Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder that can lead to acute encephalopathy, liver disease, cardiomyopathy, rhabdomyolysis, and long-term complications involving the eye and peripheral nerves. LCHADD is a peroxisome biogenesis disorder (PBD). Except for the series presented by Tyni and colleagues (Ophthalmology 1998;105:810-824), which described visually insignificant lens opacities in association with LCHADD, previous ophthalmic papers have only reported retinal complications. We report on one case with progressive asymmetrical cataract. The more mildly affected eye had a similar morphology to that previously reported and the more severely affected eye had an unusual morphology we believe is unique to LCHADD. We discuss the range of ophthalmic presentations in our cases and in the literature. The variability of the severity of ocular complications, even between eyes in one individual, makes it difficult to test the effectiveness of therapeutic options upon the ophthalmic complications.

Cytomegalovirus retinitis is common in adults with AIDS but has been reported infrequently in children with perinatally acquired HIV infection. The cases are presented of two infants with vertically acquired HIV infection who developed disseminated cytomegalovirus infection and retinitis, and who posed difficult management issues. (Arch Dis Child 1995; 72: 54-55 A 4 month old breast fed infant was admitted in respiratory failure after a one week history of cough, tachypnoea, and poor feeding. He required ventilation and a bronchoalveolar lavage demonstrated Pneumocystis carinii pneumonia. HIV-1 antibodies were detected on serological testing; HIV polymerase chain reaction was positive for gag and pol primers, and p24 antigen was detected at a concentration of 95 pg/ml. CD4 count was 0-073X 109/1 (4% of a total lymphocyte count of 1 83X 109/1). He made a good initial recovery after treatment with high dose co-trimoxazole (120 mg/kg/day), methylprednisolone, fluid restriction, and frusemide. Despite being extubated after three days, he still required high concentrations of oxygen via head box and deteriorated when attempts were made to decrease the steroid treatment. Two weeks after admission chest radiography showed persistent bilateral interstitial pneumonitis. Abnormal liver function test results prompted cytomegalovirus screening and early antigen was detected in urine and nasopharyngeal secretions, though not in the buffy coat. Ophthalmological review revealed two white retinal exudates present in the left eye. The larger one was of several disc diameters in size and the smaller was a perivascular lesion (figure).