Objective      To investigate the relationship between genotypes and phenotypes in hereditary retinal dystrophy (HRD) associated with adenosine triphosphate-binding cassette

subfamily A

member 4 (ABCA4) gene mutation.        Methods      Six irrelevant probands with ABCA4 gene mutation

who were diagnosed in our hospital from January 2013 to July 2015

were included in this study. The correlation between the genotypes and phenotypes was investigated based on the genetic testing results and ophthalmic examinations including silt lamp examination

visual acuity testing

fundus photography

fundus fluorescein angiography (FFA)

optical coherence tomography (OCT)

full-field electroretinography (FERG)

and multifocal electroretinography (mfERG).        Results      Three irrelevant probands were diagnosed with Stargardt disease

2 with autosomal recessive retinitis pigmentosa (rod-cone dystrophy) and 1 with cone dystrophy. Mutation of probands 2 and 6 was homozygote

and that of probands 1

3

4 and 5 was heterozygote. The foveal thickness was reduced in all the specimens

and it showed varying modification in different individuals. In addition

FERG and mfERG showed reduced amplitude and prolonged implicit time in all the probands. These symptoms were especially serious in the probands diagnosed with retinitis pigmentosa.        Conclusion      ABCA4 gene mutation can produce different clinical phenotypes. The symptom severity of different individuals is variant even if the probands have the same mutation mode or the same clinical diagnosis.