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Choroidal dystrophy, central areolar 2(CACD2)

MedGen UID:
442696
Concept ID:
C2751290
Disease or Syndrome
Synonyms: CACD2; Choriodal Dystrophy, Central Areolar 2; MACULAR DYSTROPHY, PROGRESSIVE
 
Gene (location): PRPH2 (6p21.1)
 
Monarch Initiative: MONDO:0013137
OMIM®: 613105

Definition

Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009). For a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 (215500). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.

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
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
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
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
Choi H, Cloutier A, Lally D
Ophthalmic Genet 2022 Apr;43(2):235-239. Epub 2021 Dec 14 doi: 10.1080/13816810.2021.2015790. PMID: 34906036
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

Cheloni R, Clough N, Jackson D, Moosajee M
Eye (Lond) 2024 Apr;38(5):853-862. Epub 2023 Oct 28 doi: 10.1038/s41433-023-02791-7. PMID: 37898718Free PMC Article
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
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

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
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
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
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

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
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
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
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

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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