Benign concentric annular macular dystrophy(BCAMD, FORMERLY; MCDCA, FORMERLY; RP91)

MedGen UID:: 1794135
•Concept ID:: C5561925
•: Disease or Syndrome

Synonym:	Macular dystrophy, concentric annular
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)

Gene (location): Gene(s) directly associated with this condition or phenotype.	IMPG1 (6q14.1)

Monarch Initiative:	MONDO:0007934
OMIM®:	153870
Orphanet:	ORPHA251287

Definition

Retinitis pigmentosa-91 (R91) is characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy (Olivier et al., 2021). [from OMIM]

Clinical features

From HPO

Macular dystrophy

MedGen UID:: 196451
•Concept ID:: C0730292
•: Disease or Syndrome

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.

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Dyschromatopsia

MedGen UID:: 163559
•Concept ID:: C0858618
•: Disease or Syndrome

A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.

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Foveal hyperpigmentation

MedGen UID:: 815631
•Concept ID:: C3809301
•: Finding

Increased amount of pigmentation in the fovea centralis.

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Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBenign concentric annular macular dystrophy

Isolated macular dystrophy
- Benign concentric annular macular dystrophy

Recent clinical studies

Etiology

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G
J Med Genet 2021 Aug;58(8):570-578. Epub 2020 Aug 17 doi: 10.1136/jmedgenet-2020-107150. PMID: 32817297

A novel dominant CRX mutation causes adult-onset macular dystrophy.

Griffith JF, DeBenedictis MJ, Traboulsi EI
Ophthalmic Genet 2018 Jan-Feb;39(1):120-124. Epub 2017 Sep 25 doi: 10.1080/13816810.2017.1373831. PMID: 28945142

Identification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy models.

Demos C, Bandyopadhyay M, Rohrer B
Mol Vis 2008 Sep 5;14:1639-49. PMID: 18776951 Free PMC Article

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP
Invest Ophthalmol Vis Sci 2004 Jan;45(1):30-5. doi: 10.1167/iovs.03-0392. PMID: 14691150

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Diagnosis

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Heterozygous CRX R90W mutation-associated adult-onset macular dystrophy with phenotype analogous to benign concentric annular macular dystrophy.

Ng CC, Carrera WM, McDonald HR, Agarwal A
Ophthalmic Genet 2020 Oct;41(5):485-490. Epub 2020 Jul 20 doi: 10.1080/13816810.2020.1795890. PMID: 32689858

Multimodal imaging of benign concentric annular macular dystrophy.

Jain A, Anantharaman G, Goyal A, Gopalakrishnan M
Indian J Ophthalmol 2019 Oct;67(10):1719-1720. doi: 10.4103/ijo.IJO_1911_18. PMID: 31546530 Free PMC Article

A novel dominant CRX mutation causes adult-onset macular dystrophy.

Griffith JF, DeBenedictis MJ, Traboulsi EI
Ophthalmic Genet 2018 Jan-Feb;39(1):120-124. Epub 2017 Sep 25 doi: 10.1080/13816810.2017.1373831. PMID: 28945142

Benign concentric annular macular dystrophy.

Deutman AF
Am J Ophthalmol 1974 Sep;78(3):384-96. doi: 10.1016/0002-9394(74)90225-6. PMID: 4412179

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