Background: Endophthalmitis is a sight-threatening disease characterized by marked progressive inflammation of the vitreous and/or aqueous humors. Limited information is currently available regarding endophthalmitis in the Philippines. This study aimed to provide long-term summary data on endophthalmitis cases seen at the largest tertiary referral hospital in the Philippines.

Introduction: Keratoconus usually presents during puberty and is considered rare in young children. Methods: Case report with clinical findings and computerized corneal tomography. Results: We report the case of an 8-year-old girl with early bilateral keratoconus who presented with allergic conjunctivitis and persistent eye rubbing. Although our patient did not exhibit steep keratometry, early cones and inferotemporal thinnest corneal thicknesses were detected in both eyes using Scheimpflug imaging (Oculus GmbH Pentacam, Wetzlar, Germany). Belin/Ambró sio total D values were 1.85 on the right and 2.11 on the left. Improvement in best-corrected visual acuity was noted after treatment of allergic eye disease, and corneal tomographic findings remained stable 4 months after initial consult. Conclusion: This is a case of early diagnosed keratoconus in a young patient. Diagnosis of this condition in young children is challenging, as these patients are less likely to report visual complaints, and clinical examination is usually unremarkable. Keratoconus screening should be considered in children with atopy and eye rubbing behavior regardless of age, even in those with no other associated pathology and with negative family history.

Background: Advances in genomics continue to enable the discovery of gene variants which cause various inherited ophthalmic disorders. Several case reports have shown an association between keratoconus and retinal disease but whether there is a genetic basis for this is still not known.Methods: Clinical case study with Pentacam imaging, fundus autofluorescence (FAF), macular optical coherence tomography (OCT), electrophysiology studies, and genetic analysis. Results:We report three brothers, two of whom have keratoconus and one who was found to have bilateral cone-rod dystrophy. This was supported by color vision and electrophysiology testing, fundus autofluorescence, and macular OCT findings. Genomic data analysis revealed three rare gene variants (MAP3K19, ADGRV1, and PIK3CG) common to the brother with cone-rod dystrophy and one brother with keratoconus. There was also a very significant variant in the CHST6 gene in the latter. Whole exome sequencing data revealed a rare missense variant for IMPG2 gene in both brothers. Conclusion:Among the four genes with shared mutations in two of the brothers, IMPG2 has been linked to retinal disease while MAP3K19 and PIK3CG carry high risk scores for keratoconus pathogenesis. A highly damaging CHST6 variant detected in the brother with keratoconus is known to cause macular corneal dystrophy and corneal thinning. This study offers the first familial genetic analysis for keratoconus and cone-rod dystrophy. More studies with genomic investigations are needed in order to further elucidate the possible relationship between these two diseases.

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