Achromatopsia. Clinical diagnosis and treatment.
Six cases of classic achromatopsia are presented. The methods of practical clinical diagnosis are discussed, including paradoxical pupillary constriction in darkness, the easily performed Sloan achromatopsia test, and electrophysiologic studies which are useful in young children. The visual and cosmetic benefits of heavily tinted contact lenses in such patients are stressed.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D003261:Contact Lenses / Q000592:standards*; D005139:Eyeglasses; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications / Q000235:genetics; D012030:Refractive Errors / Q000150:complications; D013285:Strabismus / Q000150:complications; D014794:Visual Fields