AHI1 and Retinal dystrophy: A specific association of retinal dystrophy with macular staphyloma has also been reported in few patients with AHI1‐ and INPP5E‐related JS (Toma et al., 2018), while the “morning glory disc anomaly” has been observed in an Austrian family with biallelic TMEM237 pathogenic variants (Huang et al., 2011).