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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.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
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.

Professional guidelines

PubMed

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

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
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
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
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
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Diagnosis

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
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
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
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
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Therapy

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
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
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
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
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Prognosis

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
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
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
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
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

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
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
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
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
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

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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