Uncommon diseases: they are not static

Uncommon diseases are defined in clinical books with well defined clinical patterns, but everyday we can discover a new symptom or sign relevant for the quality of life of the person with the disease…

The Rubinstein-Taybi syndrome (RTs) occurs in one of 150.000 newborn. The major features of RTs are mental retardation,diminished growth, broad and sometimes medially deviated thumbs and big toes,and characteristic craniofacial abnormalities,consisting of microcephaly, downward slanted palpebral fissures, hypertelorism, long eyelashes,posteriorly rotated ears, beaked nose with the columella protruding well below the alae nasi, and pouting lower lip.

Data on ophthalmological findings are scarce but now is recognized that more than 78% of persons affected have ophtalmological and retinal problems.

The take home message is clear: don,t think static in uncommon diseases , be proactive in detecting problems.

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature 

Br J Ophthalmol 2000;84:1177–1184