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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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: To compare the reliability and accuracy of intraocular pressure (IOP) measured while wearing soft contact lenses (SCLs) using a non-contact tonometer (NCT), Goldmann applanation tonometer (GAT), iCare rebound tonometer (RBT) and the Tono-Pen XL. Methods: Twenty-six healthy subjects were examined. The IOP was measured using NCT, GAT, RBT, and the Tono-Pen XL, while the subjects wore SCLs -5.00 D, -0.50 D and +5.00 D. Bland-Altman plots and a regression analysis were used to compare the IOPs obtained with those instruments and the IOPs of the naked eyes measured using GAT (the standard IOPs in this study). Results: The IOPs obtained by the Tono-Pen XL while the subjects were wearing -5.00 D, -0.50 D, and +5.00 D SCLs were significantly higher than those of the naked eyes obtained using GAT. RBT showed that the IOPs were similar to the GAT standard IOPs under all conditions. The IOPs measured with NCT and GAT while the subjects were wearing -5.00 D and -0.50 D SCLs were similar to the GAT standard IOPs. The IOPs obtained with RBT and NCT while the subjects were wearing -5.00 D and -0.50 D SCLs exhibited a good correlation with the standard IOPs. Conclusion: The NCT and RBT are best when measuring IOP through hydrogel SCLs. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate some clinically important features of benzalkonium chloride (BAK) toxicity by comparing tafluprost with 0.001% BAK and travoprost preserved with SofZia applied to the ocular surface of the eyes with glaucoma. Methods: This was a prospective, randomized, observer unmasked, multicenter crossover trial. A total of 195 patients were randomized and 174 patients completed the study at 19 clinics between November 2011 and August 2012. Topical BAK-preserved tafluprost or SofZia-preserved travoprost was newly administered or continued. Superficial punctate keratopathy (SPK), tear break-up time (BUT), the conjunctival hyperemia score, and intraocular pressure (IOP) were compared at the baseline visit, 4, and 12 weeks after the start of therapy. The eye drops were switched to another eye drop after 12 weeks of observation. Results: The total SPK and conjunctival hyperemia scores were significantly lower in the tafluprost compared with those in the travoprost phase (both P=0.038). There were no significant differences in the SPK scores of the superior area ( P=0.679), central area ( P=0.089), inferior area ( P=0.090), and tear BUT ( P=0.271). The IOP-lowering effects were similar ( P=0.155). Conclusions: SPK, hyperemia score, and tear BUT while using tafluprost with 0.001% BAK were not inferior compared with those caused by travoprost with SofZia. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the expression in the mouse retina and the function in a retinal cell of cullin5 that is known as a protein that is associated with ubiquitilation. Methods: The retinal sites of expressing cullin5 were determined by immunohistochemistry with a specific antibody for cullin5. Retinal cells were transfected with HA-tagged cullin5 using an adenovirus system, and retinal cells were exposed to L-glutamate with or without an over-expression of cullin5. Results: Cullin5 was expressed in the retina of C57BL/6N mice and the retinal ganglion cell layer (RGL) of retina was strongly immunostained. Further, cullin5 was localized in the retinal ganglion cell (RGC). An over-expression of cullin5 reduced the percentage of retinal cell deaths induced by L-glutamate. Conclusions: The expression of cullin5 on retinal cells and reduction in the percentage of dead retinal cells induced by L-glutamate suggest that cullin5 has neuroprotective properties in retinal cells. [ABSTRACT FROM AUTHOR]