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Fundus pulverulentus

MedGen UID:
1669231
•Concept ID:
C4749286
•
Disease or Syndrome
Synonym: fundus pulverulentus
SNOMED CT: Fundus pulverulentus (770437002)
 
Monarch Initiative: MONDO:0020383
Orphanet: ORPHA99004

Definition

A rare form of patterned dystrophy of the retinal pigment epithelium characterised by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularisation has been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFundus pulverulentus

Recent clinical studies

Etiology

Pattern Dystrophy.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:91-96. doi: 10.1007/978-3-319-95046-4_17. PMID: 30578490
Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
Ebran JM, Martin L, Leftheriotis, Navasiolava N, Ferre M, Milea D, Leruez S
Graefes Arch Clin Exp Ophthalmol 2018 Apr;256(4):699-707. Epub 2018 Feb 26 doi: 10.1007/s00417-018-3937-5. PMID: 29480367
Multimodal imaging in deferoxamine retinopathy.
Viola F, Barteselli G, DellʼArti L, Vezzola D, Mapelli C, Villani E, Ratiglia R
Retina 2014 Jul;34(7):1428-38. doi: 10.1097/IAE.0000000000000073. PMID: 24378427

Diagnosis

Multimodal Imaging in a Case of Fundus Pulverulentus.
Roy R, Saurabh K, Shah D
Retina 2018 Jul;38(7):e55-e58. doi: 10.1097/IAE.0000000000002213. PMID: 29746410
Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
Ebran JM, Martin L, Leftheriotis, Navasiolava N, Ferre M, Milea D, Leruez S
Graefes Arch Clin Exp Ophthalmol 2018 Apr;256(4):699-707. Epub 2018 Feb 26 doi: 10.1007/s00417-018-3937-5. PMID: 29480367
Multimodal imaging in deferoxamine retinopathy.
Viola F, Barteselli G, DellʼArti L, Vezzola D, Mapelli C, Villani E, Ratiglia R
Retina 2014 Jul;34(7):1428-38. doi: 10.1097/IAE.0000000000000073. PMID: 24378427
Spectrum of pattern dystrophy in pseudoxanthoma elasticum.
Agarwal A, Patel P, Adkins T, Gass JD
Arch Ophthalmol 2005 Jul;123(7):923-8. doi: 10.1001/archopht.123.7.923. PMID: 16009832
Pigment epithelial pattern dystrophy. Four different manifestations in a family.
de Jong PT, Delleman JW
Arch Ophthalmol 1982 Sep;100(9):1416-21. doi: 10.1001/archopht.1982.01030040394003. PMID: 7115165

Therapy

Multimodal imaging in deferoxamine retinopathy.
Viola F, Barteselli G, DellʼArti L, Vezzola D, Mapelli C, Villani E, Ratiglia R
Retina 2014 Jul;34(7):1428-38. doi: 10.1097/IAE.0000000000000073. PMID: 24378427
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
Vaclavik V, Tran HV, Gaillard MC, Schorderet DF, Munier FL
Retina 2012 Oct;32(9):1942-9. doi: 10.1097/IAE.0b013e31824b32e4. PMID: 22466463

Prognosis

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
Ebran JM, Martin L, Leftheriotis, Navasiolava N, Ferre M, Milea D, Leruez S
Graefes Arch Clin Exp Ophthalmol 2018 Apr;256(4):699-707. Epub 2018 Feb 26 doi: 10.1007/s00417-018-3937-5. PMID: 29480367
Multimodal imaging in deferoxamine retinopathy.
Viola F, Barteselli G, DellʼArti L, Vezzola D, Mapelli C, Villani E, Ratiglia R
Retina 2014 Jul;34(7):1428-38. doi: 10.1097/IAE.0000000000000073. PMID: 24378427

Clinical prediction guides

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.
Ebran JM, Martin L, Leftheriotis, Navasiolava N, Ferre M, Milea D, Leruez S
Graefes Arch Clin Exp Ophthalmol 2018 Apr;256(4):699-707. Epub 2018 Feb 26 doi: 10.1007/s00417-018-3937-5. PMID: 29480367
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
Vaclavik V, Tran HV, Gaillard MC, Schorderet DF, Munier FL
Retina 2012 Oct;32(9):1942-9. doi: 10.1097/IAE.0b013e31824b32e4. PMID: 22466463

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