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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.
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
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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

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
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
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
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

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
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
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
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

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
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

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
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
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

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
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
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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