|Year : 1978 | Volume
| Issue : 1 | Page : 25-26
Laurence Moon Bardet Biedl Syndrome (A typical presentation)
RK Batta, G Mukherjee
Dr. Rajendra Prasad Centre for Ophthalmic Sciences Ansari Nagar, New Delhi, India
R K Batta
Dr. Rajendra Prasad Centre for Ophthalmic Sciences Ansari Nagar, New Delhi
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Batta R K, Mukherjee G. Laurence Moon Bardet Biedl Syndrome (A typical presentation). Indian J Ophthalmol 1978;26:25-6
|How to cite this URL:|
Batta R K, Mukherjee G. Laurence Moon Bardet Biedl Syndrome (A typical presentation). Indian J Ophthalmol [serial online] 1978 [cited 2019 Dec 12];26:25-6. Available from: http://www.ijo.in/text.asp?1978/26/1/25/31452
Retinal pigmentary dystrophy, hypogenitalism and mental retardation was first reported by Laurence and Moon. Horing reported polydactyly with features of Laurence Moon syndrome. Variants of this syndrome have been reported in the literature with systemic and ocular malformations by many workers. Rapid loss of vision has not been reported in the literature. This is a case of complete form of Laurence Moon Bardet Biedl Syndrome with rapid loss of vision.
| Case Report|| |
A male patient aged 15 years attended the Uvea Clinic at R.P. Centre with complaints of rapid loss of vision both eyes in one month time, following an attack of high fever. The patient was suffering from night blindness and diminution of vision both eyes since childhood, and multiple fingers in both hands. 7 years back he was operated on hands and right foot, family history was non contributory. On examination, the patient is obese [Figure - 1], short statured with mental retardation and accessory toe in left foot [Figure - 2]. Scar marks on the lateral side of both hands [Figure - 1] and right foot [Figure - 3]. Genitals are underdeveloped.
Ocular Examination revealed perception of light with inaccurate projection. Pupils were semi dilated, sluggishly reacting, posterior subcapsular opacity with polychromatic luster in the lens. Fundus examination revealed waxy pallor of the discs marked attenuation of arteries. Heavy accumulation of bone corpuscular type of pigment along the blood vessels all over and more so in the equatorial region. X-Ray skull and S.T.S. were normal. E.R.G. gave a flat response.
| Discussion|| |
A complete form of this syndrome for the first time was noted by Bardet and Bied1. They reported cases having pigmentary dystropy hypogenitalism, obesity, polydactyly and mental deficiency. Complete form of this syndrome is very rare. So far 330 cases have been reported in the literature, out of which one seventh of cases have shown a complete picture. Agarwal and Dada' reported a case of incomplete form of Laurence Moon Biedl Syndrome with atypical pigmentary retinopathy and well developed secondary sex characters. Nirankari et al reported sporadic cases of this syndrome. Ganguli reported two cases of Laurence Moon Bardet Biedl Syndrome, Nag et al reported a sporadic case, having all the features of complete syndrome with iris coloboma.
The present case has all the features o complete form with complicated cataract in both eyes. The atypical feature in this case is, rapid loss of vision in both the eyes. So far rapid deterioration of vision has not been reported in the literature with this syndrome. This patient had past history of night blindness with defective vision. The patient had an attack of high fever without any chill and rigor, before he lost his vision-in both eyes. The possible explanation of rapid loss of vision could be, that there was an acute exacerbation of the chronic lesion which was triggered by attack of fever . Other possibility could be an attack of retrobulbar neuritis following the attack of fever. Hereditary factor is absent in this case, but sporadic cases are reported in the literature. ,,,
| Summary|| |
A sporadic case of complete form of Laurence Moon Bardet Biedl Syndrome with rapid loss of vision is reported.
| References|| |
Agarwal L.P. and Dada V.K., 1969, Orient Arch. Ophthal. 7, 183.
Duke Elder S., 1967, System of Ophthal., 10, 582,
Henry Kimpton, London.
Ganguli D., 1975, Bengal Ophthal. Jour., 3, 1 23.
Mehra K.S., Gupta R.B.L. and Dayal Y., 1962,Brit. J. Ophthal., 46, 56.
Nag S.G., Sood N.N. and Dayal, Y., 1975, East.Arch. Ophthal., 3, 1, 39.
Nirankari M.S., Manchanda S.S. and Mudgal M.C., 1960, Amer. J. Ophthal., 49, 1410.
[Figure - 1], [Figure - 2], [Figure - 3]