scholarly journals ThePROM1Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

2010 ◽  
Vol 51 (9) ◽  
pp. 4771 ◽  
Author(s):  
Michel Michaelides ◽  
Marie-Claire Gaillard ◽  
Pascal Escher ◽  
Leila Tiab ◽  
Matthew Bedell ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Macular Dystrophy ◽  
Bull’S Eye Maculopathy ◽  
Bull's Eye

An Autosomal Dominant Bull’s-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4

2003 ◽  
Vol 44 (4) ◽  
pp. 1657 ◽  
Author(s):  
Michel Michaelides ◽  
Samantha Johnson ◽  
Arabella Poulson ◽  
Keith Bradshaw ◽  
Caren Bellmann ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Macular Dystrophy ◽  
Chromosome 4 ◽  
Bull's Eye

scholarly journals Case series of Stargardt's disease: Our experience

2016 ◽  
Vol 7 (2) ◽  
pp. 147
Author(s):  
Syed Abdul Wadud ◽  
Muntasir Bin Shahid ◽  
Sumon Afroz
Keyword(s):  
Retinal Pigment Epithelium ◽  
Macular Degeneration ◽  
Autosomal Recessive ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Series ◽  
Macular Dystrophy ◽  
Stargardt Disease ◽  
Bull’S Eye Maculopathy ◽  
Bull's Eye

<p>Stargardt disease is the most common form of juvenile macular degeneration. Clinically, it is characterized by pisciform flecks at lhe level of the retinal pigment epithelium and a bull's-eye maculopathy. Inheritance is usually autosomal recessive, although dominantly inherited case have been described. Both sexes are affected equally. We reported here three cases of Stargardt's macular dystrophy, who are siblings and daughters of non consanguineous parents. In case-1,2 and 3 we found the typical presentation with almost same findings.</p>

scholarly journals A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

2006 ◽  
Vol 43 (12) ◽  
pp. e57-e57 ◽  
Author(s):  
Z Yang ◽  
G Kitsos ◽  
Z Tong ◽  
M Payne ◽  
S Gorezis ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Macular Dystrophy

Clinical Spectrum in Autosomal Dominant Stargardt’s Macular Dystrophy with a Mutation in ELOVL4 Gene

2001 ◽  
pp. 1-9
Author(s):  
Yang Li ◽  
Linda A. Lam ◽  
Zhengya Yu ◽  
Zhenglin Yang ◽  
Paul Bither ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Spectrum ◽  
Macular Dystrophy

Bull's-Eye Maculopathy

2009 ◽  
Vol 360 (21) ◽  
pp. 2224-2224 ◽  
Author(s):  
Hugo Mesquita Nogueira ◽  
Rita Dinis Gama
Keyword(s):  
Bull’S Eye Maculopathy ◽  
Bull's Eye
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