Doyne honeycomb retinal dystrophy

Small round white spots (drusen) that appear at the posterior pole of the eye, including the areas of the MACULA LUTEA and OPTIC DISK, in early adulthood and progress to form a mosaic or honeycomb pattern coincident with deterioration of vision. It is caused by mutations in the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) protein. OMIM: 126600

Also Known As:

Networked: 29 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Doyne honeycomb retinal dystrophy
2.	Macular Degeneration (Age-Related Maculopathy)
3.	Vitelliform Macular Dystrophy
4.	Retinitis Pigmentosa (Pigmentary Retinopathy)
5.	Retinal Dystrophies

Experts

1.	Hulleman, John D: 5 articles (01/2021 - 12/2011)
2.	Tsang, Stephen H: 2 articles (01/2021 - 01/2018)
3.	Balch, William E: 2 articles (11/2012 - 12/2011)
4.	Kelly, Jeffery W: 2 articles (11/2012 - 12/2011)
5.	Anotado-Flores, Jewel Faith: 1 article (01/2022)
6.	Collantes, Anthony A: 1 article (01/2022)
7.	Collantes, Edward Ryan A: 1 article (01/2022)
8.	Delfin, Manuel S: 1 article (01/2022)
9.	Fan, Baojian: 1 article (01/2022)
10.	Florcruz, Nilo Vincent de Guzman: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Doyne honeycomb retinal dystrophy:

1.	fibulinIBA 11/01/2012 - "One secretion-deficient fibulin mutant, R345W fibulin-3, causes the macular dystrophy malattia leventinese by increased endoplasmic reticulum retention and/or extracellular misfolding. " 10/15/2007 - "The inherited macular degeneration Doyne honeycomb retinal dystrophy/Malattia Leventinese is thought to be caused by an R345W mutation in the EFEMP1 gene (also called fibulin-3). " 12/01/2011 - "Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy." 03/01/2001 - "At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix protein-1 (EFEMP1) and are now thought to represent a single entity. " 01/01/2023 - "Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. "
2.	Extracellular Matrix ProteinsIBA 01/01/2021 - "Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases ranging from primary open angle glaucoma to cuticular age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese (ML). " 01/01/2018 - "In addition, two novel targets of HTRA1 have been identified: EFEMP1, an extracellular matrix protein mutated in Doyne honeycomb retinal dystrophy, a genetic eye disease similar to AMD, and thrombospondin 1 (TSP1), an inhibitor of angiogenesis. " 01/01/2023 - "Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. " 01/01/2005 - "The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. " 12/01/2011 - "An Arg345Trp (R345W) mutation in epidermal growth factor-containing, fibulin-like extracellular matrix protein 1 (EFEMP1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). "
3.	Retinaldehyde (Retinal)IBA 02/01/2009 - "To investigate retinal microstructure of patients affected with malattia leventinese (MLVT) and mutation in the EFEMP1 gene using high-resolution optical coherence tomography (OCT). " 01/01/1957 - "[New genealogical tree of degeneration typeto-retinal of the macular and peripapillary region, type "malattia leventinese"]." 01/01/2010 - "Finally, BM is passively or actively involved in a range of other retinal disorders such as Pseudoxanthoma elasticum (PXE), Sorsby's Fundus Dystrophy and Malattia Leventinese. " 01/01/2021 - "Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb-like pattern. " 01/01/2023 - "Within the eye, protein aggregation has also been implicated in various retinal degenerative diseases ranging from retinitis pigmentosa (RP) to Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD) to age-related macular degeneration (AMD). "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2008 - "Expression and cell compartmentalization of EFEMP1, a protein associated with Malattia Leventinese." 01/01/2022 - "To investigate functional effects, we transfected COS7 cells with vectors expressing the three novel EFEMP1 variants and showed that all three variants found in JOAG patients caused significant intracellular protein aggregation and retention compared to wild type and also compared to EFEMP1 variants associated with other ocular phenotypes including an early-onset form of macular degeneration, Malattia Leventinese/Doyne's Honeycomb retinal dystrophy. " 01/01/2010 - "Here, we review the misfolded proteins associated with select types of retinitis pigmentosa, Stargadt-like macular degeneration, and Doyne Honeycomb Retinal Dystrophy and discuss the role that endoplasmic reticulum stress and UPR signaling play in their pathogenesis. " 11/01/2005 - "The inherited early-onset macular degenerative disease known as malattia leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) have been linked to a missense mutation leading to production of a mutant fibulin-3 protein (R345W). " 01/01/2023 - "Within the eye, protein aggregation has also been implicated in various retinal degenerative diseases ranging from retinitis pigmentosa (RP) to Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD) to age-related macular degeneration (AMD). "
5.	Epidermal Growth Factor (EGF)IBA 01/01/2015 - "An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML). " 03/01/2001 - "At least two forms, Doyne honeycomb retinal dystrophy (DHRD) and Malattia Leventinese (MLVT), are associated with a single missense mutation (R345W) in the gene encoding the EGF-containing fibulin-like extracellular matrix protein-1 (EFEMP1) and are now thought to represent a single entity. " 01/01/2023 - "Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. " 01/01/2005 - "The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. " 12/01/2011 - "An Arg345Trp (R345W) mutation in epidermal growth factor-containing, fibulin-like extracellular matrix protein 1 (EFEMP1) causes its inefficient secretion and the macular dystrophy malattia leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). "
6.	PeripherinsIBA 11/03/1999 - "The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. " 11/03/1999 - "The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. "
7.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 12/01/2011 - "Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy."
8.	Thrombospondin 1IBA 01/01/2018 - "In addition, two novel targets of HTRA1 have been identified: EFEMP1, an extracellular matrix protein mutated in Doyne honeycomb retinal dystrophy, a genetic eye disease similar to AMD, and thrombospondin 1 (TSP1), an inhibitor of angiogenesis. "
9.	Complement Factor B (Factor B)IBA 01/01/2023 - "Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration."
10.	LipidsIBA 01/01/2021 - "Abnormal intracellular accumulation of lipid droplets and pericellular deposits of lipid-rich material in the retinal pigment epithelium (RPE) called drusen are clinical hallmarks of different forms of MD including Doyne honeycomb retinal dystrophy (DHRD) and age-related MD (AMD). "

Therapies and Procedures

1.	Lasers (Laser) 01/01/2023 - "Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series." 01/10/2019 - "A 43-year-old Caucasian man with moderate loss of visual acuity in his left eye (20/40) and normal visual acuity in his right eye (20/20), with clinical Doyne honeycomb retinal dystrophy diagnosis and genetic confirmation of the common heterozygous mutation (EFEMP1) by genetic testing, underwent nanopulse subthreshold laser treatment in his left eye. " 01/10/2019 - "Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report." 08/01/1998 - "Fundus autofluorescence was documented in 343 eyes of 199 subjects with macular dystrophies, malattia leventinese, dominant drusen and age-related macular degeneration using a laser scanning ophthalmoscope (Zeiss, Oberkochen; excitation wavelength: 488 nm, barrier filter at 521 nm). "
2.	Therapeutics 01/01/2016 - "Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies." 12/01/2011 - "Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy."