajjadi Z, Kaliki S, Sagoo MS, Al Harby L, Al-Jamal RT, Kivelä TT, Giblin M, Lim LS, Shields CL
J AAPOS 2023 Dec;27(6):316-324. Epub 2023 Nov 8 doi: 10.1016/j.jaapos.2023.08.021. PMID: 37949393
Augsburger JJ, Brooks CC, Correa ZM
Graefes Arch Clin Exp Ophthalmol 2020 Dec;258(12):2819-2829. Epub 2020 Sep 9 doi: 10.1007/s00417-020-04919-x. PMID: 32902757Free PMC Article
Jager MJ, Shields CL, Cebulla CM, Abdel-Rahman MH, Grossniklaus HE, Stern MH, Carvajal RD, Belfort RN, Jia R, Shields JA, Damato BE
Nat Rev Dis Primers 2020 Apr 9;6(1):24. doi: 10.1038/s41572-020-0158-0. PMID: 32273508
Figueira E, Rajak S, McKelvie P, Kalantzis G, Ismail A, Gonzales M, James C, McNab A, Selva D
Orbit 2018 Oct;37(5):352-357. Epub 2018 Feb 1 doi: 10.1080/01676830.2017.1423354. PMID: 29388848
Seregard S
Acta Ophthalmol Scand 1996 Aug;74(4):315-29. doi: 10.1111/j.1600-0420.1996.tb00701.x. PMID: 8883543

Clinical prediction guides

Fry MV, Williams BK Jr, Kim HJ, Di Nicola M
Retin Cases Brief Rep 2023 Mar 1;17(2):130-133. doi: 10.1097/ICB.0000000000001154. PMID: 33907078
Acosta-Fernández E, Zenteno JC, Chacón-Camacho OF, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Romo-Huerta CO, Zepeda-Romero LC, López-Marure E, Acosta-León J, García-Cruz D, Maciel-Cruz EJ, Corona-Rivera JR
Am J Med Genet A 2020 May;182(5):1223-1229. Epub 2020 Feb 5 doi: 10.1002/ajmg.a.61506. PMID: 32022998
Marous CL, Marous MR, Welch RJ, Shields JA, Shields CL
Retin Cases Brief Rep 2019 Summer;13(3):202-206. doi: 10.1097/ICB.0000000000000595. PMID: 28541267
Shields CL, Kligman BE, Suriano M, Viloria V, Iturralde JC, Shields MV, Say EA, Shields JA
Arch Ophthalmol 2011 Jun;129(6):746-50. doi: 10.1001/archophthalmol.2011.135. PMID: 21670341
Singh AD, Wang MX, Donoso LA, Shields CL, De Potter P, Shields JA
Semin Oncol 1996 Dec;23(6):768-72. PMID: 8970601

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