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Central areolar choroidal dystrophy(CACD)

MedGen UID:: 283932
•Concept ID:: C1536451
•: Disease or Syndrome

Synonyms:	Central areolar choroidal sclerosis; Choroidal dystrophy central areolar; Choroidal Dystrophy, Central Areolar
SNOMED CT:	Central areolar choroidal dystrophy (231996009); Central areolar choroidal sclerosis (231996009)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008982
OMIM®:	215500
OMIM® Phenotypic series:	PS215500
Orphanet:	ORPHA75377

Definition

A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCentral areolar choroidal dystrophy

Isolated macular dystrophy
- Central areolar choroidal dystrophy

Professional guidelines

PubMed

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.

Buhler VMM, Berger L, Schaller A, Zinkernagel MS, Wolf S, Escher P
Genes (Basel) 2021 May 26;12(6) doi: 10.3390/genes12060812. PMID: 34073554 Free PMC Article

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E, Geerlings MJ, Pauper M, Corominas J, Bakker B, Altay L, Fauser S, de Jong EK, Hoyng CB, den Hollander AI
Clin Genet 2018 Dec;94(6):569-574. Epub 2018 Oct 15 doi: 10.1111/cge.13447. PMID: 30215852 Free PMC Article

See all (2)

Recent clinical studies

Etiology

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK
Invest Ophthalmol Vis Sci 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. PMID: 38743414 Free PMC Article

Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.

Ruiz-Pastor MJ, Sánchez-Sáez X, Kutsyr O, Albertos-Arranz H, Sánchez-Castillo C, Ortuño-Lizarán I, Martínez-Gil N, Vidal-Gil L, Méndez L, Sánchez-Martín M, Maneu V, Lax P, Cuenca N
Cell Death Dis 2023 Nov 1;14(11):711. doi: 10.1038/s41419-023-06243-8. PMID: 37914688 Free PMC Article

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S
Hum Mutat 2020 Sep;41(9):1514-1527. Epub 2020 Jun 29 doi: 10.1002/humu.24064. PMID: 32531858

Foveal Sparing in Central Retinal Dystrophies.

Bax NM, Valkenburg D, Lambertus S, Klevering BJ, Boon CJF, Holz FG, Cremers FPM, Fleckenstein M, Hoyng CB, Lindner M; Foveal Sparing Atrophy Study Team (FAST)
Invest Ophthalmol Vis Sci 2019 Aug 1;60(10):3456-3467. doi: 10.1167/iovs.18-26533. PMID: 31398255

Central areolar choroidal dystrophy.

Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB
Ophthalmology 2009 Apr;116(4):771-82, 782.e1. Epub 2009 Feb 25 doi: 10.1016/j.ophtha.2008.12.019. PMID: 19243827

See all (13)

Diagnosis

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.

Yanagihashi S, Nakazawa M, Kurotaki J, Sato M, Miyagawa Y, Ohguro H
Arch Ophthalmol 2003 Oct;121(10):1458-61. doi: 10.1001/archopht.121.10.1458. PMID: 14557183

The retina: genetic studies of several retinopathies located on the short arm of chromosome 17.

Joshi AR, Mullen L, Small KW
Curr Opin Neurol 1997 Feb;10(1):31-5. PMID: 9099524

Central areolar choroidal dystrophy.

Noble KG
Am J Ophthalmol 1977 Sep;84(3):310-8. doi: 10.1016/0002-9394(77)90670-5. PMID: 900227

CENTRAL AREOLAR CHOROIDAL DYSTROPHY.

CARR RE
Arch Ophthalmol 1965 Jan;73:32-5. doi: 10.1001/archopht.1965.00970030034008. PMID: 14220602

See all (33)

Therapy

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

See all (1)

Prognosis

Foveal Sparing in Central Retinal Dystrophies.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.

Chen X, Sheng X, Zhuang W, Sun X, Liu G, Shi X, Huang G, Mei Y, Li Y, Pan X, Liu Y, Li Z, Zhao Q, Yan B, Zhao C
Genet Med 2017 Aug;19(8):945-954. Epub 2017 Jan 26 doi: 10.1038/gim.2016.217. PMID: 28125083 Free 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

Central areolar choroidal dystrophy.

Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.

Keilhauer CN, Meigen T, Weber BH
Arch Ophthalmol 2006 Jul;124(7):1020-7. doi: 10.1001/archopht.124.7.1020. PMID: 16832026

See all (13)