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Fleck Retina, Benign Familial

Fleck Retina, Benign Familial

Patient Information

Characteristics

Background and History

This condition belongs to a group of disorders called flecked retina syndromes.  These may be primarily ocular disorders but also includes some systemic disorders with a similar appearance of the retina (the light sensing tissue that lines the inside of the eye and connects to the brain).  The disorder described here is called benign since it does not affect vision, day or night.

Clinical Correlations

Small, discrete yellowish-white dots are seen throughout most of the retina except they are absent from the macula, the area with the highest concentration of light receptor cells, known as rods and cones.  They have been seen in several children during the first decade of life and may be present at birth.  Vision is normal in all individuals examined.  Specialized studies of the retina using an electroretinogram (ERG) have been unable to detect any abnormalities of function.

 

Genetics

Inheritance

This is a rare, autosomal recessive disorder.  The parents are normal but each can transmit a mutant gene.  When their offspring inherit both copies, benign familial fleck retina can result.  The risk for this is 25% for each child.

Pedigree

Autosomal recessive

In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent.  Carriers with only one mutation, such as the parents, do not have clinical disease.  Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.

Sample pedigree of autosomal recessive inheritance

In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.

Diagnosis and Prognosis

The diagnosis is made by an ophthalmologist, usually during a routine examination since there are no symptoms.  There is no visual dysfunction or impact on general health.

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