Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

PURPOSE: To assess the long-term efficacy of combined vitamin A and E treatment in preventing retinal degeneration in patients with abetalipoproteinaemia (ABL) or homozygous hypobetalipoproteinaemia (HBL). METHODS: Ten patients with ABL and 3 with homozygous HBL who were treated with oral supplements of vitamins A and E were studied. Systemic, ophthalmological and electroretinographic follow-up for a mean of 11.7 years (range 4-20 years) after onset of treatment was evaluated. RESULTS: Despite vitamin A and E treatment, 7 of 10 patients who began treatment prior to 2 years of age and all 3 patients who began treatment later in life manifested unusual fundoscopic pigmentary changes over time. At the end of follow-up, 11 of 13 patients had subnormal mixed cone-rod electroretinogram amplitudes. Seven of 10 patients for whom perimetry was available had mild to severe constriction of the visual fields. CONCLUSIONS: Combined oral vitamin A and E supplementation that is initiated prior to 2 years of age can markedly attenuate the severe retinal degeneration that is associated with untreated ABL or homozygous HBL. Yet, fundoscopic and functional retinal changes do occur despite early initiation of vitamin treatment. Therefore, the adequacy of the present treatment protocol for ABL and homozygous HBL should be re-evaluated.

The effect of a new tear substitute containing glycerol and hyaluronate on keratoconjunctivitis sicca.

The purpose of this study was to evaluate the efficacy of LO2A, a newly developed tear substitute containing glycerine and sodium hyaluronate, in the treatment of dry eyes. Twenty-five informed consent patients suffering from keratoconjunctivitis sicca were included. Patients were treated for one week with LO2A in one eye, and with their current tear substitute in the other eye. Rose bengal staining was evaluated on a scale of 0 to 3. Patient satisfaction was graded on a scale of 1 to 5. The average satisfaction score for LO2A was significantly higher compared to the control preparations at 1 week (p=0.0003) and at 2 weeks (p=0.0232). A highly significant reduction in rose bengal staining was demonstrated following 1 week of treatment with LO2A (p<0.0001). The LO2A treated eyes had significantly less staining than control eyes at 1 week (p=0.021) and at 2 weeks (p=0.023). An inverse correlation was found between patient grading and the rose bengal scoring (spearman rank coefficient = -0.49, p<0.001). LO2A showed a beneficiary effect on dry eye patient satisfaction and on rose bengal test, as compared to other tear substitute preparations currently used by these patients.

Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina.

Studies on the metabolism of selected amino acids were carried out in five patients with gyrate atrophy of the choroid and retina and four obligate heterozygotes. Hyperornithinemia, hyperornithinuria, and hypolysinemia were found in all patients. In one of the patients, the condition was diagnosed as early as 4 years of age. Ornithine loadings in the affected individuals did not induce the expected elevation of plasma glutamic acid and proline. Oral lysine tolerance tests in patients resulted in (1) enhancement of the hyperornithinuria and hyperlysinuria and (2) elevation of plasma lysine levels, which were below values obtained from normal controls. Supplementation of the regular diet with lysine for a period of 1 month increased plasma lysine but had no effect on plasma ornithine concentration.