blindness: Retinitis pigmentosa
Photo by Professor Chua
This 6 year-old boy has
had poor vision since birth and exhibits eye poking (oculo-digital
phenomenon). EUA revealed the presence of pigmentary changes in the
peripheral retina with attenuated vessels. Refraction showed hypermetropia
in both eyes measuring +4.00. The patient also has 3 siblings who are all
similarly affected. Although oculo-digital phenomenon and hypermetropia are
common in Leber's congenital amaurosis, the involvement of all siblings are
uncommon as the condition is autosomal recessive. On the other hand, the
presence of pigmentary changes suggests this may be a severe form of
autosomal dominant retinitis pigmentosa.
Poor vision and sudden orbit due to
chronic eye rubbing.