Cohen syndrome with bull's eye macular lesion.
The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, obesity, mental deficiency, and facial, oral and ocular anomalies. During a twelve-year period of observation, the authors' patient manifested pigmentary retinal degeneration and a bull's eye macular lesion. The Cohen syndrome must be included in the differential diagnosis of syndromes with retinitis pigmentosa.
K
K
Resnick
J
J
Zuckerman
E
E
Cotlier
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome