Congenital blindness: Retinitis pigmentosa photos

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Congenital blindness: Retinitis pigmentosa photos

Congenital blindness: Retinitis pigmentosa

versus Leber's congenital amaurosis

Photo by Professor Chua Chung Nen

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.


Oculo-digital phenomenon.

[DJnaW]

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[freemedicalvideo]

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