Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations

RDH12 is an enzyme for recycling visual pigment in the photoreceptor cells. Mutations in RDH12 are known for causing severe childhood-onset visual impairment or diffuse retinal degeneration. This article described a new phenotype, an autosomal recessive pseudocoloboma-like maculopathy, resulting from RDH12 mutations. Although RDH12 is primarily expressed in the photoreceptor cells, relatively normal to subnormal photoreceptor functions are observed in these patients. Funduscopically, the lesions often appear similar to a coloboma and have different degrees of chorioretinal atrophy and pigmentation in the macula. Genetic testing may facilitate early diagnosis and genetic counseling. (By Dr. Ming-yi Chung, https://jmg.bmj.com/content/early/2023/01/23/jmg-2022-108918 )

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