However, we cannot rule out the possibility that night vision problems, retinal degeneration, or balance areflexia might develop as these children age.Finally, in family HL16 with an X-linked HL inheritance pattern, we found a novel hemizygous missense variant p.(Tyr30Cys) of COL4A5 (Figure 1). This evidence concerns the gene COL4A5 and retinal degeneration.