Dr. Raktima Baksi, B17482
Phakomatosis syndromes are defined as a group of multisystem syndromes that have characteristic ophthalmic,neurological and cutaneous manifestations. They have familial incidence and congenital basis, varied ocular profile of presentation, with some of them having serious ocular morbidity.
A male patient aged 15years, with no vision since birth in both eyes. He had adenoma sebaceum in his face. He was of low intelligence. On slit lamp examination we found that he had ectropion uvea, microphthalmos, horizontal nystagmus and congenital cataract in his left eye and phthisis bulbi, congenital cataract with horizontal nystagmus in his right eye.
Key-words: Phakomatosis, adenoma sebaceum, ectropion uvea, microopthalmos ,nystagmus,, phthisis bulbi
group.