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Choroidal dystrophy, central areolar, 1(CACD1)

MedGen UID:
1639900
•Concept ID:
C4551884
•
Disease or Syndrome
Synonym: Choroidal Dystrophy, Central Areolar 1
 
Gene (location): GUCY2D (17p13.1)
 
Monarch Initiative: MONDO:0024539
OMIM®: 215500

Definition

Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. [from MONDO]

Clinical features

From HPO
Choriocapillaris atrophy
MedGen UID:
477389
•Concept ID:
C3275758
•
Finding
Atrophy of the capillary lamina of choroid.
See: Feature record | Search on this feature
Chorioretinal atrophy
MedGen UID:
884881
•Concept ID:
C4048273
•
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
See: Feature record | Search on this feature
Pigmentary retinopathy
MedGen UID:
1643295
•Concept ID:
C4551715
•
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Full-field Scotopic Threshold Improvement after Voretigene Neparvovec-rzyl Treatment Correlates with Chorioretinal Atrophy.
Stingl K, Stingl K, Schwartz H, Reid MW, Kempf M, Dimopoulos S, Kortuem F, Borchert MS, Lee TC, Nagiel A
Ophthalmology 2023 Jul;130(7):764-770. Epub 2023 Feb 21 doi: 10.1016/j.ophtha.2023.02.015. PMID: 36822437Free PMC Article

Recent clinical studies

Etiology

TEN-YEAR VISUAL OUTCOME AND CHANGE IN CHORIORETINAL ATROPHY AFTER INTRAVITREAL RANIBIZUMAB FOR MACULAR NEOVASCULARIZATION IN PATHOLOGIC MYOPIA.
Sakata R, Miyata M, Ooto S, Tamura H, Ueda-Arakawa N, Muraoka Y, Miyake M, Hata M, Takahashi A, Kido A, Numa S, Mori Y, Tsuda K, Uji A, Oishi A, Tsujikawa A
Retina 2023 Nov 1;43(11):1863-1871. doi: 10.1097/IAE.0000000000003869. PMID: 37339449
Solar retinopathy in India: Clinical presentation and demographic distribution in 253 patients (349 eyes).
Das AV, Tyagi M, Kadam Y, Belenje A
Indian J Ophthalmol 2023 May;71(5):2061-2065. doi: 10.4103/IJO.IJO_2620_22. PMID: 37203081Free PMC Article
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Sengillo JD, Lee W, Bilancia CG, Jobanputra V, Tsang SH
Doc Ophthalmol 2018 Apr;136(2):125-133. Epub 2018 Feb 6 doi: 10.1007/s10633-018-9626-1. PMID: 29411205Free PMC Article
Vascular concepts in glaucoma.
Geijssen HC, Greve EL
Curr Opin Ophthalmol 1995 Apr;6(2):71-7. doi: 10.1097/00055735-199504000-00012. PMID: 10150861
Evolution of angioid streaks.
Mansour AM, Ansari NH, Shields JA, Annesley WH Jr, Cronin CM, Stock EL
Ophthalmologica 1993;207(2):57-61. doi: 10.1159/000310407. PMID: 8272342

Diagnosis

A Unique Presentation of Bilateral Chorioretinal Atrophy.
Grosso A, Yannuzzi LA, Tsang SH, Ceruti P, Sarraf D, Zamir E, Kaminska K, Quinodoz M, Amoroso A, Deaglio S, Francis JH, Fioretto M, Rivolta C, Calzetti G
Asia Pac J Ophthalmol (Phila) 2023 Sep-Oct 01;12(5):500-501. Epub 2022 Oct 28 doi: 10.1097/APO.0000000000000563. PMID: 36650090
Deferoxamine-induced electronegative ERG responses.
Jauregui R, Park KS, Bassuk AG, Mahajan VB, Tsang SH
Doc Ophthalmol 2018 Aug;137(1):15-23. Epub 2018 May 16 doi: 10.1007/s10633-018-9640-3. PMID: 29770904
Outer Retinal Tubulation: A Case Series.
Rousso LA, Rodman JA, Sutton B, Shechtman DL
Optom Vis Sci 2017 Mar;94(3):423-431. doi: 10.1097/OPX.0000000000001056. PMID: 28225373
Ocular manifestations of various systemic disorders.
Mansour AM
Curr Opin Ophthalmol 1994 Dec;5(6):105-9. doi: 10.1097/00055735-199412000-00017. PMID: 10150822
Sex-linked chorioretinal heredodegenerations.
François J
Birth Defects Orig Artic Ser 1971 Mar;7(3):99-116. PMID: 4950918

Therapy

Classification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration.
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: 37660736Free PMC Article
Pathogenesis of myopic choroidal neovascularization: A systematic review and meta-analysis.
Zhang XJ, Chen XN, Tang FY, Szeto S, Ling XT, Lin ZX, Tham CC, Pang CP, Chen LJ, Yam JC
Surv Ophthalmol 2023 Nov-Dec;68(6):1011-1026. Epub 2023 Jul 28 doi: 10.1016/j.survophthal.2023.07.006. PMID: 37517683
TEN-YEAR VISUAL OUTCOME AND CHANGE IN CHORIORETINAL ATROPHY AFTER INTRAVITREAL RANIBIZUMAB FOR MACULAR NEOVASCULARIZATION IN PATHOLOGIC MYOPIA.
Sakata R, Miyata M, Ooto S, Tamura H, Ueda-Arakawa N, Muraoka Y, Miyake M, Hata M, Takahashi A, Kido A, Numa S, Mori Y, Tsuda K, Uji A, Oishi A, Tsujikawa A
Retina 2023 Nov 1;43(11):1863-1871. doi: 10.1097/IAE.0000000000003869. PMID: 37339449
Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.
Navarrete A, Matanis-Suidan M, Hemo I, Mechoulam H, Banin E, Amer R
Ocul Immunol Inflamm 2023 Feb;31(2):455-461. Epub 2022 Feb 3 doi: 10.1080/09273948.2022.2028290. PMID: 35113758
Retinitis pigmentosa inversa.
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Prognosis

Chorioretinal Atrophy Growth After Voretigene Neparvovec Retinotopically Is Connected to Retinal Functional Rescue.
Stingl K, Kempf M, Jung R, Stingl K
Transl Vis Sci Technol 2024 Feb 1;13(2):13. doi: 10.1167/tvst.13.2.13. PMID: 38376864Free PMC Article
TEN-YEAR VISUAL OUTCOME AND CHANGE IN CHORIORETINAL ATROPHY AFTER INTRAVITREAL RANIBIZUMAB FOR MACULAR NEOVASCULARIZATION IN PATHOLOGIC MYOPIA.
Sakata R, Miyata M, Ooto S, Tamura H, Ueda-Arakawa N, Muraoka Y, Miyake M, Hata M, Takahashi A, Kido A, Numa S, Mori Y, Tsuda K, Uji A, Oishi A, Tsujikawa A
Retina 2023 Nov 1;43(11):1863-1871. doi: 10.1097/IAE.0000000000003869. PMID: 37339449
Chorioretinal Atrophy in Punctate Inner Choroidopathy/multifocal Choroiditis: A Five-year Follow-up Study.
Chen YC, Chen YL, Chen SN
Ocul Immunol Inflamm 2022 Feb 17;30(2):270-275. Epub 2021 Mar 8 doi: 10.1080/09273948.2020.1869269. PMID: 33684021
CHARACTERISTICS OF PERIPAPILLARY INTRACHOROIDAL CAVITATION IN HIGHLY MYOPIC EYES: The Zhongshan Ophthalmic Center-Brien Holden Vision Institute High Myopia Cohort Study.
Liu R, Li Z, Xiao O, Zhang J, Guo X, Loong Lee JT, Wang D, Lee P, Jong M, Sankaridurg P, He M
Retina 2021 May 1;41(5):1057-1062. doi: 10.1097/IAE.0000000000002963. PMID: 32833786
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Sengillo JD, Lee W, Bilancia CG, Jobanputra V, Tsang SH
Doc Ophthalmol 2018 Apr;136(2):125-133. Epub 2018 Feb 6 doi: 10.1007/s10633-018-9626-1. PMID: 29411205Free PMC Article

Clinical prediction guides

Chorioretinal Atrophy Growth After Voretigene Neparvovec Retinotopically Is Connected to Retinal Functional Rescue.
Stingl K, Kempf M, Jung R, Stingl K
Transl Vis Sci Technol 2024 Feb 1;13(2):13. doi: 10.1167/tvst.13.2.13. PMID: 38376864Free PMC Article
TEN-YEAR VISUAL OUTCOME AND CHANGE IN CHORIORETINAL ATROPHY AFTER INTRAVITREAL RANIBIZUMAB FOR MACULAR NEOVASCULARIZATION IN PATHOLOGIC MYOPIA.
Sakata R, Miyata M, Ooto S, Tamura H, Ueda-Arakawa N, Muraoka Y, Miyake M, Hata M, Takahashi A, Kido A, Numa S, Mori Y, Tsuda K, Uji A, Oishi A, Tsujikawa A
Retina 2023 Nov 1;43(11):1863-1871. doi: 10.1097/IAE.0000000000003869. PMID: 37339449
Retinal pigment epithelium melanin distribution estimated by polarisation entropy and its association with retinal sensitivity in patients with high myopia.
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
Deferoxamine-induced electronegative ERG responses.
Jauregui R, Park KS, Bassuk AG, Mahajan VB, Tsang SH
Doc Ophthalmol 2018 Aug;137(1):15-23. Epub 2018 May 16 doi: 10.1007/s10633-018-9640-3. PMID: 29770904
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Sengillo JD, Lee W, Bilancia CG, Jobanputra V, Tsang SH
Doc Ophthalmol 2018 Apr;136(2):125-133. Epub 2018 Feb 6 doi: 10.1007/s10633-018-9626-1. PMID: 29411205Free PMC Article

Recent systematic reviews

Pathogenesis of myopic choroidal neovascularization: A systematic review and meta-analysis.
Zhang XJ, Chen XN, Tang FY, Szeto S, Ling XT, Lin ZX, Tham CC, Pang CP, Chen LJ, Yam JC
Surv Ophthalmol 2023 Nov-Dec;68(6):1011-1026. Epub 2023 Jul 28 doi: 10.1016/j.survophthal.2023.07.006. PMID: 37517683

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