Leucocoria "white eye reflex" , seen in conditions such as congenital cataracts, tumours like retinoblastoma.
[FONT=&]Related Self Assessment Question Pictured below is a 16-month-old male infant. The family history reveals that his father had an eye and a leg removed. Which of the following is the most likely diagnosis?[/FONT] [FONT=&]A. Coloboma of the choroid[/FONT] [FONT=&]B. Retinal detachment[/FONT] [FONT=&]C. Nematode endophthalmitis[/FONT] [FONT=&]D. Retinoblastoma[/FONT] [FONT=&]E. Persistent hyperplastic primary vitreous[/FONT] [FONT=&]EXPLANATION: [/FONT] [FONT=&]The child pictured is an asymmetric "red" reflex (one eye is lighter than the other). Although all the listed options can produce the symptoms described, the family history supports the diagnosis of retinoblastoma, the most common intraocular tumor in children. Early detection can result in a survival rate of over 90%. The pattern of inheritance of retinoblastoma is complicated: the hereditary form of the disease can be transmitted by means of autosomal dominant inheritance from an affected parent, from an unaffected parent carrying the gene, or from a new germinal mutation. Familial occurrences are usually bilateral. A second primary tumor develops in 15% to 90% of survivors of bilateral retinoblastoma, the most common of which is osteosarcoma, increasing in incidence with time. Retinoblastoma is associated with a mutation or deletion of the long arm of chromosome 13. In addition to specialized ophthalmologic care, management of retinoblastoma includes molecular genetic investigation of the family to identify those who have inherited the tumor-predisposing retinoblastoma gene. [/FONT] [FONT=&]The answer is D. [/FONT]
