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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). ...
An Arg345Trp (R345W) mutation in F3 was identified as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb …
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 n …
A point mutation in EFEMP1 causes an inherited early-onset form of macular degeneration called Malattia Leventinese/Doyne honeycom …
Misfolded proteins and retinal dystrophies.
Lin JH, Lavail MM. Lin JH, et al. Adv Exp Med Biol. 2010;664:115-21. doi: 10.1007/978-1-4419-1399-9_14. Adv Exp Med Biol. 2010. PMID: 20238009 Free PMC article. Review.
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 thei …
Here, we review the misfolded proteins associated with select types of retinitis pigmentosa, Stargadt-like macular degeneration, and Doyn …
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 ( …
Pathological changes in the ECM of Bruch's membrane have been described in both monogenic IRDs, such as Sorsby fundus dystrophy (SFD) and …
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD).
Ramkumar HL, Zhang J, Chan CC. Ramkumar HL, et al. Prog Retin Eye Res. 2010 May;29(3):169-90. doi: 10.1016/j.preteyeres.2010.02.002. Epub 2010 Mar 3. Prog Retin Eye Res. 2010. PMID: 20206286 Free PMC article. Review.
First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb …
First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include ab …
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature.
Konstantinou EK, Shaikh N, Ramsey DJ. Konstantinou EK, et al. Ophthalmic Genet. 2023 Apr;44(2):175-181. doi: 10.1080/13816810.2021.1961281. Epub 2021 Aug 6. Ophthalmic Genet. 2023. PMID: 34353225 Review.
Genetic testing confirmed a deletion mutation in the folliculin (FLCN) gene and was negative for other relevant mutations, including EFEMP1 responsible for autosomal dominant macular and peripapillary drusen in Doyne honeycomb retinal dystrophy and TIM …
Genetic testing confirmed a deletion mutation in the folliculin (FLCN) gene and was negative for other relevant mutations, including EFEMP1 …
Genetic susceptibility to age related macular degeneration.
Yates JR, Moore AT. Yates JR, et al. J Med Genet. 2000 Feb;37(2):83-7. doi: 10.1136/jmg.37.2.83. J Med Genet. 2000. PMID: 10662806 Free PMC article. Review.
Studies of the genes responsible for autosomal dominant Sorsby fundus dystrophy, Doyne honeycomb retinal dystrophy, and Best disease have given negative results. ...
Studies of the genes responsible for autosomal dominant Sorsby fundus dystrophy, Doyne honeycomb retinal dystrophy …
Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
Marmorstein L. Marmorstein L. Ophthalmic Genet. 2004 Sep;25(3):219-26. doi: 10.1080/13816810490498305. Ophthalmic Genet. 2004. PMID: 15512998 Review.
Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) was the first clinically and histopathologically described Mendelian maculopathy. ...
Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) was the first clinically and histopatholog …