Introduction:

blindness has important consequences on psychomotor development, especially if it occurs from birth. If an intellectual and auditory disability also appears, it will be more difficult to carry out certain processes of learning, displacement, communication and autonomy in activities of daily living. This is the case of Norrie's disease, a rare genetic disease linked to the X chromosome. In Cuba, in the Río Cauto municipality, Granma province, the largest family with this disease in the world, known since 1991, with 380 members was studied. The eyes turn out to be the most affected organ, with evolution almost always to blindness.

Case presentation:

there are three cases with ocular involvement: band keratopathy, retinal detachment, ocular hypotonia, two of them blind from birth that evolved into the bulbi pptisis.

Discussion:

the general and ophthalmological clinical findings of the cases presented coincide with those described in Norrie's disease by different authors. The three cases were rehabilitated psychologically, two were totally rehabilitated with orientation, mobility and hearing aids and one is kept in rehabilitation; hand-to-hand touch sign language was used in all three cases.

Conclusions:

reeducation in activities of daily living, adapted to people with these disabilities, allows them to acquire greater individual, social and professional autonomy, raise their quality of life and actively insert them into society.

        · resumen en Español | Portugués     · texto en Español     · Español ( pdf )