ABSTRACT
PURPOSE: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. DESIGN: Multi-national, multi-center collaborative network. METHODS: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. RESULTS: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. CONCLUSIONS: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.
Subject(s)
Developing Countries , Humans , Philippines , China , Thailand , MalaysiaABSTRACT
A 32-year-old male presented with painless proptosis and diminution of vision in left eye. Imaging shows multiple well-defined masses, suggestive of cavernous haemangioma, in orbit and cranium with adjoining bones being thickened with cystic spaces. Histopathology proved the diagnosis. Cavernous haemangioma usually presents as a solitary intraconal and sometimes extraconal mass with vision usually preserved unless it extends to the apical portion. Here we report a rare case of multiple simultaneous locations of cavernous haemangiomas in orbit and cranium with significant diminution of vision.
Subject(s)
Exophthalmos , Hemangioma, Cavernous , Orbital Neoplasms , Adult , Exophthalmos/etiology , Hemangioma, Cavernous/diagnostic imaging , Hemangioma, Cavernous/surgery , Humans , Male , Orbital Neoplasms/diagnosis , Skull/diagnostic imagingABSTRACT
INTRODUCTION: Inverse Bell's phenomenon is a rare ophthalmic phenomenon where downward instead of upward movement of the eyeball occurs during eyelid closure. It may be associated with peripheral facial nerve palsy, conjunctival scarring, and ptosis surgery. CASE REPORT: A 9-year-old male patient with right upper-lid congenital ptosis developed inverse Bell's phenomenon 2 days after frontalis sling-suspension ptosis surgery. At the 3-week postoperative visit, there had been spontaneous resolution of the inversion of Bell's phenomenon without any corneal complication. CONCLUSION: Inverse Bell's phenomenon, more often reported to be associated with levator-resection surgery, may develop following frontalis sling-suspension ptosis surgery. Close monitoring and frequent instillation of topical lubricants are necessary to prevent exposure keratopathy until the resolution of inverse Bell's phenomenon in patients with lagophthalmos after ptosis surgery.
