Pigmentary retinal dystrophy

Common Name(s)

Pigmentary retinal dystrophy

This form of fleck retina disease (see {228980}) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested ({5:Krill and Folk, 1962}; {4:Krill, 1977}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pigmentary retinal 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 "Pigmentary retinal dystrophy" returned 5 free, full-text research articles on human participants. First 3 results:

Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.
 

Author(s): Kenan Sonmez, Pehmen Y Ozcan

Journal:

 

To report clinical features of bilateral angle-closure glaucoma in a patient with nanophthalmic eyes associated with ocular cystinosis, foveoschisis and pigmentary retinal dystrophy. This is probably the first published report of the possible association of all these five entities ...

Last Updated: 14 Sep 2012

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A case of myotonic dystrophy with pigmentary retinal changes.
 

Author(s): Ungsoo Samuel Kim, Ji Soo Kim, Jeong-Min Hwang

Journal: Korean J Ophthalmol. 2009 Jun;23(2):121-3.

 

A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed ...

Last Updated: 1 Jul 2009

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Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome.
 

Author(s): A K Mandal, T Das, V K Gothwal

Journal: Indian J Ophthalmol. 2001 Dec;49(4):271-2.

 

The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystrophy documented in the present case represents a rare syndrome.

Last Updated: 21 Aug 2003

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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 "Pigmentary retinal dystrophy" returned 1 free, full-text review articles on human participants. First 3 results:

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
 

Author(s): A Michalik, J-J Martin, C Van Broeckhoven

Journal: Eur. J. Hum. Genet.. 2004 Jan;12(1):2-15.

 

Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized by gradual loss of motor coordination, resulting from dysfunction and degeneration of the cerebellum and its connecting pathways. The disease is caused by ...

Last Updated: 5 Jan 2004

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2014

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