Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

PURPOSE: Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India. MATERIAL AND METHODS: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all 'at risk' relatives of a patient harbouring the mutation.

Lymphatic leishmaniasis associated with visceral leishmaniasis.

Lymphatic leishmaniasis associated with visceral leishmaniasis is rare in India. We are reporting one such case, which is the first case reported so far from Bihar.

Changing response to diamidine compounds in cases of kala-azar unresponsive to antimonial.

Two hundred and forty patients of kala-azar unresponsive to antimonial were treated with pentamidines in a dose of 4 mg/kg body weight on alternate days for 20 injections. Of these, 175 were treated with pentamidine isethionate and 65 with pentamidine methane sulphonate (Lomidine). Clinical and parasitological cure were significantly higher with lomidine as compared to pentamidine isethionate. However, cardiovascular, gastrointestinal and metabolic toxicity including hyperglycaemia were more marked with lomidine. Mortality rate was also significantly (P less than .05) higher with lomidine therapy. Significantly lower clinical and parasitological cure and higher relapse rate were observed in the present study compared with an earlier study in which pentamidine was used in the same doses for 10-12 injections only.

Ultrasonic errors in analysis of vitreous haemorrhage.

Pre-vitrectomy errors in diagnostic A & B mode ultrasound may result in affection of the surgical outcome. We have done a retrospective analysis of fifty patients who were screened by both A & B mode echography and analyzed the data which revealed that real-time kinetic echography is required for accurate interpretation of the vitreoretinal status. Besides, quantitative A scan examination also has fallacies due to the echo beam not striking the sclerochoroid complex at right angles, and a modification of this technique is suggested. Lastly old retinal detachments may not produce echo-patterns diagnostic of retinal detachments resulting in fallacious interpretation. We recommend that combined A mode and real time B-mode and often repeat echography is essential for accuracy in diagnosis.