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Pigmented paravenous retinochoroidal atrophy(PPCRA)

MedGen UID:
401413
•Concept ID:
C1868310
•
Disease or Syndrome
Synonym: Pigmented paravenous chorioretinal atrophy
SNOMED CT: Pigmented paravenous retinochoroidal atrophy (723450004); Pigmented paravenous chorioretinal atrophy (723450004); PPRCA - pigmented paravenous retinochoroidal atrophy (723450004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Gene (location): CRB1 (1q31.3)
 
Monarch Initiative: MONDO:0008246
OMIM®: 172870
Orphanet: ORPHA251295

Definition

Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by Traboulsi and Maumenee, 1986). [from OMIM]

Clinical features

From HPO
Esotropia
MedGen UID:
4550
•Concept ID:
C0014877
•
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
See: Feature record | Search on this feature
Hypermetropia
MedGen UID:
43780
•Concept ID:
C0020490
•
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
See: Feature record | Search on this feature
Vitreoretinopathy
MedGen UID:
87480
•Concept ID:
C0344290
•
Disease or Syndrome
Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.
See: Feature record | Search on this feature
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Paravenous chorioretinal atrophy
MedGen UID:
893102
•Concept ID:
C4072868
•
Disease or Syndrome
Chorioretinal atrophy along the retinal veins.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Use of Wide-Field Fundus Camera, Fundus Autofluorescence, and OCT in Cases of Pigmented Paravenous Retinochoroidal Atrophy.
Takagi S, Hirami Y, Takahashi M, Yamamoto S, Goto S, Yamamoto M, Fujihara M, Tomita G, Kurimoto Y
Ophthalmol Retina 2018 Jan;2(1):79-81. Epub 2017 Jul 26 doi: 10.1016/j.oret.2017.05.004. PMID: 31047313
Natural course of ocular function in pigmented paravenous retinochoroidal atrophy.
Choi JY, Sandberg MA, Berson EL
Am J Ophthalmol 2006 Apr;141(4):763-5. doi: 10.1016/j.ajo.2005.11.009. PMID: 16564825
Indocyanine green angiography in pigmented paravenous retinochoroidal atrophy.
Yanagi Y, Okajima O, Mori M
Acta Ophthalmol Scand 2003 Feb;81(1):60-7. doi: 10.1034/j.1600-0420.2003.00003.x. PMID: 12631022
Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight.
Murray AT, Kirkby GR
Eye (Lond) 2000 Oct;14 Pt 5:711-6. doi: 10.1038/eye.2000.189. PMID: 11116690

Diagnosis

Unifocal and unilateral pigmented paravenous retinochoroidal atrophy.
Castaño Silos JC, Sanchez-Guillen I, Almorín-Fernández-Vigo I, Jerez Fidalgo M, Fernández-Vigo JI
Arch Soc Esp Oftalmol (Engl Ed) 2023 Apr;98(4):233-237. Epub 2023 Feb 15 doi: 10.1016/j.oftale.2022.12.003. PMID: 36801254
Pigmented paravenous retinochoroidal atrophy.
Deshmukh S, Das D, Deka H, Bhattacharjee H, Upadhyay A, Gupta K
Indian J Ophthalmol 2019 Feb;67(2):271-273. doi: 10.4103/ijo.IJO_1202_18. PMID: 30672488Free PMC Article
Pigmented paravenous retinochoroidal atrophy: a case report.
Shen Y, Xu X, Cao H
BMC Ophthalmol 2018 Jun 7;18(1):136. doi: 10.1186/s12886-018-0809-z. PMID: 29880028Free PMC Article
Pigmented Paravenous Retinochoroidal Atrophy.
Lenci LT, Parke DW 3rd, Almeida DR
Ophthalmology 2016 Oct;123(10):2112. doi: 10.1016/j.ophtha.2016.04.052. PMID: 27664911
Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight.
Murray AT, Kirkby GR
Eye (Lond) 2000 Oct;14 Pt 5:711-6. doi: 10.1038/eye.2000.189. PMID: 11116690

Therapy

Pigmented paravenous retinochoroidal atrophy associated with unilateral cystoid macular oedema.
Figueiredo R, Morais Sarmento T, Garrido J, Ramalho A
BMJ Case Rep 2019 Aug 10;12(8) doi: 10.1136/bcr-2019-230633. PMID: 31401582Free PMC Article

Prognosis

Unifocal and unilateral pigmented paravenous retinochoroidal atrophy.
Castaño Silos JC, Sanchez-Guillen I, Almorín-Fernández-Vigo I, Jerez Fidalgo M, Fernández-Vigo JI
Arch Soc Esp Oftalmol (Engl Ed) 2023 Apr;98(4):233-237. Epub 2023 Feb 15 doi: 10.1016/j.oftale.2022.12.003. PMID: 36801254
Pigmented Paravenous Retinochoroidal Atrophy: A Case Report Supported by Multimodal Imaging Studies.
Jung I, Lee Y, Kang S, Won J
Medicina (Kaunas) 2021 Dec 19;57(12) doi: 10.3390/medicina57121382. PMID: 34946327Free PMC Article
Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight.
Murray AT, Kirkby GR
Eye (Lond) 2000 Oct;14 Pt 5:711-6. doi: 10.1038/eye.2000.189. PMID: 11116690
Pigmented paravenous retinochoroidal atrophy.
Brooks DN, Potter JW, Bartlett JD, Nowakowski R
J Am Optom Assoc 1980 Dec;51(12):1097-1101. PMID: 7204821
Pigmented paravenous retinochoroidal atrophy.
Miller SA, Stevens TS, Myers F, Nieder M
Ann Ophthalmol 1978 Jul;10(7):867-71. PMID: 677665

Clinical prediction guides

Multimodal Imaging of Pigmented Paravenous Retinochoroidal Atrophy in a Pediatric Patient with Cystoid Macular Edema.
Menteş J, Değirmenci C
Turk J Ophthalmol 2022 Dec 28;52(6):432-435. doi: 10.4274/tjo.galenos.2022.39032. PMID: 36578225Free PMC Article
A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
Oh JK, Nuzbrokh Y, Lee W, Lima de Carvalho JR Jr, Wang NK, Sparrow JR, Allikmets R, Tsang SH
Eur J Ophthalmol 2022 Jan;32(1):NP235-NP239. Epub 2020 Sep 14 doi: 10.1177/1120672120957599. PMID: 32927963Free PMC Article
Pigmented Paravenous Retinochoroidal Atrophy: A Case Report Supported by Multimodal Imaging Studies.
Jung I, Lee Y, Kang S, Won J
Medicina (Kaunas) 2021 Dec 19;57(12) doi: 10.3390/medicina57121382. PMID: 34946327Free PMC Article
Pigmented paravenous retinochoroidal atrophy: a literature review supported by a unique case and insight.
Murray AT, Kirkby GR
Eye (Lond) 2000 Oct;14 Pt 5:711-6. doi: 10.1038/eye.2000.189. PMID: 11116690
Pigmented paravenous retinochoroidal atrophy.
Brooks DN, Potter JW, Bartlett JD, Nowakowski R
J Am Optom Assoc 1980 Dec;51(12):1097-1101. PMID: 7204821

Supplemental Content

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