Flecked Retina Syndromes

Background and History: 

There is a group of diseases characterized by yellow-white dots in the retina (the tissue lining the inside of the eye that responds to light).  These have not been well characterized clinically but night blindness is a symptom in some but not all entities in this category of disease.

Clinical Correlations: 

Night blindness is common in these disorders.  It may be stationary or progressive.  Some patients experience loss of daytime vision as well but others do not.  This group of flecked retina disorders, so named because of the appearance of yellowish/white spots in the retina (the light sensing tissue in the eye).


This category of disease consists of at multiple types and genetic studies suggest that more may be found.  These conditions may be inherited in an autosomal dominant or an autosomal recessive pattern (see model pedigrees).  Mutations in several genes are involved.

Diagnosis and Prognosis: 

These disorders can only be diagnosed by an ophthalmologist based on the history, appearance of the retina, and results of an electroretinogram (ERG) test.  No systemic disease is associated with these conditions.  Recent reports indicate that high oral doses of beta-carotene may lead to an improvement in night blindness.  Low vision aids are available for those with vision loss but these are not needed in many patients.

Additional Information
Autosomal dominant
Autosomal recessive