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Doyne honeycomb retinal dystrophy(DHRD)

MedGen UID:
321900
Concept ID:
C1832174
Disease or Syndrome
Synonyms: DHRD; Doyne honeycomb degeneration of retina; DRUSEN, RADIAL, AUTOSOMAL DOMINANT; MALATTIA LEVENTINESE
SNOMED CT: Doyne's honeycomb choroiditis (193411004); Dominant drusen (193411004); Hereditary dominant drusen retinal dystrophy (193411004)
Modes of inheritance:
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.
 
Gene (location): EFEMP1 (2p16.1)
 
Monarch Initiative: MONDO:0007471
OMIM®: 126600
Orphanet: ORPHA75376

Definition

Doyne honeycomb retinal dystrophy (DHRD), also known as malattia leventinese (MLVT) and autosomal dominant radial drusen, is a progressive disorder characterized by the accumulation of macular and peripapillary yellow-white deposits, termed 'drusen,' beneath the retinal pigment epithelium in the Bruch membrane. With age, drusen increase in size and number, often forming a honeycomb-like pattern. Massive drusen, geographic retinal atrophy, and macular hyperpigmentation eventually cause visual symptoms in the fifth or sixth decades of life, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma. Complications such as secondary choroidal neovascularization and hemorrhage can result in rapid progression (summary by Sheyanth et al., 2021). Hulleman et al. (2011) noted that both DHRD and MLVT present with clinical and pathologic symptoms similar to age-related macular degeneration (see ARMD1, 603075), including soft drusen accumulation, loss of basolateral ruffling of the RPE, RPE vacuolization, and atrophy, with eventual neovascularization in an accelerated time frame, usually in the fourth decade of life. [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.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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.

Recent clinical studies

Etiology

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Biasella F, Plössl K, Baird PN, Weber BHF
Front Immunol 2023;14:1147037. Epub 2023 Mar 1 doi: 10.3389/fimmu.2023.1147037. PMID: 36936905Free PMC Article
Lin MK, Yang J, Hsu CW, Gore A, Bassuk AG, Brown LM, Colligan R, Sengillo JD, Mahajan VB, Tsang SH
Aging Cell 2018 Aug;17(4):e12710. Epub 2018 May 5 doi: 10.1111/acel.12710. PMID: 29730901Free PMC Article
Ramkumar HL, Zhang J, Chan CC
Prog Retin Eye Res 2010 May;29(3):169-90. Epub 2010 Mar 3 doi: 10.1016/j.preteyeres.2010.02.002. PMID: 20206286Free PMC Article
Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH
Ophthalmic Genet 2001 Mar;22(1):27-34. doi: 10.1076/opge.22.1.27.2239. PMID: 11262647

Diagnosis

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Biasella F, Plössl K, Baird PN, Weber BHF
Front Immunol 2023;14:1147037. Epub 2023 Mar 1 doi: 10.3389/fimmu.2023.1147037. PMID: 36936905Free PMC Article
Gelvez N, Hurtado-Villa P, Flórez S, Brieke AC, Rodríguez F, Bertolotto AM, Tamayo ML
Biomedica 2021 Sep 22;41(3):388-395. doi: 10.7705/biomedica.5604. PMID: 34559486Free PMC Article
Grillo SL, Etzel JD, Weber SR, Ondeck C, Wang W, Zhao Y, Barber AJ, Sundstrom JM
Exp Eye Res 2021 Feb;203:108422. Epub 2020 Dec 30 doi: 10.1016/j.exer.2020.108422. PMID: 33387484
Cusumano A, Falsini B, Giardina E, Cascella R, Sebastiani J, Marshall J
J Med Case Rep 2019 Jan 10;13(1):5. doi: 10.1186/s13256-018-1935-1. PMID: 30626431Free PMC Article

Therapy

Parameswarappa DC, Rani PK
BMJ Case Rep 2021 Feb 1;14(2) doi: 10.1136/bcr-2020-237635. PMID: 33526522Free PMC Article
Lenassi E, Troeger E, Wilke R, Tufail A, Hawlina M, Jeffery G, Webster AR
Am J Ophthalmol 2013 Jan;155(1):190-8. Epub 2012 Oct 2 doi: 10.1016/j.ajo.2012.07.003. PMID: 23036572
Sohn EH, Patel PJ, MacLaren RE, Adatia FA, Pal B, Webster AR, Tufail A
Arch Ophthalmol 2011 Dec;129(12):1626-8. doi: 10.1001/archophthalmol.2011.338. PMID: 22159686

Prognosis

Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F
Retina 2014 Dec;34(12):2462-71. doi: 10.1097/IAE.0000000000000259. PMID: 25111685
Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C, Bird AC
Arch Ophthalmol 1997 Jul;115(7):904-10. doi: 10.1001/archopht.1997.01100160074012. PMID: 9230832

Clinical prediction guides

Woodard DR, Nakahara E, Hulleman JD
Sci Rep 2021 Feb 4;11(1):2998. doi: 10.1038/s41598-020-79570-x. PMID: 33542268Free PMC Article
Cusumano A, Falsini B, Giardina E, Cascella R, Sebastiani J, Marshall J
J Med Case Rep 2019 Jan 10;13(1):5. doi: 10.1186/s13256-018-1935-1. PMID: 30626431Free PMC Article
Zhang K, Sun X, Chen Y, Zhong Q, Lin L, Gao Y, Hong F
BMC Ophthalmol 2018 Dec 12;18(1):318. doi: 10.1186/s12886-018-0988-7. PMID: 30541486Free PMC Article
Galloway CA, Dalvi S, Hung SSC, MacDonald LA, Latchney LR, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung MM, Gamm DM, Pébay A, Hewitt AW, Singh R
Proc Natl Acad Sci U S A 2017 Sep 26;114(39):E8214-E8223. Epub 2017 Sep 6 doi: 10.1073/pnas.1710430114. PMID: 28878022Free PMC Article
Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F
Retina 2014 Dec;34(12):2462-71. doi: 10.1097/IAE.0000000000000259. PMID: 25111685

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