RT Journal Article SR Electronic T1 Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP jmg-2022-108918 DO 10.1136/jmg-2022-108918 A1 Che-Yuan Kuo A1 Ming-Yi Chung A1 Shih-Jen Chen YR 2023 UL http://jmg.bmj.com/content/early/2023/01/23/jmg-2022-108918.abstract AB Background Hereditary maculopathy is a group of clinically and genetically heterogeneous disorders. With distinctive clinical features, subtypes of macular atrophy may correlate with their genetic defects.Methods Seven patients from six families with adolescent/adult-onset maculopathy were examined in this clinical case series. A detailed medical history and eye examination were performed. Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (RDH12) coding exons.Results Seven patients, including one male and six female patients, with pseudocoloboma-like maculopathy had biallelic missense RDH12 mutations. The most common mutant allele found in six of the seven patients was p.Ala269Gly. The average disease onset was at age 19.3 years, and visual acuity ranged from count fingers to 1.0. Most of the patients had mild myopic refraction. Common findings on fundus examination and spectral-domain optical coherence tomography include discrete margins of pseudocoloboma-like macular lesions with variable degrees of chorioretinal atrophy, excavation of retinal tissue and pigmentary changes mainly in the macular area. The electroretinograms were relatively normal to subnormal in all participants.Conclusions Progressive macular degeneration with a relatively normal peripheral retina and subsequent development of a pseudocoloboma-like appearance were the main clinical features in patients with compound heterozygous RDH12 missense mutations. Genetic testing may be crucial for early diagnosis and may play a key role in the development of future treatment strategies.All data relevant to the study are included in the article or uploaded as supplementary information.