Retinopathy with Neutropenia

Background and History: 

There are many causes of retinal disease and low white cell numbers (neutropenia) individually but few conditions have both features.

Clinical Correlations: 

Only one patient has been reported with retinopathy and variable neutropenia. This female had evidence of growth retardation and a small head (microcephaly) at birth. This individual had normal speech and motor (movement) development. There was no evidence of intellectual disability. From childhood this patient had multiple episodes of respiratory and gum infections. As an adult, she was short in stature. The number of white cells circulating was usually below normal to some degree.

This patient had mildly subnormal vision and she was found as an adult to have pigmentary changes in her retinas. A test of retinal function (electroretinogram) revealed subnormal responses of rods and cones, the retinal cells that respond to light.


This is likely an autosomal recessive disorder since the single reported patient had two different mutations in the same gene and each parent had a single mutation.

The mutated gene is the same one that is mutated in a condition known as Cohen syndrome. However, the clinical features of the latter syndrome include significant intellectual disability, obesity and excessive joint mobility, and facial features not present in the condition described here. Whether or not the disorder described here is the same as Cohen syndrome is uncertain at the present time.

Diagnosis and Prognosis: 

The single reported individual was last seen at age 33 years and was functioning well, having completed high school without social or behavioral problems.

Additional Information
Autosomal recessive