Familial unilateral Brown syndrome.

We present a two-generation family with Brown syndrome. The proband was a six and a half-year-old female who presented with a history of failure of dextro-elevation of her left eye. A full ophthalmic evaluation was consistent with a left Brown syndrome. Family history revealed that her mother was operated on as a child for left Brown syndrome and examination of her four and a half-year-old sibling showed similar affection in the left eye. Autosomal dominant inheritance has been postulated in this condition. To our knowledge this is the first report of three members of a two-generation family with left-sided Brown syndrome. Genetic counseling of Brown syndrome cases is advised; nevertheless, identification of the responsible gene should shed more light on its genetics.

Retinoblastoma: clinical features and current concepts in management.

It is important that retinoblastoma is considered as a possible diagnosis in all children presenting with a white reflex in the pupil. A constant unilateral strabismus with poor visual acuity is the next common method of presentation. Heritable tumours are more likely to be bilateral and occur earlier. Unilateral retinoblastomas present on an average at 24 months of age while bilateral disease at 12 months. The management of retinoblastoma had been revolutionised over the last decade. The introduction of gene testing in relatives with a known germ-line mutation has simplified follow-up. The early detection of small and medium sized tumours has lent itself to focal treatment with laser therapy. Chemoreduction followed by focal laser or cryotherapy can salvage eyes with large tumours. Thermotherapy reduces the amount of scarring associated with other modalities of focal treatment. Radiation in the form of brachytherapy or teletherapy is largely limited to tumours resistant to other forms of treatment due to the risk of local complications and the higher risk of secondary cancers in the field of radiation.