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This abstract is assigned to session OB Poster session > in O'Bistro

Title

Blue cone monochromacy and pellucid marginal corneal degeneration : a case report

Purpose	To report a clinical association of blue cone monochromacy and pellucid marginal corneal degeneration
Methods	A 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.
Results	The 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.
Conclusion	To our knowledge, this is the first description of blue cone monochromacy associated with pellucid marginal degeneration.

Author 1

Last name	LENFANT
Initials	T
Department	Erasme
City	Bruxelles

Author 2

Last name	CORDONNIER
Initials	M
Department	Erasme
City	Bruxelles