Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.

The authors report the clinical features and the results of genetic and biochemical studies of a child affected by ND1/3460 Leber's hereditary optic neuropathy, who demonstrates a persistent visual recovery after protracted monitoring. A 10-year-old male suffered from a severe right visual impairment that was incidentally detected. Within 2 months the left eye was also seriously involved, and visual acuity worsened to 20/300 in both eyes, associated with bilateral cecocentral scotomas and dyschromatopsia. During the following months a progressive visual improvement occurred, and 2 years later the visual acuity was 20/20 OU. After 9 years of follow-up the clinical status is unchanged. The mutation at np ND1/3460 was found to be virtually homoplasmic in the proband's mtDNA, which was extracted either from platelets or leukocytes, whereas the mother and the sister tested heteroplasmic for the same mutation. The specific activity of complex I in platelets was reduced in the proband and normal in his relatives. An abnormal resistance of NADH:ubiquinone reductase to the inhibitory effect of rotenone was found in platelet mitochondria from the proband and family members and was consistent with the degree of heteroplasmy. This pattern of biochemical abnormalities suggests a cumulative effect of the increasing percentage of mutated mtDNA on complex I function, which involves the interaction between complex I and its substrate ubiquinone in the heteroplasmic condition (asymptomatic state), and the catalytic function of complex I, as mutated mDNA turns toward the homoplasmic condition (symptomatic state).

Nedocromil sodium and astemizole, alone or combined, in the treatment of seasonal allergic conjunctivitis. A multicentre double blind clinical trial.

Two hundred and seven patients with active symptoms of allergic conjunctivitis were studied in a four-week multicentre double blind, double dummy, clinical trial comparing efficacy and safety of nedocromil sodium eye drops with oral astemizole, placebo, and the combined active treatments. Clinical signs were evaluated by clinicians after 1, 2 and 4 weeks, while symptoms were recorded by patients on daily diary cards. Overall opinions were recorded at the end of treatment. Nedocromil sodium eye drops and astemizole, alone or combined, significantly reduced ocular symptoms when compared to placebo (diary card total symptom score and patients' opinion). In the clinicians' opinion nedocromil sodium alone or combined (but not astemizole alone) significantly decreased ocular symptoms when compared to placebo. All treatments were safe and well tolerated, drowsiness being the most frequent side effect observed in patients treated with astemizole. These results indicate the effectiveness of nedocromil sodium eye drops in the treatment of seasonal allergic conjunctivitis.

Retinal cotton-wool-like spots: a marker for AIDS?

The prognostic value of ocular manifestations and its correlation with immune changes in HIV-infected subjects was studied longitudinally with an average follow-up of one year (3-22 months). The most common ocular manifestations were retinal cotton-wool-like spots, observed in 58.8% of AIDS patients and in 76.9% of those with ocular involvement. Two of three ARC cases with cotton-wool-like spots developed Pneumocystis carinii pneumonia a few weeks after ophthalmoscopic examination. A close correlation between ocular changes and decrease of CD4+ lymphocytes was observed. In our opinion, these ocular manifestations are as useful as opportunistic infections or AIDS-related neoplasias in the natural history of HIV infection.