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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

Fig. 1

Ophthalmological findings in BCM patient III:2 a Full-field ERG recordings according to ISCEV Standards of a normal subject b ERG of the index patient (III:2) at last clinical examination (24 years old) showing mild reduction under dark-adapted (DA) scotopic conditions and undetectable responses under light-adapted (LA) photopic responses in both eyes. Strength of the light stimulus is given in photopic cd*s/m2, if not stated otherwise. Grey sections indicate scotopic recording conditions. Red colour represents right eye and blue the left eye. Green rectangles indicate 5–95% confidence intervals for amplitudes and implicit times of a normal population. c Right and left eye fundus image of the patient showing tilted optic disc. d Right and left eye OCT shows normal retinal architecture in the BCM patient with thinned photoreceptor layers. e Farnsworth Panel D-15 saturated shows confusion errors along the protan-deutan axes for both eyes

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