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Macular dystrophy with central cone involvement(CCMD)

MedGen UID:
863808
Concept ID:
C4015371
Disease or Syndrome
Synonym: CCMD
 
Gene (location): MFSD8 (4q28.2)
 
Monarch Initiative: MONDO:0014515
OMIM®: 616170

Clinical features

From HPO
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Red-green dyschromatopsia
MedGen UID:
102324
Concept ID:
C0155016
Disease or Syndrome
Difficulty with discriminating red and green hues.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
Concept ID:
C4073099
Finding

Professional guidelines

PubMed

Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Szeto SK, Hui VWK, Tang FY, Yang D, Sun ZH, Mohamed S, Chan CKM, Lai TYY, Cheung C
Br J Ophthalmol 2023 Apr;107(4):525-533. Epub 2021 Nov 8 doi: 10.1136/bjophthalmol-2021-319587. PMID: 34750100
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article

Recent clinical studies

Etiology

Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M
Ophthalmol Retina 2023 Oct;7(10):918-931. Epub 2023 Jun 17 doi: 10.1016/j.oret.2023.06.007. PMID: 37331655Free PMC Article
Josan AS, Farrance I, Taylor LJ, Adeyoju D, Buckley TMW, Jolly JK, MacLaren RE
Transl Vis Sci Technol 2023 May 1;12(5):21. doi: 10.1167/tvst.12.5.21. PMID: 37219509Free PMC Article
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M
Ophthalmol Retina 2023 Oct;7(10):918-931. Epub 2023 Jun 17 doi: 10.1016/j.oret.2023.06.007. PMID: 37331655Free PMC Article
Josan AS, Farrance I, Taylor LJ, Adeyoju D, Buckley TMW, Jolly JK, MacLaren RE
Transl Vis Sci Technol 2023 May 1;12(5):21. doi: 10.1167/tvst.12.5.21. PMID: 37219509Free PMC Article
Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Kim KT, Chae JB, Lee S, Seo EJ, Kim DY
BMC Ophthalmol 2021 Aug 10;21(1):294. doi: 10.1186/s12886-021-02063-6. PMID: 34376158Free PMC Article
Keenan TD, Agrón E, Domalpally A, Clemons TE, van Asten F, Wong WT, Danis RG, Sadda S, Rosenfeld PJ, Klein ML, Ratnapriya R, Swaroop A, Ferris FL 3rd, Chew EY; AREDS2 Research Group
Ophthalmology 2018 Dec;125(12):1913-1928. Epub 2018 Jul 27 doi: 10.1016/j.ophtha.2018.05.028. PMID: 30060980Free PMC Article

Prognosis

Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Szeto SK, Hui VWK, Tang FY, Yang D, Sun ZH, Mohamed S, Chan CKM, Lai TYY, Cheung C
Br J Ophthalmol 2023 Apr;107(4):525-533. Epub 2021 Nov 8 doi: 10.1136/bjophthalmol-2021-319587. PMID: 34750100
Zhao Y, Coussa RG, DeBenedictis MJM, Traboulsi EI
Ophthalmic Genet 2019 Oct;40(5):455-460. Epub 2019 Sep 26 doi: 10.1080/13816810.2019.1666880. PMID: 31556760
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Singh SR, Vaidya H, Borrelli E, Chhablani J
Surv Ophthalmol 2023 Jul-Aug;68(4):655-668. Epub 2023 Mar 18 doi: 10.1016/j.survophthal.2023.03.003. PMID: 36934831
Szeto SK, Hui VWK, Tang FY, Yang D, Sun ZH, Mohamed S, Chan CKM, Lai TYY, Cheung C
Br J Ophthalmol 2023 Apr;107(4):525-533. Epub 2021 Nov 8 doi: 10.1136/bjophthalmol-2021-319587. PMID: 34750100
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
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE
JAMA Netw Open 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. PMID: 31199449Free PMC Article
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM
J Inherit Metab Dis 2015 Jan;38(1):19-40. Epub 2014 Nov 21 doi: 10.1007/s10545-014-9776-6. PMID: 25413954

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