DHX38 and coloboma of macula: DHX38 had been first associated to IRD (OMIM:618220) with homozygous missense variant c.995G>A:p.(Gly332Asp) found in four affected sibs from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma [80] and, more recently, has been confirmed to cause early-onset retinitis pigmentosa in two consanguineous Pakistani families with early-onset retinitis pigmentosa [81] with same homozygous missense variant c.971G>A:p.(Arg324Gln) also seen in patient P43 (Leber congenital amaurosis; rank 7) from the IRD dataset in this analysis.