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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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
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

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
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

Genetic dissection of non-syndromic retinitis pigmentosa.
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
Pentosan polysulfate maculopathy.
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
INTRARETINAL HYPERREFLECTIVE LINES.
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
Reticular pseudodrusen: current understanding.
Wightman AJ, Guymer RH
Clin Exp Optom 2019 Sep;102(5):455-462. Epub 2018 Oct 8 doi: 10.1111/cxo.12842. PMID: 30298528
Pattern Dystrophy.
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:91-96. doi: 10.1007/978-3-319-95046-4_17. PMID: 30578490

Diagnosis

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
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
Genetic dissection of non-syndromic retinitis pigmentosa.
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
Pentosan polysulfate maculopathy.
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
INTRARETINAL HYPERREFLECTIVE LINES.
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
Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine.
Hanif AM, Yan J, Jain N
Int Ophthalmol Clin 2019 Winter;59(1):173-194. doi: 10.1097/IIO.0000000000000262. PMID: 30585925

Therapy

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
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
Pentosan polysulfate maculopathy.
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
Anti-VEGF and Retinal Dystrophies.
Parodi MB, Iacono P, Da Pozzo S
Curr Drug Targets 2020;21(12):1201-1207. doi: 10.2174/1389450121666200428103334. PMID: 32342816
Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine.
Hanif AM, Yan J, Jain N
Int Ophthalmol Clin 2019 Winter;59(1):173-194. doi: 10.1097/IIO.0000000000000262. PMID: 30585925
Multimodal imaging in deferoxamine retinopathy.
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

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Vitelliform maculopathy: Diverse etiologies originating from one common pathway.
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
Genetic dissection of non-syndromic retinitis pigmentosa.
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
INTRARETINAL HYPERREFLECTIVE LINES.
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
Pericentral retinal dystrophy.
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

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
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
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
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
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.
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
Pachychoroid pigment epitheliopathy.
Warrow DJ, Hoang QV, Freund KB
Retina 2013 Sep;33(8):1659-72. doi: 10.1097/IAE.0b013e3182953df4. PMID: 23751942

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