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Retinal peau d'orange

MedGen UID:
1713761
Concept ID:
C5398025
Finding
HPO: HP:0033027

Definition

A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal peau d'orange

Conditions with this feature

Autosomal recessive inherited pseudoxanthoma elasticum
MedGen UID:
698415
Concept ID:
C1275116
Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
MedGen UID:
332067
Concept ID:
C1835813
Disease or Syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.

Professional guidelines

PubMed

Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I
Clin Exp Optom 2011 Mar;94(2):169-80. Epub 2010 Dec 29 doi: 10.1111/j.1444-0938.2010.00559.x. PMID: 21198842
Verbraak FD
Dev Ophthalmol 2010;46:96-106. Epub 2010 Aug 10 doi: 10.1159/000320012. PMID: 20703035

Recent clinical studies

Etiology

Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R
Graefes Arch Clin Exp Ophthalmol 2021 Apr;259(4):873-882. Epub 2020 Oct 19 doi: 10.1007/s00417-020-04979-z. PMID: 33074374
Mori H, Yamada H, Takahashi K
Graefes Arch Clin Exp Ophthalmol 2020 Sep;258(9):1863-1869. Epub 2020 May 29 doi: 10.1007/s00417-020-04760-2. PMID: 32472199
Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S
Ophthalmic Genet 2019 Jun;40(3):242-246. Epub 2019 Jul 4 doi: 10.1080/13816810.2019.1627466. PMID: 31269855
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article
Shiraki K, Moriwaki M, Matsumoto M, Khono T, Miki T
Int Ophthalmol 1997;21(1):43-50. doi: 10.1023/a:1005898714237. PMID: 9298423

Diagnosis

Cărăuș CV, Spînu AM, Negrii AA
Rom J Ophthalmol 2022 Apr-Jun;66(2):158-163. doi: 10.22336/rjo.2022.31. PMID: 35935090Free PMC Article
Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R
Graefes Arch Clin Exp Ophthalmol 2021 Apr;259(4):873-882. Epub 2020 Oct 19 doi: 10.1007/s00417-020-04979-z. PMID: 33074374
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508
Spaide RF
Retina 2015 Mar;35(3):392-7. doi: 10.1097/IAE.0000000000000420. PMID: 25526100
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I
Clin Exp Optom 2011 Mar;94(2):169-80. Epub 2010 Dec 29 doi: 10.1111/j.1444-0938.2010.00559.x. PMID: 21198842

Therapy

Mori H, Yamada H, Takahashi K
Graefes Arch Clin Exp Ophthalmol 2020 Sep;258(9):1863-1869. Epub 2020 May 29 doi: 10.1007/s00417-020-04760-2. PMID: 32472199
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article
Barteselli G, Dell'arti L, Finger RP, Charbel Issa P, Marcon A, Vezzola D, Mapelli C, Cassinerio E, Cappellini MD, Ratiglia R, Viola F
Ophthalmology 2014 Mar;121(3):709-18. Epub 2013 Dec 4 doi: 10.1016/j.ophtha.2013.10.016. PMID: 24314836
Verbraak FD
Dev Ophthalmol 2010;46:96-106. Epub 2010 Aug 10 doi: 10.1159/000320012. PMID: 20703035

Prognosis

Mori H, Yamada H, Takahashi K
Graefes Arch Clin Exp Ophthalmol 2020 Sep;258(9):1863-1869. Epub 2020 May 29 doi: 10.1007/s00417-020-04760-2. PMID: 32472199
Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S
Ophthalmic Genet 2019 Jun;40(3):242-246. Epub 2019 Jul 4 doi: 10.1080/13816810.2019.1627466. PMID: 31269855
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
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I
Clin Exp Optom 2011 Mar;94(2):169-80. Epub 2010 Dec 29 doi: 10.1111/j.1444-0938.2010.00559.x. PMID: 21198842
Verbraak FD
Dev Ophthalmol 2010;46:96-106. Epub 2010 Aug 10 doi: 10.1159/000320012. PMID: 20703035

Clinical prediction guides

Penas SC, Resende JA, Sousa AR, Carneiro ÂV, Reis FF
BMC Ophthalmol 2022 Sep 5;22(1):359. doi: 10.1186/s12886-022-02566-w. PMID: 36064394Free PMC Article
Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R
Graefes Arch Clin Exp Ophthalmol 2021 Apr;259(4):873-882. Epub 2020 Oct 19 doi: 10.1007/s00417-020-04979-z. PMID: 33074374
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article
Finger RP, Charbel Issa P, Ladewig M, Götting C, Holz FG, Scholl HP
Retina 2009 Nov-Dec;29(10):1496-505. doi: 10.1097/IAE.0b013e3181aade47. PMID: 19823106
Shiraki K, Moriwaki M, Matsumoto M, Khono T, Miki T
Int Ophthalmol 1997;21(1):43-50. doi: 10.1023/a:1005898714237. PMID: 9298423

Recent systematic reviews

Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article

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