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Retinal macular dystrophy type 2(MCDR2)

MedGen UID:
1666864
Concept ID:
C4749334
Disease or Syndrome
Synonyms: Bull's eye macular dystrophy; MCDR2
SNOMED CT: Retinal macular dystrophy type 2 (770594005); MCDR2 - retinal macular dystrophy type 2 (770594005)
 
Gene (location): PROM1 (4p15.32)
 
Monarch Initiative: MONDO:0011957
OMIM®: 608051
Orphanet: ORPHA319640

Definition

A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). [from SNOMEDCT_US]

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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
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.
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.
Granular macular appearance
MedGen UID:
870355
Concept ID:
C4024799
Finding
Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
Concept ID:
C4073099
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal macular dystrophy type 2

Professional guidelines

PubMed

Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Browning DJ, Stewart MW, Lee C
Indian J Ophthalmol 2018 Dec;66(12):1736-1750. doi: 10.4103/ijo.IJO_1240_18. PMID: 30451174Free PMC Article
Charbel Issa P, Kupitz EH, Heeren TF, Holz FG
Dev Ophthalmol 2016;55:189-95. Epub 2015 Oct 26 doi: 10.1159/000431263. PMID: 26501828

Recent clinical studies

Etiology

Izquierdo-Serra J, Martin-Pinardel R, Moll-Udina A, Bernal-Morales C, Garay-Aramburu G, Sanchez-Monroy J, Arruabarrena C, Fernandez-Hortelano A, Figueroa MS, Abraldes M, Lavid de Los Mozos FJ, Zapata MA, Ruiz-Moreno JM, Broc-Iturralde L, Gonzalez-Guijarro J, Escobar-Barranco JJ, Gallego-Pinazo R, Parrado-Carrillo A, Dotti-Boada M, Alforja S, Figueras-Roca M, Barthelmes D, Gillies MC, Casaroli-Marano RP, Zarranz-Ventura J; Writing Committee of the Fight Retinal Blindness Spain (FRB! Spain) Users Group
Ophthalmol Retina 2024 Apr;8(4):350-359. Epub 2023 Nov 2 doi: 10.1016/j.oret.2023.10.022. PMID: 37924946
Bousquet E, Santina A, Corradetti G, Sacconi R, Ramtohul P, Bijon J, Somisetty S, Voichanski S, Querques G, Sadda S, Freund KB, Sarraf D
Retina 2024 Feb 1;44(2):189-196. doi: 10.1097/IAE.0000000000003945. PMID: 37756671
Neiteler A, Palakkan AA, Gallagher KM, Ross JA
Sci Rep 2023 Nov 30;13(1):21143. doi: 10.1038/s41598-023-47721-5. PMID: 38036571Free PMC Article
Domalpally A, Whittier SA, Pan Q, Dabelea DM, Darwin CH, Knowler WC, Lee CG, Luchsinger JA, White NH, Chew EY; Diabetes Prevention Program Research (DPPOS) Group
JAMA Ophthalmol 2023 Feb 1;141(2):140-147. doi: 10.1001/jamaophthalmol.2022.5567. PMID: 36547967Free PMC Article
Bacci T, Essilfie JO, Leong BCS, Freund KB
Graefes Arch Clin Exp Ophthalmol 2021 May;259(5):1123-1134. Epub 2020 Nov 26 doi: 10.1007/s00417-020-05021-y. PMID: 33242167

Diagnosis

Khaboushan AS, Ebadpour N, Moghadam MMJ, Rezaee Z, Kajbafzadeh AM, Zolbin MM
J Transl Med 2024 Mar 2;22(1):227. doi: 10.1186/s12967-024-05016-x. PMID: 38431596Free PMC Article
Clemens CR, Eter N, Alten F
Ophthalmologica 2024;247(2):73-84. Epub 2024 Jan 24 doi: 10.1159/000536278. PMID: 38266500Free PMC Article
Pinheiro RL, Marques JP, Murta JN
Ophthalmol Retina 2023 Feb;7(2):188. Epub 2022 Dec 12 doi: 10.1016/j.oret.2022.11.004. PMID: 36517348
Kaarniranta K, Blasiak J, Liton P, Boulton M, Klionsky DJ, Sinha D
Autophagy 2023 Feb;19(2):388-400. Epub 2022 May 1 doi: 10.1080/15548627.2022.2069437. PMID: 35468037Free PMC Article
Gaudric A, Audo I, Vignal C, Couturier A, Boulanger-Scemama É, Tadayoni R, Cohen SY
Prog Retin Eye Res 2022 Nov;91:101092. Epub 2022 Aug 1 doi: 10.1016/j.preteyeres.2022.101092. PMID: 35927124

