Report of a case resembling the 'fleck retina of Kandori' with ectodermal peculiarities and macula degeneration.
This report involves the case of a 36-year-old woman followed-up for nine years. The symptoms include unique, sharply-defined, irregular, yellow, large flecks of the retina combined with bilateral macula degeneration. The patient's rusty-red hair, enamel dysplasia, and ashen-gray skin color were also noted. It is argued that this case is very likely identical with the 'fleck retina of Kandori' and as such, the first case reported outside Japan. The literature is reviewed.
D000328:Adult; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000473:pathology*; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000473:pathology*; D012877:Skin Manifestations; D012880:Skin Pigmentation; D013577:Syndrome