Unusual presentation of cone dysfunction consequent upon a homozygous FAM161A variant

Key Points

• To explore the atypical presentation of cone dysfunction related to homozygous FAM161A variants.
• Case descriptions detailing patient presentations and genetic analysis.
• Clinical evaluations to assess fundoscopic findings.
• Patients exhibited cone dysfunction despite normal-appearing fundi.
• FAM161A variants were confirmed, linking them to the observed dysfunction.