Therapy

Brown DM, Boyer DS, Do DV, Wykoff CC, Sakamoto T, Win P, Joshi S, Salehi-Had H, Seres A, Berliner AJ, Leal S, Vitti R, Chu KW, Reed K, Rao R, Cheng Y, Sun W, Voronca D, Bhore R, Schmidt-Ott U, Schmelter T, Schulze A, Zhang X, Hirshberg B, Yancopoulos GD, Sivaprasad S; PHOTON Investigators
Lancet 2024 Mar 23;403(10432):1153-1163. Epub 2024 Mar 7 doi: 10.1016/S0140-6736(23)02577-1. PMID: 38461843
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Browning DJ, Stewart MW, Lee C
Indian J Ophthalmol 2018 Dec;66(12):1736-1750. doi: 10.4103/ijo.IJO_1240_18. PMID: 30451174Free PMC Article
Tan GS, Cheung N, Simó R, Cheung GC, Wong TY
Lancet Diabetes Endocrinol 2017 Feb;5(2):143-155. Epub 2016 Aug 3 doi: 10.1016/S2213-8587(16)30052-3. PMID: 27496796
Korobelnik JF, Do DV, Schmidt-Erfurth U, Boyer DS, Holz FG, Heier JS, Midena E, Kaiser PK, Terasaki H, Marcus DM, Nguyen QD, Jaffe GJ, Slakter JS, Simader C, Soo Y, Schmelter T, Yancopoulos GD, Stahl N, Vitti R, Berliner AJ, Zeitz O, Metzig C, Brown DM
Ophthalmology 2014 Nov;121(11):2247-54. Epub 2014 Jul 8 doi: 10.1016/j.ophtha.2014.05.006. PMID: 25012934

Prognosis

Karska-Basta I, Pociej-Marciak W, Żuber-Łaskawiec K, Markiewicz A, Chrząszcz M, Romanowska-Dixon B, Kubicka-Trząska A
Medicina (Kaunas) 2024 Mar 12;60(3) doi: 10.3390/medicina60030465. PMID: 38541191Free PMC Article
Pandya BU, Grinton M, Mandelcorn ED, Felfeli T
Retina 2024 Mar 1;44(3):369-380. doi: 10.1097/IAE.0000000000003974. PMID: 37903455Free PMC Article
Dumbrăveanu L, Cușnir V, Bobescu D
Rom J Ophthalmol 2021 Oct-Dec;65(4):315-329. doi: 10.22336/rjo.2021.66. PMID: 35087972Free PMC Article
Charbel Issa P, Kupitz EH, Heeren TF, Holz FG
Dev Ophthalmol 2016;55:189-95. Epub 2015 Oct 26 doi: 10.1159/000431263. PMID: 26501828
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

Izquierdo-Serra J, Martin-Pinardel R, Moll-Udina A, Bernal-Morales C, Garay-Aramburu G, Sanchez-Monroy J, Arruabarrena C, Fernandez-Hortelano A, Figueroa MS, Abraldes M, Lavid de Los Mozos FJ, Zapata MA, Ruiz-Moreno JM, Broc-Iturralde L, Gonzalez-Guijarro J, Escobar-Barranco JJ, Gallego-Pinazo R, Parrado-Carrillo A, Dotti-Boada M, Alforja S, Figueras-Roca M, Barthelmes D, Gillies MC, Casaroli-Marano RP, Zarranz-Ventura J; Writing Committee of the Fight Retinal Blindness Spain (FRB! Spain) Users Group
Ophthalmol Retina 2024 Apr;8(4):350-359. Epub 2023 Nov 2 doi: 10.1016/j.oret.2023.10.022. PMID: 37924946
Kataoka SY, Lois N, Kawano S, Kataoka Y, Inoue K, Watanabe N
Cochrane Database Syst Rev 2023 Jun 13;6(6):CD013318. doi: 10.1002/14651858.CD013318.pub2. PMID: 37310870Free PMC Article
Ciprés M, Satue M, Melchor I, Gil-Arribas L, Vilades E, Garcia-Martin E
Arch Soc Esp Oftalmol (Engl Ed) 2022 Apr;97(4):205-218. Epub 2022 Mar 2 doi: 10.1016/j.oftale.2022.02.009. PMID: 35523467
Baker CW, Glassman AR, Beaulieu WT, Antoszyk AN, Browning DJ, Chalam KV, Grover S, Jampol LM, Jhaveri CD, Melia M, Stockdale CR, Martin DF, Sun JK; DRCR Retina Network
JAMA 2019 May 21;321(19):1880-1894. doi: 10.1001/jama.2019.5790. PMID: 31037289Free PMC Article
Gulshan V, Peng L, Coram M, Stumpe MC, Wu D, Narayanaswamy A, Venugopalan S, Widner K, Madams T, Cuadros J, Kim R, Raman R, Nelson PC, Mega JL, Webster DR
JAMA 2016 Dec 13;316(22):2402-2410. doi: 10.1001/jama.2016.17216. PMID: 27898976

Recent systematic reviews

Khaboushan AS, Ebadpour N, Moghadam MMJ, Rezaee Z, Kajbafzadeh AM, Zolbin MM
J Transl Med 2024 Mar 2;22(1):227. doi: 10.1186/s12967-024-05016-x. PMID: 38431596Free PMC Article
Kataoka SY, Lois N, Kawano S, Kataoka Y, Inoue K, Watanabe N
Cochrane Database Syst Rev 2023 Jun 13;6(6):CD013318. doi: 10.1002/14651858.CD013318.pub2. PMID: 37310870Free PMC Article
Perais J, Agarwal R, Evans JR, Loveman E, Colquitt JL, Owens D, Hogg RE, Lawrenson JG, Takwoingi Y, Lois N
Cochrane Database Syst Rev 2023 Feb 22;2(2):CD013775. doi: 10.1002/14651858.CD013775.pub2. PMID: 36815723Free PMC Article
Lem DW, Gierhart DL, Davey PG
Nutrients 2021 Jul 16;13(7) doi: 10.3390/nu13072441. PMID: 34371951Free PMC Article
Leong WB, Jadhakhan F, Taheri S, Chen YF, Adab P, Thomas GN
Diabet Med 2016 Feb;33(2):158-68. Epub 2015 Jul 4 doi: 10.1111/dme.12817. PMID: 26031931

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