Expanding the spectrum of retinal dystrophy and leukodystrophy: Novel acyl-CoA binding domain-5 mutation with sensorineural deafness and hypergonadotropic hypogonadism

Retinal dystrophy with leukodystrophy (RDLKD) is a recently described peroxisomal enzyme deficiency disorder with mutation in the acylCoA binding domain-5 (ACBD5) protein gene. Apart from the typical manifestations of retinal degeneration, spastic paraparesis, ataxia, and leukodystrophy, the clinical spectrum of RDLKD is expanding. Here, we report a novel ACBD5 mutation with childhood onset progressive spastic paraparesis, retinal degeneration, intellectual decline, dysmorphic facies, and imaging features of leukodystrophy. She had additional features of ovarian failure and sensorineural deafness. Fundus changes of macular cone-rod dystrophy were characteristic as in previous reported cases. Magnetic resonance imaging brain imaging showed supratentorial and infratentorial atrophy with leukodystrophy. Clinical exome sequencing revealed a novel mutational deletion at exon 10–12 of ACBD5 gene on chromosome 10, with homozygous autosomal recessive inheritance. This is the first case of ACBD5-related RDLKD from South Asia with hypergonadotropic hypogonadism and previously unreported feature of sensorineural deafness.