Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.
Jessie Huang, Scott E Brodie, Jian Kong et al.
✦ AI-curated · Sources linked
Case in brief
A 12-year-old boy presented with reduced visual acuity and a parafoveal hyperautofluorescent ring on fundus autofluorescence, initially suspected to have CRX-related maculopathy. Electroretinography revealed preserved S-cone and rod function with reduced photopic responses. Genetic testing identified a novel hemizygous missense mutation in OPN1LW. This case illustrates atypical macular features in blue cone monochromacy, which can mimic other maculopathies.
What made this case unusual
The case highlights a novel OPN1LW missense mutation that leads to atypical, progressive macular changes, challenging the perception of blue cone monochromacy as a static condition.
Diagnostic / clinical pearl
Clinicians should consider blue cone monochromacy in cases with atypical macular features, especially when genetic testing reveals relevant mutations.
Why it matters
This case underscores the importance of advanced structural modeling in understanding the pathogenicity of genetic variants and their clinical manifestations.