Federico Cremona, Maria Pilar Jerabek
We report the case of a 4-year-old boy diagnosed with keratitis-ichthyosis-deafness (KID) syndrome with long-term follow-up, including multiple surgical and nonsurgical treatments. Genetic testing revealed a missense GJB2 mutation (p.Asp50Asn). His ocular condition deteriorated to the point that, at 37 years of age, he required bilateral keratoprosthesis (KPro) implantation, resulting in best-corrected visual acuity of 20/25 in the right eye and 20/40 in the left eye. Our findings suggest that more advanced cases of KID syndrome may benefit from treatment options that rely less on ocular surface stability, such as KPro implantation, whereas therapies that treat the ocular surface may be preferred in early-stage disease.