EPOS

European Paediatric Ophthalmological Society

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HYPOMELANOSIS OF ITO. CASE REPORT.

Duarte, L., Hong, J., Quadrado, M.J., Murta, J.N., Silva, E.

Dept. of Pediatric Ophthalmology, University of Coimbra, Portugal.

We present a 10 year-old white female, born to healthy nonconsanguineous parents, with characteristic triangular facies, with low-set ears, broad nose, slight blepharophimosis, significant thoracic scoliosis and severe developmental delay. At birth, or shortly thereafter, depigmented skin patches on her limbs and forehead were noticed associated with right non-colobomatous microphthalmia with congenital cataract, mitral insufficiency and right hand polydactyly. She later developed seizures.
Cataract surgery was performed on her right eye, that subsequently became pthisical and after age 5, she developed a partial opacification of her left lens (nuclear and cortical) that does not affect the visual axis and that followed by observation yearly.
Several orthopedic and plastic surgeries have been performed to correct her polydactyly and scoliosis.