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Waardenburg syndrome (WS) is a rare genetical disorder, characterized with pigmentary abnormalities of the eyes, skin, hair, dystopia canthorum, and sensorineural deafness. In Majene, West Sulawesi, 12 members of a 4-generation family presented manifestations of WS. We examined the presence of mutations in 5 family members with type 1 WS and the other 5 normal phenotype family members to identify mutations of PAX3 and MITF genes. Ophthalmic examination and peripheral blood test were done. Conventional polymerase chain reaction and direct Sanger sequencing were then performed to detect the mutation. 26 mutations of PAX3 gene were only identified in patients with major and minor criteria, including 7 missense mutations (substitutions) and 2 insertions in exons 1, 2, and 6, as well as 17 intronic changes in intron 8. No mutations were detected in MITF gene.

BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aimed to identify the germline mutation in the RB1 gene in patients with RB and their parents from the eastern part of Indonesia. METHODS This observational analytic study recruited patients with RB and their parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar, Indonesia. The normal control subjects were children from the outpatient clinic at the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic examinations and peripheral blood tests were performed in RB patients, their parents, and control subjects. Genomic DNA was isolated from blood leukocytes and amplified using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations using the Sanger method. RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal subjects. Of the 184 variations detected in RB patients, 164 were also found in normal subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5 intronic mutations in introns 16 and 17 of the parents. None of the variations in exons were passed to their children. CONCLUSIONS This study found a novel missense mutation in exon 17 of the RB1 gene.

BACKGROUND Diabetic retinopathy causes vascular dilatation caused by hypoxia, whereas oxygen tension improvement leads to retinal vessels narrowing. Given that laser photocoagulation aims to increase the oxygen tension in the retina, we hypothesized that the narrowing of vessel caliber after the treatment could be possibly demonstrated. This study aimed to assess the changes in the caliber of retinal vessels before and after laser photocoagulation in diabetic retinopathy. METHODS This research was a prospective cohort study on the treatment of diabetic retinopathy by laser photocoagulation, and it was conducted at Universitas Hasanuddin Hospital, Makassar, Indonesia between November 2017–April 2018. Retinal vascular caliber changes were analyzed before and 6–8 weeks after photocoagulation in 30 diabetic eyes. Central retinal arteriolar equivalent (CRAE) and central retinal venular equivalent (CRVE) were measured using the vessel assessment and measurement platform software for images of the retina (VAMPIRE) manual annotation tool. RESULTS A significant decrease of CRVE was observed after laser photocoagulation (p<0.001), but CRAE was not reduced significantly (p = 0.067). No difference was recorded between CRVE and CRAE post-laser photocoagulation (p = 0.14), implying a reduction in vein caliber toward normal in the treated eyes. CONCLUSIONS Laser photocoagulation decreases the CRVE in diabetic retinopathy despite the absence of changes in the grade of diabetic retinopathy.

Habibah Setyawati Muhiddin, Muhammad Irfan Kamaruddin, Andi Muhammad Ichsan, Budu Department of Ophthalmology, Faculty of Medicine, Hasanuddin University, Makassar, South Sulawesi, IndonesiaCorrespondence: Habibah Setyawati Muhiddin Email muhiddinhabibah@yahoo.co.idPurpose: This study aimed to investigate the concentrations of vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) in vitreous and serum samples, analyze the ratio, and compare among proliferative diabetic retinopathy (PDR) subgroups.Patients and Methods: This study included 17 eyes of patients with PDR, identified as the PDR group which was divided into three subgroups (vitreous hemorrhage [VH], VH with fibrotic tissues, and tractional retinal detachment), and five control eyes (nucleus and intraocular lens drop). Vitreous and serum samples were obtained on the same day. The VEGF-A and PDGF-AB concentrations were calculated by enzyme-linked immunosorbent assay.Results: The VEGF-A and PDGF-AB concentrations in vitreous samples were significantly higher in the PDR group (630.72 ± 342.81 pg/mL) compared with those in the control group (153.58 ± 145.85 pg/mL); however, they were not detected in serum samples. The vitreous/serum ratio of the VEGF-A concentration in the PDR group (2.1 ± 1.8) was significantly higher compared with that in the control group (0.31 ± 0.33). The VEGF-A concentrations in vitreous samples were highest in the VH group and lowest in the VH with fibrotic tissue subgroup (mean difference 536.16 pg/mL). The vitreous VEGF-A/PDGF-AB concentration ratios were also significantly different among the PDR subgroups.Conclusion: High concentrations of VEGF and PDGF in vitreous samples of PDR eyes indicate its local related activity in PDR pathology. There is a possibility of PDGF involvement in the pathogenesis of PDR. The VEGF/PDGF concentration ratios possibly play a significant role in the formation of fibrotic tissue i