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Reticular dystrophy of the retinal pigment epithelium

MedGen UID:
341448
Concept ID:
C1849407
Disease or Syndrome
Synonym: Retinal dystrophy, reticular pigmentary, of posterior pole
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).
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0009979
OMIM®: 267800
Orphanet: ORPHA99002

Definition

Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, 169150) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by Schauwvlieghe et al., 2013). [from OMIM]

Clinical features

From HPO
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Drusen
MedGen UID:
488956
Concept ID:
C1260959
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
Reticular pigmentary degeneration
MedGen UID:
870326
Concept ID:
C4024769
Disease or Syndrome
A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReticular dystrophy of the retinal pigment epithelium

Recent clinical studies

Etiology

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
Gliem M, Müller PL, Birtel J, McGuinness MB, Finger RP, Herrmann P, Hendig D, Holz FG, Charbel Issa P
Invest Ophthalmol Vis Sci 2017 Dec 1;58(14):6159-6165. doi: 10.1167/iovs.17-22007. PMID: 29214314
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
Wilde C, Lakshmanan A, Patel M, Morales MU, Dhar-Munshi S, Amoaku WM
Eye (Lond) 2016 Jun;30(6):817-24. Epub 2016 Apr 1 doi: 10.1038/eye.2016.46. PMID: 27034200Free PMC Article

Diagnosis

Gliem M, Müller PL, Birtel J, McGuinness MB, Finger RP, Herrmann P, Hendig D, Holz FG, Charbel Issa P
Invest Ophthalmol Vis Sci 2017 Dec 1;58(14):6159-6165. doi: 10.1167/iovs.17-22007. PMID: 29214314
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
Pinckers A
Ophthalmic Paediatr Genet 1988 Jul;9(2):77-114. doi: 10.3109/13816818809031483. PMID: 3054688
Marmor MF, Byers B
Am J Ophthalmol 1977 Jul;84(1):32-44. doi: 10.1016/0002-9394(77)90320-8. PMID: 900215

Therapy

Marmor MF
Retin Cases Brief Rep 2020 Summer;14(3):282-288. doi: 10.1097/ICB.0000000000000700. PMID: 29342012

Prognosis

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
Xu L, Blonska AM, Pumariega NM, Bearelly S, Sohrab MA, Hageman GS, Smith RT
Retina 2013 Oct;33(9):1850-62. doi: 10.1097/IAE.0b013e31828991b2. PMID: 23632954Free PMC Article
Kimizuka Y, Kiyosawa M, Tamai M, Takase S
Retina 1993;13(2):129-35. PMID: 8337494
Deutman AF, Rümke AM
Arch Ophthalmol 1969 Jul;82(1):4-9. doi: 10.1001/archopht.1969.00990020006002. PMID: 5791502

Clinical prediction guides

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
Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT
Prog Retin Eye Res 2016 Jul;53:70-106. Epub 2016 May 10 doi: 10.1016/j.preteyeres.2016.04.008. PMID: 27173377
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
Zerbib J, Querques G, Massamba N, Puche N, Tilleul J, Lalloum F, Srour M, Coscas G, Souied EH
Am J Ophthalmol 2013 Dec;156(6):1228-37. Epub 2013 Sep 25 doi: 10.1016/j.ajo.2013.07.020. PMID: 24075421
Hsieh RC, Fine BS, Lyons JS
Arch Ophthalmol 1977 Mar;95(3):429-35. doi: 10.1001/archopht.1977.04450030071006. PMID: 843272

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