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Patterned dystrophy of the retinal pigment epithelium(MDPT1)

MedGen UID:
357005
Concept ID:
C1868569
Disease or Syndrome
Synonym: MDPT1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
 
Monarch Initiative: MONDO:0018973
OMIM®: 169150
Orphanet: ORPHA63454

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatterned dystrophy of the retinal pigment epithelium
Follow this link to review classifications for Patterned dystrophy of the retinal pigment epithelium in Orphanet.

Professional guidelines

PubMed

Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR
Eye (Lond) 2021 May;35(5):1482-1489. Epub 2020 Jul 17 doi: 10.1038/s41433-020-1045-3. PMID: 32681094Free PMC Article

Recent clinical studies

Etiology

Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237
Wightman AJ, Guymer RH
Clin Exp Optom 2019 Sep;102(5):455-462. Epub 2018 Oct 8 doi: 10.1111/cxo.12842. PMID: 30298528
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:91-96. doi: 10.1007/978-3-319-95046-4_17. PMID: 30578490

Diagnosis

Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP
Ophthalmol Retina 2024 May;8(5):509-519. Epub 2023 Nov 3 doi: 10.1016/j.oret.2023.10.023. PMID: 37924945
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237
Grøndahl J
Acta Ophthalmol (Copenh) 1987 Jun;65(3):344-51. doi: 10.1111/j.1755-3768.1987.tb08517.x. PMID: 3618160

Therapy

Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP
Ophthalmol Retina 2024 May;8(5):509-519. Epub 2023 Nov 3 doi: 10.1016/j.oret.2023.10.023. PMID: 37924945
Lindeke-Myers A, Hanif AM, Jain N
Surv Ophthalmol 2022 Jan-Feb;67(1):83-96. Epub 2021 May 14 doi: 10.1016/j.survophthal.2021.05.005. PMID: 34000253
Parodi MB, Iacono P, Da Pozzo S
Curr Drug Targets 2020;21(12):1201-1207. doi: 10.2174/1389450121666200428103334. PMID: 32342816
Hanif AM, Yan J, Jain N
Int Ophthalmol Clin 2019 Winter;59(1):173-194. doi: 10.1097/IIO.0000000000000262. PMID: 30585925
Viola F, Barteselli G, DellʼArti L, Vezzola D, Mapelli C, Villani E, Ratiglia R
Retina 2014 Jul;34(7):1428-38. doi: 10.1097/IAE.0000000000000073. PMID: 24378427

Prognosis

Iovino C, Ramtohul P, Au A, Romero-Morales V, Sadda S, Freund KB, Sarraf D
Surv Ophthalmol 2023 May-Jun;68(3):361-379. Epub 2023 Jan 30 doi: 10.1016/j.survophthal.2023.01.009. PMID: 36720370
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Amoroso F, Mrejen S, Pedinielli A, Tabary S, Souied EH, Gaudric A, Cohen SY
Retina 2021 Jan 1;41(1):82-92. doi: 10.1097/IAE.0000000000002806. PMID: 32251237
Dolz-Marco R, Litts KM, Tan ACS, Freund KB, Curcio CA
Ophthalmology 2017 Sep;124(9):1353-1367. Epub 2017 Apr 26 doi: 10.1016/j.ophtha.2017.03.043. PMID: 28456420
Grøndahl J
Acta Ophthalmol (Copenh) 1987 Jun;65(3):344-51. doi: 10.1111/j.1755-3768.1987.tb08517.x. PMID: 3618160

Clinical prediction guides

Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP
Ophthalmol Retina 2024 May;8(5):509-519. Epub 2023 Nov 3 doi: 10.1016/j.oret.2023.10.023. PMID: 37924945
Liu T, Aguilera N, Bower AJ, Li J, Ullah E, Dubra A, Cukras C, Brooks BP, Jeffrey BG, Hufnagel RB, Huryn LA, Zein WM, Tam J
Invest Ophthalmol Vis Sci 2022 Jul 8;63(8):27. doi: 10.1167/iovs.63.8.27. PMID: 35900727Free PMC Article
Dolz-Marco R, Litts KM, Tan ACS, Freund KB, Curcio CA
Ophthalmology 2017 Sep;124(9):1353-1367. Epub 2017 Apr 26 doi: 10.1016/j.ophtha.2017.03.043. PMID: 28456420
Jean-Charles A, Merle H, Audo I, Desoudin C, Bocquet B, Baudoin C, Sidibe M, Mauget-Faÿsse M, Wolff B, Fichard A, Lenaers G, Sahel JA, Gaudric A, Cohen SY, Hamel CP, Meunier I
Ophthalmology 2016 Oct;123(10):2196-204. Epub 2016 Jul 26 doi: 10.1016/j.ophtha.2016.06.028. PMID: 27474146
Warrow DJ, Hoang QV, Freund KB
Retina 2013 Sep;33(8):1659-72. doi: 10.1097/IAE.0b013e3182953df4. PMID: 23751942

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