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Inherited retinal dystrophy (IRD) is a group of phenotypes caused by mutations in visual pathways-related genes, mostly occurring at photoreceptors. This heterogeneous group includes retinitis pigmentosa (RP) recognised by bone spicule at the peripheral retina and the other is Stargardt with macular pisiform flecks. In this study, a 20- year-old male patient with RP symptoms was accompanied by a yellowish pisiform flex in the macula. However, his brother, mother and aunty have typical Stargardt disease. This study involved four persons, two males (cases 1 and 2), their mother (case 3) and aunt (case 4). Initially, cases 1 and 2 came to the clinic, case 1 was diagnosed as RP and macular dystrophy, and case 2 was diagnosed as Stargardt disease. On the follow-up, cases 1 and 2 as well as their father, mother and other family members underwent comprehensive eye examination, including fundus, Snellen, OCT, OCT-A and HFA, and found an uncommon macular abnormality besides typical RP appearance in case 1. The father is healthy while the mother and one of his aunties were diagnosed as Stargardt. A genetics analysis was conducted in case 1, finding various mutations associated with IRD mutation at the cone protein-encoded gene that concentrated at the central and rod protein-encoded gene concentrated at the peripheral retina. Whether the combination of multiple or the same mutations is responsible for this RP phenotype needs further analysis and validation. Cases 2 and 3 genetic analysis showed similar mutation results but with a healthy peripheral retina and only represented Stargardt. Case 1 is considered as RP with macular dystrophy, while cases 2, 3 and 4 are confirmed as Stargardt.

Introduction: Inherited retinal dystrophy (IRD) is a group of untreated genetic ocular diseases that mostly affect young people. The number of patients with IRD worldwide, including in developing countries, is growing each year. This literature review aimed to investigate the current utilised genetic screening of IRD worldwide and to propose the most feasible genetics test and diagnostic method for IRD in developing countries, especially Indonesia., Materials and Methods: A literature search was performed in PubMed and Google Scholar databases. Papers conducting wide genome sequencing, including panel sequencing (panel-seq), microarray, whole exome sequencing (WES), whole genome sequencing (WGS) and Sanger sequencing on patients with IRD, were included. Papers were sorted into several groups to visualise the sequencing technology's detection rate. Detection rate comparison analysis was done using the meta-regress protocol in the R program. Whereas the number of novel mutations in each testing tool each year was pooled and compared in the graph., Results: After conducting the literature study, 37 papers were sorted from 451 results. Most studies conducted a panel-seq with 16 records followed by WES with seven records. The detection rate of the WES meta-analysis was 0.66, which was slightly better than the panel-seq with 0.55. The number of novel mutation discoveries fluctuated each year with panel-seq as the most prominent finder. Cost factors and the limitation of sequencing devices make panel-seq a more appropriate tool in Indonesia., Conclusion: The most effective selection for evaluated genetic testing was WES. Therefore, panel-seq is more suitable for first-tier genetic testing in Indonesia.