The Laurence-Moon-Biedl syndrome as presently defined consists of retinitis pigmentosa, polydactylism, obesity, hypogonadism, and mental deficiency.1-3 In completely developed cases, there is little problem in diagnosis. However, the diagnosis may become difficult in incomplete or atypical forms of the syndrome, particularly those associated with other abnormalities and those with negative family history.
It has been noted that only about 15% of patients with the Laurence-Moon-Biedl syndrome have the typical ophthalmoscopic appearance of retinitis pigmentosa. Almost all of the patients, however, do develop night blindness, which indicates the presence of a diffuse disturbance of retinal function in this disease.4
It is the purpose of this report to call attention to the use of electroretinography to detect the basic retinal disturbance in the Laurence-Moon-Biedl syndrome. Four patients recently seen in our clinics demonstrate the value of this technique to establish the diagnosis of the Laurence-Moon-Biedl syndrome in the absence of
KRILL AE, FOLK E, ROSENTHAL IM. Electroretinography in the Laurence-Moon-Biedl Syndrome: An Aid in Diagnosis of the Atypical Case. Am J Dis Child. 1961;102(2):205–209. doi:10.1001/archpedi.1961.02080010207009
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