Fundus Albipunctatus (RDH5)

Fundus albipunctatus is a rare autosomal recessive disorder caused by pathogenic variants in the gene RDH5. The age of onset of this disorder is childhood. This disorder is characterized by night blindness, multiple whitish-yellow flecks in the retina, trouble adjusting from bright light to dark conditions, and macular dystrophy. No clear genotype/phenotype correlations have been documented. Life expectancy is normal.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):