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Macular dystrophy with or without cone dysfunction(MDCD)

MedGen UID:
1054751
•Concept ID:
CN377233
•
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]

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

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
Juvenile Macular Degenerations.
Altschwager P, Ambrosio L, Swanson EA, Moskowitz A, Fulton AB
Semin Pediatr Neurol 2017 May;24(2):104-109. Epub 2017 May 23 doi: 10.1016/j.spen.2017.05.005. PMID: 28941524Free PMC Article
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

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
Neovascular Macular Degeneration: A Review of Etiology, Risk Factors, and Recent Advances in Research and Therapy.
Pugazhendhi A, Hubbell M, Jairam P, Ambati B
Int J Mol Sci 2021 Jan 25;22(3) doi: 10.3390/ijms22031170. PMID: 33504013Free PMC Article
C5 Inhibitor Avacincaptad Pegol for Geographic Atrophy Due to Age-Related Macular Degeneration: A Randomized Pivotal Phase 2/3 Trial.
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
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

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
Age-Related Macular Degeneration and Mortality: A Systematic Review and Meta-Analysis.
McGuinness MB, Karahalios A, Finger RP, Guymer RH, Simpson JA
Ophthalmic Epidemiol 2017 Jun;24(3):141-152. Epub 2017 Jan 31 doi: 10.1080/09286586.2016.1259422. PMID: 28139151
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
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
Macular dystrophies mimicking age-related macular degeneration.
Saksens NT, Fleckenstein M, Schmitz-Valckenberg S, Holz FG, den Hollander AI, Keunen JE, Boon CJ, Hoyng CB
Prog Retin Eye Res 2014 Mar;39:23-57. Epub 2013 Nov 28 doi: 10.1016/j.preteyeres.2013.11.001. PMID: 24291520

Clinical prediction guides

Electroretinographic findings in retinal vasculitis.
Ghoraba HH, Matsumiya W, Or C, Khojasteh H, Patel P, Karaca I, Regenold J, Zaidi M, Hwang J, Lajevardi S, Yavari N, Than NTT, Park SW, Akhavanrezayat A, Uludag G, Yasar C, Leung LB, Nguyen QD
Br J Ophthalmol 2023 Nov 22;107(12):1834-1838. doi: 10.1136/bjo-2022-321716. PMID: 36130816Free PMC Article
Sorsby fundus dystrophy (SFD): A narrative review.
Tsokolas G
Medicine (Baltimore) 2022 Sep 23;101(38):e30595. doi: 10.1097/MD.0000000000030595. PMID: 36197222Free PMC Article
Phototherapeutic Keratectomy in Macular and Granular Dystrophy: Two-year Results.
Kemer Atik B, Yildirim Y, Sonmez O, Gumus G, Kepez Yildiz B, Agca A
Semin Ophthalmol 2020 Apr 2;35(3):182-186. Epub 2020 Jun 12 doi: 10.1080/08820538.2020.1778743. PMID: 32529934
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

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
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
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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