November 1960

Congenital Total Color BlindnessA Clinicopathological Report

Author Affiliations

From the Massachusetts Eye and Ear Infirmary; the Neurological Unit, Boston City Hospital; the Departments of Ophthalmology and Neurology, Harvard Medical School and the Department of Pediatrics, Boston University School of Medicine and Boston City Hospital. This work was supported in part by Grant No. S-84-S58C from The United Cerebral Palsy Research and Educational Foundation, Inc.

Arch Ophthalmol. 1960;64(5):685-692. doi:10.1001/archopht.1960.01840010687010

Introduction  It is the purpose of this communication to record the occurrence of congenital total color blindness, or achromatopsia, in 2 brothers. In addition, one of the patients suffered from peroneal muscular atrophy (Charcot-Marie-Tooth disease), and the death of the second patient afforded the opportunity to study the retinal histology.The data presented do not purport to represent a comprehensive investigation of the visual functions of the classical congenital achromat, but the clinical diagnosis in our cases was certain and the results of the physiologic tests which were performed are consistent with the view that such patients probably have two types of functional retinal receptors.

Case Reports 

Case 1.  —A 21-year-old mechanic was admitted to the Neurological Service of the Boston City Hospital because of difficulty in walking of about 5 to 6 years' duration.The patient had always been in good general health. His growth and development in infancy

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