Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.

PURPOSE: To screen for mutations in the coding region of the myocilin (MYOC) gene in a large Malay family with juvenile-onset open angle glaucoma (JOAG). METHODS: A total of 122 family members were thoroughly examined and screened for JOAG. Venipuncture was conducted. Genomic DNA was extracted from peripheral blood leukocytes. The presence of a mutation and a polymorphism was ascertained with PCR amplification followed by the direct sequencing technique. RESULTS: Thirty-two of the 122 screened family members were identified to have JOAG (11 new cases and 21 known cases). An autosomal dominant inheritance pattern with incomplete penetrance was observed. A C→A substitution at position 1440 in exon 3 that changes asparagine (AAC) to lysine (AAA) was identified in affected family members except two probands (III:5 and IV:6). Six probands were identified as having the Asn480Lys mutation but have not developed the disease yet. An intronic polymorphism IVS2 730 +35 G>A was also identified. There was a significant association between Asn480Lys (p<0.001) and IVS2 730+35G>A (p<0.001) in the affected and unaffected probands in this family. CONCLUSIONS: The Asn480Lys mutation and the IVS2 730+35 G>A polymorphism increased susceptibility to JOAG in this large Malay pedigree. Identifying the MYOC mutations and polymorphisms is important for providing presymptomatic molecular diagnosis.

Sequelae of neglected senile cataract.

Cataract is the most common cause of blindness in the world. An attack of phacolytic and phacomorphic glaucoma as a result of neglected cataract constitutes a medical emergency that must be addressed immediately. Ocular emergencies such as these is challenging for the surgeon with guarded or poor prognosis. We describe the presentation, management and prognosis of three cases of phacomorphic and phacolytic glaucoma. All three patients underwent aggressive management of intraocular pressure. Despite successful cataract operation with implantation of intraocular lens, there was only mild improvement of the vision. Optic nerve and pupil functions were permanently affected following the insult. Phacomorphic and phacolytic glaucoma present a very challenging problem to the surgeon with poor visual outcome. Public health education and awareness are important and health workers should encourage patients with cataract to seek early treatment for better prognosis.

Chopstick splinter: A rare cause of bilateral frozen orbits

OBJECTIVE: To report an unusual case of frozen orbit caused by an unsuspected intraorbital foreign body. METHOD: This is a case report. RESULTS: A 31-year old Chinese man presented with a 6-month history of painless progressive right caruncular growth with mucoid discharge. He also had bilateral progressive reduction in ocular movements. His best-corrected vision was 6/9 bilaterally. A conjunctival granuloma arising from the right caruncle and extending to the cornea and associate with ophthalmoplegia was also present. Orbital computed tomography showed a dense rod-like structure traversing the nasal area, extending from the superomedial wall of the right orbit to the apex of the left orbit with surrounding inflammatory reaction but sparing the optic nerve. The intraorbital foreign body, a 6 cm chopstick splinter, was successfully removed via right lateral rhinotomy. CONCLUSION: Intraorbital foreign bodies are not uncommonly seen and, generally, the diagnosis is straightforward. Nevertheless, diagnosis, could be missed if it is not suspected.