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TitelBlue cone monochromacy and pellucid marginal corneal degeneration : a case report
DoelTo report a clinical association of blue cone monochromacy and pellucid marginal corneal degeneration
MethodesA 44-year-old man presented since birth with a poor bilateral visual acuity, photophobia, impaired color vision and pendular nystagmus. The red reflex with direct ophthalmoscopy showed an irregular inferior reflection bilaterally. The rest of the examination was unremarkable. His clinical situation was rather stationary.
ResultatenThe full field photopic ERG was severely abnormal (single flash and flicker stimulation) while the scotopic ERG was normal. These ERG anomalies suggested a cone dysfunction.
The family tree was typical for X-linked recessive disease and genetic analysis found a Cys203Arg mutation on red green opsin genes. This genetic anomaly is the most frequent mutation in blue cone monochromacy.
To investigate the abnormal red reflexes, we performed a corneal topography which showed a butterfly wing shape. This confirmed the suspected pellucid marginal corneal degeneration.
ConclusieTo our knowledge, this is the first description of blue cone monochromacy associated with pellucid marginal degeneration.
Auteur 1
NaamLENFANT
InitialenT
InstituutErasme
StadBruxelles
Auteur 2
NaamCORDONNIER
InitialenM
InstituutErasme
StadBruxelles
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