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Nummular pigmentation of the fundus

MedGen UID:
892932
Concept ID:
C4072990
Finding
Synonym: Nummular pigmentation of the retina
 
HPO: HP:0030505

Definition

Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNummular pigmentation of the fundus

Conditions with this feature

Choroideremia
MedGen UID:
944
Concept ID:
C0008525
Disease or Syndrome
Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.
Leber congenital amaurosis 8
MedGen UID:
462552
Concept ID:
C3151202
Disease or Syndrome
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Retinitis pigmentosa 86
MedGen UID:
1684789
Concept ID:
C5231428
Disease or Syndrome
Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation (de Bruijn et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Retinitis pigmentosa 87 with choroidal involvement
MedGen UID:
1684667
Concept ID:
C5231465
Disease or Syndrome
Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected (Hull et al., 2016; Li et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000.

Professional guidelines

PubMed

Li S, Shen T, Xiao X, Guo X, Zhang Q
Int J Mol Med 2014 Apr;33(4):913-8. Epub 2014 Feb 12 doi: 10.3892/ijmm.2014.1655. PMID: 24535598

Recent clinical studies

Etiology

Wang Y, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
Am J Ophthalmol 2021 Mar;223:160-168. Epub 2020 Oct 24 doi: 10.1016/j.ajo.2020.10.006. PMID: 33342761
de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M
Ophthalmol Retina 2021 Feb;5(2):195-214. Epub 2020 Jul 15 doi: 10.1016/j.oret.2020.07.008. PMID: 32679203Free PMC Article
Marquezan MC, Nascimento H, Dalbem D, Muccioli C, Belfort R
Ocul Immunol Inflamm 2020 Apr 2;28(3):402-408. Epub 2019 May 23 doi: 10.1080/09273948.2019.1588982. PMID: 31120768
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C
Indian J Ophthalmol 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. PMID: 30900587Free PMC Article
da Silva FT, Hirata CE, Olivalves E, Oyamada MK, Yamamoto JH
Am J Ophthalmol 2009 Dec;148(6):939-45.e3. Epub 2009 Sep 24 doi: 10.1016/j.ajo.2009.06.029. PMID: 19781687

Diagnosis

Wang Y, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
Am J Ophthalmol 2021 Mar;223:160-168. Epub 2020 Oct 24 doi: 10.1016/j.ajo.2020.10.006. PMID: 33342761
Marquezan MC, Nascimento H, Dalbem D, Muccioli C, Belfort R
Ocul Immunol Inflamm 2020 Apr 2;28(3):402-408. Epub 2019 May 23 doi: 10.1080/09273948.2019.1588982. PMID: 31120768
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C
Indian J Ophthalmol 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. PMID: 30900587Free PMC Article
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:153-156. doi: 10.1007/978-3-319-95046-4_28. PMID: 30578501
Sakata VM, da Silva FT, Hirata CE, de Carvalho JF, Yamamoto JH
Autoimmun Rev 2014 Apr-May;13(4-5):550-5. Epub 2014 Jan 15 doi: 10.1016/j.autrev.2014.01.023. PMID: 24440284

Therapy

Bommakanti N, Young BK, Sisk RA, Berrocal AM, Duncan JL, Bakall B, Mathias MT, Ahmed I, Chorfi S, Comander J, Nagiel A, Besirli CG
Ophthalmol Retina 2024 Jan;8(1):42-48. Epub 2023 Sep 3 doi: 10.1016/j.oret.2023.08.017. PMID: 37660736
Marquezan MC, Nascimento H, Dalbem D, Muccioli C, Belfort R
Ocul Immunol Inflamm 2020 Apr 2;28(3):402-408. Epub 2019 May 23 doi: 10.1080/09273948.2019.1588982. PMID: 31120768
Sukavatcharin S, Tsai JH, Rao NA
Int Ophthalmol 2007 Apr-Jun;27(2-3):143-8. Epub 2007 Mar 23 doi: 10.1007/s10792-006-9017-6. PMID: 17380271
Tugal-Tutkun I, Ozyazgan Y, Akova YA, Sullu Y, Akyol N, Soylu M, Kazokoglu H
Int Ophthalmol 2007 Apr-Jun;27(2-3):117-23. Epub 2006 Sep 7 doi: 10.1007/s10792-006-9001-1. PMID: 16957877
Read RW, Yu F, Accorinti M, Bodaghi B, Chee SP, Fardeau C, Goto H, Holland GN, Kawashima H, Kojima E, Lehoang P, Lemaitre C, Okada AA, Pivetti-Pezzi P, Secchi A, See RF, Tabbara KF, Usui M, Rao NA
Am J Ophthalmol 2006 Jul;142(1):119-24. doi: 10.1016/j.ajo.2006.02.049. PMID: 16815259

Prognosis

de Carvalho ER, Robson AG, Arno G, Boon CJF, Webster AA, Michaelides M
Ophthalmol Retina 2021 Feb;5(2):195-214. Epub 2020 Jul 15 doi: 10.1016/j.oret.2020.07.008. PMID: 32679203Free PMC Article
Marquezan MC, Nascimento H, Dalbem D, Muccioli C, Belfort R
Ocul Immunol Inflamm 2020 Apr 2;28(3):402-408. Epub 2019 May 23 doi: 10.1080/09273948.2019.1588982. PMID: 31120768
Naik A, Ratra D, Banerjee A, Dalan D, Jandyal S, Rao G, Sen P, Bhende M, Jayaprakash V, Susvar P, Walinjkar J, Rao C
Indian J Ophthalmol 2019 Apr;67(4):523-529. doi: 10.4103/ijo.IJO_1480_18. PMID: 30900587Free PMC Article
Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT
Br J Ophthalmol 2011 Jun;95(6):811-7. Epub 2010 Oct 17 doi: 10.1136/bjo.2010.186882. PMID: 20956273
Lee JM, Seong HK, Nam WH, Kim HK
Korean J Ophthalmol 2007 Dec;21(4):261-4. doi: 10.3341/kjo.2007.21.4.261. PMID: 18063894Free PMC Article

Clinical prediction guides

Jean-Charles A, Merle H, Audo I, Desoudin C, Bocquet B, Baudoin C, Sidibe M, Mauget-Faÿsse M, Wolff B, Fichard A, Lenaers G, Sahel JA, Gaudric A, Cohen SY, Hamel CP, Meunier I
Ophthalmology 2016 Oct;123(10):2196-204. Epub 2016 Jul 26 doi: 10.1016/j.ophtha.2016.06.028. PMID: 27474146
Daruich A, Matet A, Borruat FX
BMC Ophthalmol 2014 Jun 6;14:77. doi: 10.1186/1471-2415-14-77. PMID: 24906873Free PMC Article
Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA
JAMA Ophthalmol 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349. PMID: 23989059Free PMC Article
Tan CS, Heussen F, Sadda SR
Ophthalmology 2013 Jun;120(6):1271-7. Epub 2013 Feb 22 doi: 10.1016/j.ophtha.2012.12.002. PMID: 23433790Free PMC Article
da Silva FT, Hirata CE, Olivalves E, Oyamada MK, Yamamoto JH
Am J Ophthalmol 2009 Dec;148(6):939-45.e3. Epub 2009 Sep 24 doi: 10.1016/j.ajo.2009.06.029. PMID: 19781687

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