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.
The long-term antibody response to the novel SARS-CoV-2 in infected patients and their residential neighborhood remains unknown in Indonesia. This information will provide insights into the antibody kinetics over a relatively long period as well as transmission risk factors in the community. We aim to prospectively observe and determine the kinetics of the anti-SARS-CoV-2 antibody for 2 years after infection in relation to disease severity and to determine the risk and protective factors of SARS CoV-2 infections in the community. A cohort of RT-PCR confirmed SARS-CoV-2 patients (case) will be prospectively followed for 2 years and will be compared to a control population. The control group comprises SARS-CoV-2 non-infected people who live within a one-kilometer radius from the corresponding case (location matching). This study will recruit at least 165 patients and 495 controls. Demographics, community variables, behavioral characteristics, and relevant clinical data will be collected. Serum samples taken at various time points will be tested for IgM anti-Spike protein of SARS-CoV-2 and IgG anti-Spike RBD of SARS-CoV-2 by using Chemiluminescent Microparticle Immunoassay (CMIA) method. The Kaplan-Meier method will be used to calculate cumulative seroconversion rates, and their association with disease severity will be estimated by logistic regression. The risk and protective factors associated with the SARS-CoV-2 infection will be determined using conditional (matched) logistic regression and presented as an odds ratio and 95% confidence interval.