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Patchy atrophy of the retinal pigment epithelium

MedGen UID:
870356
Concept ID:
C4024800
Finding
HPO: HP:0007791

Definition

Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatchy atrophy of the retinal pigment epithelium

Conditions with this feature

Exudative vitreoretinopathy 6
MedGen UID:
902559
Concept ID:
C4225316
Disease or Syndrome
Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition. \n\nThe signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. Other people with this condition develop abnormal vessels that leak. This  causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). The resulting retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.\n\nSome people with familial exudative vitreoretinopathy also have a condition known as osteoporosis-pseudoglioma syndrome, which is characterized by reduced bone density. People with this condition have weakened bones and an increased risk of fractures.

Recent clinical studies

Etiology

Hady SK, Xie S, Freund KB, Cunningham ET Jr, Wong CW, Cheung CMG, Kamoi K, Igarashi-Yokoi T, Ali OM, Wasfi EI, Rateb MF, Ohno-Matsui K
Retina 2022 Apr 1;42(4):669-678. doi: 10.1097/IAE.0000000000003383. PMID: 34934033
Faure C, Chassery M, Ores R, Audo I
Ocul Immunol Inflamm 2022 Oct-Nov;30(7-8):1625-1632. Epub 2021 Jul 13 doi: 10.1080/09273948.2021.1927117. PMID: 34255599
Harimoto A, Obata R, Yamamoto M, Aoki N, Yamanari M, Sugiyama S, Kitano M, Fujita A, Minami T, Ueda K, Azuma K, Inoue T, Aihara M, Kato S
Br J Ophthalmol 2022 Oct;106(10):1457-1462. Epub 2021 May 6 doi: 10.1136/bjophthalmol-2021-318890. PMID: 33958321
Du R, Fang Y, Jonas JB, Yokoi T, Takahashi H, Uramoto K, Kamoi K, Yoshida T, Ohno-Matsui K
Retina 2020 May;40(5):951-959. doi: 10.1097/IAE.0000000000002575. PMID: 31166247
Marchese A, Carnevali A, Sacconi R, Centoducati T, Querques L, Bandello F, Querques G
Am J Ophthalmol 2017 Oct;182:56-61. Epub 2017 Jul 20 doi: 10.1016/j.ajo.2017.07.013. PMID: 28734810

Diagnosis

Hady SK, Xie S, Freund KB, Cunningham ET Jr, Wong CW, Cheung CMG, Kamoi K, Igarashi-Yokoi T, Ali OM, Wasfi EI, Rateb MF, Ohno-Matsui K
Retina 2022 Apr 1;42(4):669-678. doi: 10.1097/IAE.0000000000003383. PMID: 34934033
Harimoto A, Obata R, Yamamoto M, Aoki N, Yamanari M, Sugiyama S, Kitano M, Fujita A, Minami T, Ueda K, Azuma K, Inoue T, Aihara M, Kato S
Br J Ophthalmol 2022 Oct;106(10):1457-1462. Epub 2021 May 6 doi: 10.1136/bjophthalmol-2021-318890. PMID: 33958321
Du R, Fang Y, Jonas JB, Yokoi T, Takahashi H, Uramoto K, Kamoi K, Yoshida T, Ohno-Matsui K
Retina 2020 May;40(5):951-959. doi: 10.1097/IAE.0000000000002575. PMID: 31166247
Tanaka K, Lee W, Zernant J, Schuerch K, Ciccone L, Tsang SH, Sparrow JR, Allikmets R
Ophthalmology 2018 Jan;125(1):89-99. Epub 2017 Sep 22 doi: 10.1016/j.ophtha.2017.07.019. PMID: 28947085Free PMC Article
Marchese A, Carnevali A, Sacconi R, Centoducati T, Querques L, Bandello F, Querques G
Am J Ophthalmol 2017 Oct;182:56-61. Epub 2017 Jul 20 doi: 10.1016/j.ajo.2017.07.013. PMID: 28734810

Therapy

Anjou M, Rothschild PR, Bernabei F, Azan F, Brezin AP, Lehmann M
Retin Cases Brief Rep 2024 Jan 1;18(1):124-128. doi: 10.1097/ICB.0000000000001331. PMID: 36007253
Yonekawa Y, Shildkrot Y, Eliott D
Ophthalmic Surg Lasers Imaging Retina 2013 Mar-Apr;44(2):190-2. doi: 10.3928/23258160-20130313-11. PMID: 23510044
Ayata A, Dogru S, Senol MG, Unal M, Ersanli D, Bilge AH
Eur J Ophthalmol 2009 Nov-Dec;19(6):1094-7. doi: 10.1177/112067210901900636. PMID: 19882556
Marmor MF
Br J Ophthalmol 1990 Dec;74(12):739-42. doi: 10.1136/bjo.74.12.739. PMID: 2275937Free PMC Article

Prognosis

Faure C, Chassery M, Ores R, Audo I
Ocul Immunol Inflamm 2022 Oct-Nov;30(7-8):1625-1632. Epub 2021 Jul 13 doi: 10.1080/09273948.2021.1927117. PMID: 34255599
Du R, Fang Y, Jonas JB, Yokoi T, Takahashi H, Uramoto K, Kamoi K, Yoshida T, Ohno-Matsui K
Retina 2020 May;40(5):951-959. doi: 10.1097/IAE.0000000000002575. PMID: 31166247
Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH
Am J Ophthalmol 2019 Nov;207:77-86. Epub 2019 Jun 8 doi: 10.1016/j.ajo.2019.06.002. PMID: 31181178Free PMC Article
Miere A, Capuano V, Serra R, Jung C, Souied E, Querques G
Retina 2018 Jul;38(7):1301-1306. doi: 10.1097/IAE.0000000000001733. PMID: 28574923
Couturier A, Brézin AP
Curr Opin Ophthalmol 2016 Nov;27(6):505-513. doi: 10.1097/ICU.0000000000000306. PMID: 27606815

Clinical prediction guides

Hady SK, Xie S, Freund KB, Cunningham ET Jr, Wong CW, Cheung CMG, Kamoi K, Igarashi-Yokoi T, Ali OM, Wasfi EI, Rateb MF, Ohno-Matsui K
Retina 2022 Apr 1;42(4):669-678. doi: 10.1097/IAE.0000000000003383. PMID: 34934033
Faure C, Chassery M, Ores R, Audo I
Ocul Immunol Inflamm 2022 Oct-Nov;30(7-8):1625-1632. Epub 2021 Jul 13 doi: 10.1080/09273948.2021.1927117. PMID: 34255599
Du R, Fang Y, Jonas JB, Yokoi T, Takahashi H, Uramoto K, Kamoi K, Yoshida T, Ohno-Matsui K
Retina 2020 May;40(5):951-959. doi: 10.1097/IAE.0000000000002575. PMID: 31166247
Marchese A, Carnevali A, Sacconi R, Centoducati T, Querques L, Bandello F, Querques G
Am J Ophthalmol 2017 Oct;182:56-61. Epub 2017 Jul 20 doi: 10.1016/j.ajo.2017.07.013. PMID: 28734810
Couturier A, Brézin AP
Curr Opin Ophthalmol 2016 Nov;27(6):505-513. doi: 10.1097/ICU.0000000000000306. PMID: 27606815

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