Macular corneal dystrophy (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into two subtypes, type I and type II, defined by the respective absence and presence of sulphated keratan sulphate in the patient serum, although both types have clinically indistinguishable phenotypes. The gene responsible for MCD type I has been mapped to chromosome 16q22, and that responsible for MCD type II may involve the same locus. Here we identify a new carbohydrate sulphotransferase gene (CHST6), encoding an enzyme designated corneal N-acetylglucosamine-6-sulphotransferase (C-GlcNAc6ST), within the critical region of MCD type I. In MCD type I, we identified several mutations that may lead to inactivation of C-GlcNAc6ST within the coding region of CHST6. In MCD type II, we found large deletions and/or replacements caused by homologous recombination in the upstream region of CHST6. In situ hybridization analysis did not detect CHST6 transcripts in corneal epithelium in an MCD type II patient, suggesting that the mutations found in type II lead to loss of cornea-specific expression of CHST6.

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AimsThe purpose of this study is to elucidate the clinical manifestations and the current treatment status of cytomegalovirus (CMV) endotheliitis via a large case series obtained from a national survey conducted in Japan.MethodsThe Japan Corneal Endotheliitis Study Group proposed diagnostic criteria for CMV endotheliitis based on a viral examination by PCR of aqueous humour, in combination with clinical manifestations. A national survey was then retrospectively conducted among 1160 members of the Japan Cornea Society. The study reviewed the patient profiles, clinical manifestations, and treatment modalities of individuals who met the diagnostic criteria for CMV endotheliitis.ResultsThe study included 109 eyes of 106 patients. Mean patient age was 66.9±10.9 years (85 males (80.2%), 21 females (19.8%)). Patients were commonly diagnosed with anterior uveitis and ocular hypertension prior to confirmation of CMV endotheliitis. Coin-shaped lesions were observed in 70.6%, and linear keratic precipitates in 8.3% of the patients, respectively. 95% of cases were treated with anti-CMV drugs.ConclusionsCMV endotheliitis is most common in middle-aged and elderly men. CMV endotheliitis should be suspected when patients present with corneal endotheliitis involving coin-shaped lesions accompanied by anterior uveitis and ocular hypertension.

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Three-day administration of LVFX ophthalmic solution and use of an eyewash with diluted iodine compounds is effective for preoperative disinfection. However, complete elimination of bacteria from the conjunctival sac is difficult.