Complex case with visual complaints, unsure if caused by primary retinal cone dysfunction or neurological issue.
mfERG abnormal, but ffERG is seemingly normal, pending final neuro opth report. Any thoughts on oligocone trichromacy or other cone dysfunction condition?
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Mildly abnormal multifocal electroretinogram with a mild decrease in amplitude consistent with mild central retinal cone dysfunction.
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Normal color vision
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Normal optic nerve, fundus
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Photophobia since early childhood
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No nystagmus
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Accomodative esotropia OS, lens corrected starting at age 2. Worsening after 2 decades, possible new intermittent exotropia OS.
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Binocular diplopia, near to mid range, restricted to narrow margins of central and peripheral vision; intermittent.
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Possibly unrelated undiagnosed neuromuscular condition, negative exome and mtDNA testing, high suspicion of channelopathy. Normal/elevated electron transport chain components but deficient citric synthase in skeletal muscle (implicated in diabetes, but patient is not diabetic)
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Suspect deleterious RPGR gene missense variant, clinically relevant to CRD if applicable.