Macular Dystrophy

Common Name(s)

Macular Dystrophy

Macular dystrophy is a genetic eye disorder that causes vision loss. It causes damage to the area of the eye called the macula, which is responsible for central vision. When the macula is damaged, people have trouble seeing straight ahead. Vision becomes blurry and distorted. However, side (peripheral) vision is not affected. Vision slowly worsens over time. Unfortunately, there is no treatment available for macular dystrophy at this time. However, promising new research is currently being conducted.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Macular Dystrophy" for support, advocacy or research.

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Macular Dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Macular Dystrophy" returned 140 free, full-text research articles on human participants. First 3 results:

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.
 

Author(s): Shin Hae Park, Ye Jin Ahn, Hyojin Chae, Yonggoo Kim, Man Soo Kim, Myungshin Kim

Journal:

 

To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD).

Last Updated: 25 Nov 2015

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North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
 

Author(s): Kent W Small, Adam P DeLuca, S Scott Whitmore, Thomas Rosenberg, Rosemary Silva-Garcia, Nitin Udar, Bernard Puech, Charles A Garcia, Thomas A Rice, Gerald A Fishman, Elise Héon, James C Folk, Luan M Streb, Christine M Haas, Luke A Wiley, Todd E Scheetz, John H Fingert, Robert F Mullins, Budd A Tucker, Edwin M Stone

Journal: Ophthalmology. 2016 Jan;123(1):9-18.

 

To identify specific mutations causing North Carolina macular dystrophy (NCMD).

Last Updated: 28 Dec 2015

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Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
 

Author(s): Mohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil, James A Poulter, , Colin A Johnson, Ian M Carr, Bart P Leroy, Elfride De Baere, Chris F Inglehearn, Andrew R Webster, Carmel Toomes, Manir Ali

Journal: Am. J. Hum. Genet.. 2015 Jun;96(6):948-54.

 

Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. Here we describe five families affected by an adult-onset retinal dystrophy with early macular involvement and associated central visual loss in the ...

Last Updated: 6 Jun 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Macular Dystrophy" returned 2 free, full-text review articles on human participants. First 3 results:

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature.
 

Author(s): Alejandra Daruich, Alexandre Matet, François-Xavier Borruat

Journal:

 

The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness). Both MELAS and MIDD patients can present with visual symptoms ...

Last Updated: 17 Jun 2014

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Macular corneal dystrophy. Studies of sulfated glycosaminoglycans in corneal explant and confluent stromal cell cultures.
 

Author(s): G K Klintworth, C F Smith

Journal: Am. J. Pathol.. 1977 Oct;89(1):167-82.

 

The inherited disorder macular corneal dystrophy (MCD), a localized corneal mucopolysaccharidosis, is currently thought to result from an inability to catabolize corneal keratan sulfate (keratan sulfate 1). As studies on isolated cells have provided insight into metabolic abnormalities ...

Last Updated: 30 Nov 1977

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 20 Apr 2016

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