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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1903 1
1937 1
1957 1
1967 1
1968 2
1970 3
1975 1
1976 2
1977 1
1978 1
1979 2
1980 1
1981 1
1982 2
1983 1
1984 1
1985 3
1987 1
1988 1
1989 3
1990 2
1991 1
1992 2
1993 2
1994 2
1995 3
1996 4
1997 5
1998 4
1999 9
2000 6
2001 4
2002 8
2003 4
2004 2
2005 5
2006 5
2007 6
2008 5
2009 6
2010 7
2011 5
2012 6
2013 6
2014 6
2015 5
2016 6
2017 4
2018 4
2019 5
2020 6
2021 11
2022 3
2023 9
2024 3

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183 results

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Page 1
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M. Rahman N, et al. Br J Ophthalmol. 2020 Apr;104(4):451-460. doi: 10.1136/bjophthalmol-2019-315086. Epub 2019 Nov 8. Br J Ophthalmol. 2020. PMID: 31704701 Free PMC article. Review.
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. It highlights the range of innovations in retinal imaging, genotype- …
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystroph …
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:97-102. doi: 10.1007/978-3-319-95046-4_18. Adv Exp Med Biol. 2018. PMID: 30578491 Review.
In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. ...The periphery is usually spared. Drusen increase in size and number with age. Peripapillary drusen are a characteristic finding. …
In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. ...The …
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
Hulleman JD. Hulleman JD. Adv Exp Med Biol. 2016;854:153-8. doi: 10.1007/978-3-319-17121-0_21. Adv Exp Med Biol. 2016. PMID: 26427406 Review.
An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD). ML/DHRD shares many phenotypic similarities with age-related macular degeneration (AMD). The most pr …
An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne …
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
Sheyanth IN, Lolas IB, Okkels H, Kiruparajan LP, Abildgaard SK, Petersen MB. Sheyanth IN, et al. Mol Genet Genomic Med. 2021 Apr;9(4):e1652. doi: 10.1002/mgg3.1652. Epub 2021 Mar 10. Mol Genet Genomic Med. 2021. PMID: 33689237 Free PMC article.
BACKGROUND: 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 …
BACKGROUND: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progres …
Malattia leventinese (familial dominant drusen).
Tabuenca Del Barrio L, Izaguirre Roncal L, Arrondo Nicolás Á, Irigoyen Aznarez E, Rojas Zuasti R, Azanza Barbarin S, Sarasate Zabalza MJ. Tabuenca Del Barrio L, et al. J Fr Ophtalmol. 2022 Jan;45(1):144-146. doi: 10.1016/j.jfo.2021.06.020. Epub 2021 Nov 26. J Fr Ophtalmol. 2022. PMID: 34844779 No abstract available.
The Pathophysiological Significance of Fibulin-3.
Livingstone I, Uversky VN, Furniss D, Wiberg A. Livingstone I, et al. Biomolecules. 2020 Sep 8;10(9):1294. doi: 10.3390/biom10091294. Biomolecules. 2020. PMID: 32911658 Free PMC article. Review.
A point mutation in EFEMP1 causes an inherited early-onset form of macular degeneration called Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD). EFEMP1 genetic variants have also been associated in genome-wide association studies with numerous …
A point mutation in EFEMP1 causes an inherited early-onset form of macular degeneration called Malattia Leventinese/Doyne …
Retinal Pattern Dystrophy.
Ahmed H, Sierpina DI, Khazaeni L. Ahmed H, et al. 2023 Jul 16. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 16. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 35881734 Free Books & Documents.
Retinal pattern dystrophies are a slowly progressive heterogeneous group of primarily autosomal dominantly inherited macular diseases whose unifying element involves the deposition of pigment in the retinal pigment epithelium (RPE) of the macula. ...The appearance of patte …
Retinal pattern dystrophies are a slowly progressive heterogeneous group of primarily autosomal dominantly inherited macular diseases …
The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.
Biasella F, Plössl K, Baird PN, Weber BHF. Biasella F, et al. Front Immunol. 2023 Mar 1;14:1147037. doi: 10.3389/fimmu.2023.1147037. eCollection 2023. Front Immunol. 2023. PMID: 36936905 Free PMC article. Review.
Pathological changes in the ECM of Bruch's membrane have been described in both monogenic IRDs, such as Sorsby fundus dystrophy (SFD) and Doyne honeycomb retinal dystrophy (DHRD), as well as in the genetically complex age-related macular degeneration (AMD) or diabetic reti …
Pathological changes in the ECM of Bruch's membrane have been described in both monogenic IRDs, such as Sorsby fundus dystrophy (SFD) and …
Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F. Zhang T, et al. Retina. 2014 Dec;34(12):2462-71. doi: 10.1097/IAE.0000000000000259. Retina. 2014. PMID: 25111685
Increased autofluorescence corresponding to the drusen was detected in the R345W mutation patients. Intrafamilial patients with Malattia leventinese/Doyne honeycomb retinal dystrophy seem to be phenotypically variable in visual loss, ophthalmoscopic fi …
Increased autofluorescence corresponding to the drusen was detected in the R345W mutation patients. Intrafamilial patients with Ma …
Mapping wild-type and R345W fibulin-3 intracellular interactomes.
Hulleman JD, Genereux JC, Nguyen A. Hulleman JD, et al. Exp Eye Res. 2016 Dec;153:165-169. doi: 10.1016/j.exer.2016.10.017. Epub 2016 Oct 21. Exp Eye Res. 2016. PMID: 27777122 Free PMC article. Review.
An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The purpose of this study was to identify and validate novel intracellular interacting partners of wild-type (WT) and R345W F3 in retinal pigment …
An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The pu …
183 results