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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

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
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
Peripapillary and Macular Structural and Vascular Parameters in Age-Related Choroidal Atrophy.
Ucgul Atilgan C, Hondur G, Citirik M
J Glaucoma 2023 Jan 1;32(1):19-26. Epub 2022 Aug 11 doi: 10.1097/IJG.0000000000002102. PMID: 35980842
Retinopathy of prematurity: inflammation, choroidal degeneration, and novel promising therapeutic strategies.
Rivera JC, Holm M, Austeng D, Morken TS, Zhou TE, Beaudry-Richard A, Sierra EM, Dammann O, Chemtob S
J Neuroinflammation 2017 Aug 22;14(1):165. doi: 10.1186/s12974-017-0943-1. PMID: 28830469Free PMC Article
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

Diagnosis

MULTIMODAL RETINAL IMAGING REVEALS NEW PATHOGENIC INSIGHTS IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY: A CASE SERIES.
Romano F, Cozzi E, Boon CJF, Staurenghi G, Salvetti AP
Retin Cases Brief Rep 2024 Jan 1;18(1):32-38. doi: 10.1097/ICB.0000000000001325. PMID: 36731070
Peripapillary and Macular Structural and Vascular Parameters in Age-Related Choroidal Atrophy.
Ucgul Atilgan C, Hondur G, Citirik M
J Glaucoma 2023 Jan 1;32(1):19-26. Epub 2022 Aug 11 doi: 10.1097/IJG.0000000000002102. PMID: 35980842
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
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ
Invest Ophthalmol Vis Sci 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. PMID: 22003107
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

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: 37660736
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
CHOROIDAL NEOVASCULARIZATION AND CHORIORETINAL ATROPHY IN A PATIENT WITH MELANOMA-ASSOCIATED RETINOPATHY AFTER IPILIMUMAB/NIVOLUMAB COMBINATION THERAPY.
Elwood KF, Pulido JS, Ghafoori SD, Harper CA, Wong RW
Retin Cases Brief Rep 2021 Sep 1;15(5):514-518. doi: 10.1097/ICB.0000000000000882. PMID: 31246886
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ
Invest Ophthalmol Vis Sci 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. PMID: 22003107
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

The correlation of atrophy, traction and neovascularization in myopic choroidal neovascularization according to a novel myopic maculopathy classification system (atrophy (A), traction (T), neovascularization (N): ATN).
Kurt RA, Sarıgül Sezenöz A, Akkoyun I, Yılmaz G
Int Ophthalmol 2022 Sep;42(9):2925-2932. Epub 2022 Jul 25 doi: 10.1007/s10792-022-02423-1. PMID: 35876940
Progression in Open-Angle Glaucoma with Myopic Disc and Blood Flow in the Optic Nerve Head and Peripapillary Chorioretinal Atrophy Zone.
Kiyota N, Shiga Y, Takahashi N, Yasuda M, Omodaka K, Tsuda S, Kunikata H, Nakazawa T
Ophthalmol Glaucoma 2020 May-Jun;3(3):202-209. Epub 2020 Mar 23 doi: 10.1016/j.ogla.2020.03.005. PMID: 32672617
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
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE, Meng W, Lotery AJ, Bradley DT
Invest Ophthalmol Vis Sci 2012 Jul 12;53(8):4748-53. doi: 10.1167/iovs.12-10061. PMID: 22695961
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

Clinical prediction guides

Peripapillary and Macular Structural and Vascular Parameters in Age-Related Choroidal Atrophy.
Ucgul Atilgan C, Hondur G, Citirik M
J Glaucoma 2023 Jan 1;32(1):19-26. Epub 2022 Aug 11 doi: 10.1097/IJG.0000000000002102. PMID: 35980842
Progression in Open-Angle Glaucoma with Myopic Disc and Blood Flow in the Optic Nerve Head and Peripapillary Chorioretinal Atrophy Zone.
Kiyota N, Shiga Y, Takahashi N, Yasuda M, Omodaka K, Tsuda S, Kunikata H, Nakazawa T
Ophthalmol Glaucoma 2020 May-Jun;3(3):202-209. Epub 2020 Mar 23 doi: 10.1016/j.ogla.2020.03.005. PMID: 32672617
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
Correlation of choroidal thickness and volume measurements with axial length and age using swept source optical coherence tomography and optical low-coherence reflectometry.
Michalewski J, Michalewska Z, Nawrocka Z, Bednarski M, Nawrocki J
Biomed Res Int 2014;2014:639160. Epub 2014 Jun 12 doi: 10.1155/2014/639160. PMID: 25013793Free PMC Article
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.
Hughes AE, Meng W, Lotery AJ, Bradley DT
Invest Ophthalmol Vis Sci 2012 Jul 12;53(8):4748-53. doi: 10.1167/iovs.12-10061. PMID: 22695961

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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