Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)

1999 ◽  
Vol 104 (1) ◽  
pp. 77-82 ◽  
Author(s):  
Sana Kermani ◽  
Kevin Gregory-Evans ◽  
E. E. Tarttelin ◽  
James Bellingham ◽  
Catherine Plant ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Doyne Honeycomb Retinal Dystrophy

The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy

2021 ◽  
Author(s):  
Nobuko Enomoto ◽  
Takaaki Hayashi ◽  
Tomokazu Matsuura ◽  
Koji Tanaka ◽  
Remi Takeuchi ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Japanese Family ◽  
Malattia Leventinese ◽  
Doyne Honeycomb Retinal Dystrophy

MALATTIA LEVENTINESE/DOYNE HONEYCOMB RETINAL DYSTROPHY IN A CHINESE FAMILY WITH MUTATION OF THE EFEMP1 GENE

Retina ◽  
2014 ◽  
Vol 34 (12) ◽  
pp. 2462-2471 ◽  
Author(s):  
Ting Zhang ◽  
Xuelu Xie ◽  
Guiqun Cao ◽  
Haiou Jiang ◽  
Sisi Wu ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Chinese Family ◽  
Malattia Leventinese ◽  
Doyne Honeycomb Retinal Dystrophy

Familial Drusen, Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese), Pigmented Paravenous Chorioretinal Atrophy and Late-Onset Retinal Degeneration

2021 ◽  
pp. 243-251
Keyword(s):  
Retinal Degeneration ◽  
Vision Loss ◽  
Late Onset ◽  
Retinal Dystrophy ◽  
Gene Mutations ◽  
Disease Process ◽  
Clinical Findings ◽  
Central Vision ◽  
Malattia Leventinese ◽  
Doyne Honeycomb Retinal Dystrophy

Inherited retinal diseases are a group of rare, heterogeneous eye disorders caused by gene mutations that result in degeneration of the retina. Malattia Leventinese, also known as familial drusen, dominant drusen, or Doyne honeycomb retinal dystrophy, was first described in patients living in the Levantine Valley in canton Ticino of southern Switzerland in 1925. Characteristic clinical findings include radial macular drusen, large confluent drusen, and juxtapapillary drusen. Especially early visual symptoms typically starting in the 3rd and 5th decades include reduced central vision, photophobia, and metamorphopsia. Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symmetric. The autosomal- dominant late-onset retinal degeneration (L-ORD), caused by C1QTNF5 gene mutations, shows typical retinal abnormalities that can extend beyond the macula, and patients can report night blindness in addition to central vision loss. Interestingly, L-ORD patients can have long anteriorly inserted lens zonules and loss of iris pigment.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

10.1038/9722 ◽  
1999 ◽  
Vol 22 (2) ◽  
pp. 199-202 ◽  
Author(s):  
Edwin M. Stone ◽  
Andrew J. Lotery ◽  
Francis L. Munier ◽  
Elise Héon ◽  
Bertrand Piguet ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Malattia Leventinese ◽  
Doyne Honeycomb Retinal Dystrophy

scholarly journals Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Kaiyan Zhang ◽  
Xuyang Sun ◽  
Yingying Chen ◽  
Qionglei Zhong ◽  
Lin Lin ◽  
...  
Keyword(s):  
Retinal Dystrophy ◽  
Chinese Family ◽  
Malattia Leventinese ◽  
Doyne Honeycomb Retinal Dystrophy

scholarly journals Doyne honeycomb retinal dystrophy – functional improvement following subthreshold nanopulse laser treatment: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Andrea Cusumano ◽  
Benedetto Falsini ◽  
Emiliano Giardina ◽  
Raffaella Cascella ◽  
Jacopo Sebastiani ◽  
...  
Keyword(s):  
Case Report ◽  
Laser Treatment ◽  
Retinal Dystrophy ◽  
Functional Improvement ◽  
Doyne Honeycomb Retinal Dystrophy

scholarly journals Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration

2011 ◽  
Vol 22 (24) ◽  
pp. 4765-4775 ◽  
Author(s):  
John D. Hulleman ◽  
Shalesh Kaushal ◽  
William E. Balch ◽  
Jeffery W. Kelly
Keyword(s):  
Matrix Protein ◽  
Retinal Dystrophy ◽  
Extracellular Matrix Protein ◽  
Macular Dystrophy ◽  
Gaussia Luciferase ◽  
Disulfide Bonding ◽  
Cellular Environment ◽  
Luminescence Assay ◽  
Epidermal Growth ◽  
Doyne Honeycomb Retinal Dystrophy

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). To understand the influence of the protein homeostasis (or proteostasis) network in rescuing mutant EFEMP1 misfolding and inefficient secretion linked to ML/DHRD, we developed a convenient and sensitive cell-based luminescence assay to monitor secretion versus intracellular accumulation. Fusing EFEMP1 to Gaussia luciferase faithfully recapitulates mutant EFEMP1 secretion defects observed previously using more cumbersome methodology. To understand what governs mutant intracellular retention, we generated a series of R345 mutants. These mutants revealed that aromatic residue substitutions (i.e., Trp, Tyr, and Phe) at position 345 cause significant EFEMP1 secretion deficiencies. These secretion defects appear to be caused, in part, by reduced native disulfide bonding in domain 6 harboring the 345 position. Finally, we demonstrate that mutant EFEMP1 secretion and proper disulfide formation are enhanced by adaptation of the cellular environment by a reduced growth temperature and/or translational attenuation. This study highlights the mechanisms underlying the inefficient secretion of R345W EFEMP1 and demonstrates that alteration of the proteostasis network may provide a strategy to alleviate or delay the onset of this macular dystrophy.

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