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Macular dystrophy with or without cone dysfunction(MDCD)

MedGen UID:
1853300
•Concept ID:
C5935594
•
Disease or Syndrome
Synonym: MDCD
 
Gene (location): SAMD7 (3q26.2)
 
Monarch Initiative: MONDO:0958326
OMIM®: 620762

Definition

Macular dystrophy with or without cone dysfunction (MDCD) is a progressive autosomal recessive disorder characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction (Bauwens et al., 2024). [from OMIM]

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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Temporal optic disc pallor
MedGen UID:
576209
•Concept ID:
C0344299
•
Disease or Syndrome
A pale yellow discoloration of the temporal (lateral) portion of the optic disc.
See: Feature record | Search on this feature
Macular atrophy
MedGen UID:
140841
•Concept ID:
C0423421
•
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Retinal pigment epithelial atrophy
MedGen UID:
333564
•Concept ID:
C1840457
•
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
See: Feature record | Search on this feature
Hypoautofluorescent retinal lesion
MedGen UID:
1369889
•Concept ID:
C4476624
•
Finding
Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
See: Feature record | Search on this feature

Professional guidelines

PubMed

2022 Society of Critical Care Medicine Clinical Practice Guidelines on Prevention and Management of Pain, Agitation, Neuromuscular Blockade, and Delirium in Critically Ill Pediatric Patients With Consideration of the ICU Environment and Early Mobility.
Smith HAB, Besunder JB, Betters KA, Johnson PN, Srinivasan V, Stormorken A, Farrington E, Golianu B, Godshall AJ, Acinelli L, Almgren C, Bailey CH, Boyd JM, Cisco MJ, Damian M, deAlmeida ML, Fehr J, Fenton KE, Gilliland F, Grant MJC, Howell J, Ruggles CA, Simone S, Su F, Sullivan JE, Tegtmeyer K, Traube C, Williams S, Berkenbosch JW
Pediatr Crit Care Med 2022 Feb 1;23(2):e74-e110. doi: 10.1097/PCC.0000000000002873. PMID: 35119438
Age-Related Macular Degeneration: Pathophysiology, Management, and Future Perspectives.
Flores R, Carneiro Â, Vieira M, Tenreiro S, Seabra MC
Ophthalmologica 2021;244(6):495-511. Epub 2021 Jun 15 doi: 10.1159/000517520. PMID: 34130290
The Diagnosis and Treatment of Age-Related Macular Degeneration.
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article

Recent clinical studies

Etiology

Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
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
Age-related macular degeneration.
Lim LS, Mitchell P, Seddon JM, Holz FG, Wong TY
Lancet 2012 May 5;379(9827):1728-38. doi: 10.1016/S0140-6736(12)60282-7. PMID: 22559899

Diagnosis

Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M
Br J Ophthalmol 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. PMID: 37940365Free PMC Article
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Stargardt disease masquerades.
Ricca AM, Han IC, Sohn EH
Curr Opin Ophthalmol 2021 May 1;32(3):214-224. doi: 10.1097/ICU.0000000000000750. PMID: 33653979
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Best's macular dystrophy.
Youssri AI, Miller JW
Int Ophthalmol Clin 2001 Fall;41(4):165-71. doi: 10.1097/00004397-200110000-00015. PMID: 11698745

Therapy

Treatment of dry age-related macular degeneration: A review.
Girgis S, Lee LR
Clin Exp Ophthalmol 2023 Nov;51(8):835-852. Epub 2023 Sep 22 doi: 10.1111/ceo.14294. PMID: 37737509
Age-related macular degeneration therapy: a review.
Ammar MJ, Hsu J, Chiang A, Ho AC, Regillo CD
Curr Opin Ophthalmol 2020 May;31(3):215-221. doi: 10.1097/ICU.0000000000000657. PMID: 32205470
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M
Br J Ophthalmol 2020 Apr;104(4):451-460. Epub 2019 Nov 8 doi: 10.1136/bjophthalmol-2019-315086. PMID: 31704701Free PMC Article
Brolucizumab: First Approval.
Markham A
Drugs 2019 Dec;79(18):1997-2000. doi: 10.1007/s40265-019-01231-9. PMID: 31768932
FDA-Approved Oligonucleotide Therapies in 2017.
Stein CA, Castanotto D
Mol Ther 2017 May 3;25(5):1069-1075. Epub 2017 Mar 31 doi: 10.1016/j.ymthe.2017.03.023. PMID: 28366767Free PMC Article

Prognosis

Age-related macular degeneration.
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Age-Related Macular Degeneration.
Mehta S
Prim Care 2015 Sep;42(3):377-91. doi: 10.1016/j.pop.2015.05.009. PMID: 26319344
Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies.
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. PMID: 25458728
Epidemiology of age-related maculopathy.
Vingerling JR, Klaver CC, Hofman A, de Jong PT
Epidemiol Rev 1995;17(2):347-60. doi: 10.1093/oxfordjournals.epirev.a036198. PMID: 8654516

Clinical prediction guides

NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development.
Mullin NK, Bohrer LR, Voigt AP, Lozano LP, Wright AT, Bonilha VL, Mullins RF, Stone EM, Tucker BA
J Clin Invest 2024 Apr 23;134(11) doi: 10.1172/JCI173892. PMID: 38652563Free PMC Article
Rod Monochromatism (Achromatopsia).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. PMID: 30578497
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Detection of new-onset choroidal neovascularization.
Do DV
Curr Opin Ophthalmol 2013 May;24(3):244-7. doi: 10.1097/ICU.0b013e32835fd7dd. PMID: 23518615
Multifocal Best's vitelliform dystrophy.
Miller SA
Arch Ophthalmol 1977 Jun;95(6):984-90. doi: 10.1001/archopht.1977.04450060070004. PMID: 869757

Recent systematic reviews

Vitamin D and Ocular Diseases: A Systematic Review.
Chan HN, Zhang XJ, Ling XT, Bui CH, Wang YM, Ip P, Chu WK, Chen LJ, Tham CC, Yam JC, Pang CP
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084226. PMID: 35457041Free PMC Article
A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis.
Wong WL, Su X, Li X, Cheung CM, Klein R, Cheng CY, Wong TY
Lancet Glob Health 2014 Feb;2(2):e106-16. Epub 2014 Jan 3 doi: 10.1016/S2214-109X(13)70145-1. PMID: 25104651

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      Related information in NCBI Gene
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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