Eleven families in our study had pathogenic and likely pathogenic variants, 1one family had a variant in SCO2, a gene related to non-syndromic EoHM, three had variants in genes associated with other retinal dystrophies (TRPM1, CACNA1F and ARL6), six had variants in genes related to a syndromic disease that feature retinal dystrophy (COL2A1, COL11A1, OPA1 and NDP) and one had a variant in PAX6 that is not included in any of the groups mentioned but was reported to have a suggestive association with EoHM development. The gene discussed is COL2A1; the disease is inherited retinal dystrophy.