Fundus albipunctatus

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]


It is called albipunctatus fundus to a hereditary eye disease in which lack of vision in low light conditions (there is night blindness ) and a characteristic feature of the fundus , with numerous points of whitish located in the retina , the eye portion in which cells are sensitive to light, ie the cones and rods . This trastono should be distinguished from retinitis punctata albescens , which is a different and more serious eye disease, although some scholars believe that both diseases are related.

It is inherited in a pattern autosomal recessive , meaning that both parents must carry the gene abnormal for your child this disease. The mutation is located in the gene RDH5 that is located on the long arm of chromosome 12 and encodes the enzyme 11-cis-retinol dehydrogenase.

The symptoms are present since childhood and do not change in intensity over time, is poor night vision and dark adaptation is delayed, however, the visual acuity under good ambient light is almost normal and the visual field It is conserved. The condition is not severe or progressive, so not prevent the development of activities of the affected person can function in daily life relatively normal. There is no established treatment to cure the condition.