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Reticular retinal dystrophy

MedGen UID:
870333
Concept ID:
C4024776
Disease or Syndrome
HPO: HP:0007913

Definition

A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReticular retinal dystrophy

Conditions with this feature

Patterned macular dystrophy 1
MedGen UID:
1646806
Concept ID:
C4551999
Disease or Syndrome
Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see 268000)-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012). Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see 179840 and 267800), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. Genetic Heterogeneity of Patterned Macular Dystrophy Also see MDPT2 (608970), caused by mutation in the CTNNA1 gene (116805) on chromosome 5q31; and MDPT3 (617111), caused by mutation in the MAPKAPK3 gene (602130) on chromosome 3p21.

Recent clinical studies

Etiology

Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article
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
Pallado CM, Sikorav A, Semoun O, Jung C, Souied EH
Ophthalmic Surg Lasers Imaging Retina 2016 Jul 1;47(7):652-8. doi: 10.3928/23258160-20160707-07. PMID: 27434897
Kimizuka Y, Kiyosawa M, Tamai M, Takase S
Retina 1993;13(2):129-35. PMID: 8337494

Diagnosis

Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article
Ozkaya A, Garip R, Nur Tarakcioglu H, Alkin Z, Taskapili M
J Fr Ophtalmol 2018 Jan;41(1):21-29. Epub 2017 Nov 28 doi: 10.1016/j.jfo.2017.06.009. PMID: 29195727
Pallado CM, Sikorav A, Semoun O, Jung C, Souied EH
Ophthalmic Surg Lasers Imaging Retina 2016 Jul 1;47(7):652-8. doi: 10.3928/23258160-20160707-07. PMID: 27434897
Frampton GK, Kalita N, Payne L, Colquitt J, Loveman E
Health Technol Assess 2016 Apr;20(31):1-108. doi: 10.3310/hta20310. PMID: 27115052Free PMC Article
Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, Charbel Issa P
Ophthalmology 2015 Aug;122(8):1555-62. Epub 2015 Jun 12 doi: 10.1016/j.ophtha.2015.04.035. PMID: 26077580

Therapy

Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article
Gliem M, Wieg I, Birtel J, Müller PL, Faust I, Hendig D, Holz FG, Finger RP, Charbel Issa P
Br J Ophthalmol 2020 Aug;104(8):1089-1092. Epub 2019 Mar 28 doi: 10.1136/bjophthalmol-2018-313448. PMID: 30923132
Marmor MF
Retin Cases Brief Rep 2020 Summer;14(3):282-288. doi: 10.1097/ICB.0000000000000700. PMID: 29342012
Frampton GK, Kalita N, Payne L, Colquitt J, Loveman E
Health Technol Assess 2016 Apr;20(31):1-108. doi: 10.3310/hta20310. PMID: 27115052Free PMC Article
Perlman HB, Lindsay JR
Prog Neurol Psychiatry 1968;23:198-202. PMID: 4976880

Prognosis

Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC
Ophthalmol Retina 2021 Oct;5(10):1043-1051. Epub 2020 Dec 22 doi: 10.1016/j.oret.2020.12.012. PMID: 33352318Free PMC Article
DeBenedictis MJ, Gindzin Y, Glaab E, Anand-Apte B
Ophthalmic Genet 2020 Oct;41(5):480-484. Epub 2020 Jul 27 doi: 10.1080/13816810.2020.1795889. PMID: 32715858Free PMC Article
Abed E, D'Amico G, Rossi S, Perna A, Bianchi MLE, Silvestri G
Neuromuscul Disord 2020 Feb;30(2):144-150. Epub 2019 Nov 30 doi: 10.1016/j.nmd.2019.11.012. PMID: 32005494
Pallado CM, Sikorav A, Semoun O, Jung C, Souied EH
Ophthalmic Surg Lasers Imaging Retina 2016 Jul 1;47(7):652-8. doi: 10.3928/23258160-20160707-07. PMID: 27434897
Kimizuka Y, Kiyosawa M, Tamai M, Takase S
Retina 1993;13(2):129-35. PMID: 8337494

Clinical prediction guides

Abed E, D'Amico G, Rossi S, Perna A, Bianchi MLE, Silvestri G
Neuromuscul Disord 2020 Feb;30(2):144-150. Epub 2019 Nov 30 doi: 10.1016/j.nmd.2019.11.012. PMID: 32005494
Ozkaya A, Garip R, Nur Tarakcioglu H, Alkin Z, Taskapili M
J Fr Ophtalmol 2018 Jan;41(1):21-29. Epub 2017 Nov 28 doi: 10.1016/j.jfo.2017.06.009. PMID: 29195727
Pallado CM, Sikorav A, Semoun O, Jung C, Souied EH
Ophthalmic Surg Lasers Imaging Retina 2016 Jul 1;47(7):652-8. doi: 10.3928/23258160-20160707-07. PMID: 27434897
Gliem M, Müller PL, Mangold E, Bolz HJ, Stöhr H, Weber BH, Holz FG, Charbel Issa P
Ophthalmology 2015 Aug;122(8):1555-62. Epub 2015 Jun 12 doi: 10.1016/j.ophtha.2015.04.035. PMID: 26077580
Zweifel SA, Imamura Y, Freund KB, Spaide RF
Retina 2011 Mar;31(3):482-91. doi: 10.1097/IAE.0b013e3181f056ce. PMID: 20966826

Recent systematic reviews

Frampton GK, Kalita N, Payne L, Colquitt J, Loveman E
Health Technol Assess 2016 Apr;20(31):1-108. doi: 10.3310/hta20310. PMID: 27115052Free PMC Article

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