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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

THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.
Umemura K, Fujita K, Kamei M
Retin Cases Brief Rep 2024 Mar 1;18(2):247-250. doi: 10.1097/ICB.0000000000001368. PMID: 36730824Free 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
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
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

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
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
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.
Kolesnikova M, Lima de Carvalho JR Jr, Parmann R, Kim AH, Mahajan VB, Tsang SH, Sparrow JR
Mol Genet Genomic Med 2022 Nov;10(11):e2038. Epub 2022 Oct 12 doi: 10.1002/mgg3.2038. PMID: 36225124Free PMC Article
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.
Nakamura M, Lin J, Nishiguchi K, Kondo M, Sugita J, Miyake Y
Adv Exp Med Biol 2006;572:49-53. doi: 10.1007/0-387-32442-9_8. PMID: 17249554
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
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
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

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
THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.
Umemura K, Fujita K, Kamei M
Retin Cases Brief Rep 2024 Mar 1;18(2):247-250. doi: 10.1097/ICB.0000000000001368. PMID: 36730824Free PMC Article
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
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
Generalized choroidal sclerosis; course and mode of inheritance.
SORSBY A, DAVEY JB
Br J Ophthalmol 1955 May;39(5):257-76. doi: 10.1136/bjo.39.5.257. PMID: 14378508Free 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
THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.
Umemura K, Fujita K, Kamei M
Retin Cases Brief Rep 2024 Mar 1;18(2):247-250. doi: 10.1097/ICB.0000000000001368. PMID: 36730824Free 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
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
The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study.
Eagle RC Jr, Hedges TR, Yanoff M
Ophthalmology 1982 Dec;89(12):1433-40. doi: 10.1016/s0161-6420(82)34619-9. PMID: 7162786

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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