Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation.

AIM: To describe the anticipation and anti-glaucoma drugs response of a Chinese family with juvenile-onset open angle glaucoma (JOAG) caused by the Pro370Leu myocilin (MYOC) mutation. METHODS: Fifteen members of a three-generation Chinese family with JOAG were recruited to this study. They all underwent ophthalmic common examinations. Patients suspected to have JOAG got an assessment of visual field and optical coherence tomography. Intraocular pressures (IOPs) of four patients were measured at 8, 10, 12, 14, 17 o'clock respectively after using anti-glaucoma drugs. Mutation screening of all MYOC gene coding exons of the participants was performed by using direct sequencing of PCR products. RESULTS: Clinical examinations and pedigree analysis revealed eight family members were suffered from JOAG. Apparent genetics anticipation phenomenon was observed in this family. Their clinical features included elevated IOP of 35-55mmHg, loss of visual field, thinning of retinal nerve fiber layer, and glaucomatous optic disc damage. Noticeably, their intraocular pressure levels could be controlled within normal range at 8 and 10 o'clock by anti-glaucoma drugs, but their IOPs would elevate >21mmHg after 12 o'clock. Seven patients received trabeculectomy produced thin-walled, pale, and saccate filtering blebs maintaining lower intraocular pressure efficiently. Mutation screening indentified a heterozygous C→T missense mutation in the MYOC gene at position 1 109 in exon 3, corresponding to a substitution of a highly conserved proline to leucine at codon 370 in the olfactomedin domain of MYOC. CONCLUSION: The clinical characteristics of JOAG in this family were 1) genetics anticipation; 2) high IOP; 3) temporay response to anti-glaucoma drugs; 4) filtering surgery produced thin-walled and saccate filtering blebs, helping maintain lower IOP.

[Clinical analysis of radiation optic neuropathy].

OBJECTIVE: To investigate the clinical features, risk factors, diagnostic methods, treatment regimens and outcomes of Chinese adult patients with radiation optic neuropathy (RON). METHODS: Retrospective case series. Clinical data with RON admitted to Zhongshan Ophthalmic Center from June 1999 to October 2010 were investigated retrospectively. RESULTS: Thirty-five cases (61 eyes) with RON were analyzed. All cases manifested as sudden binocular or monocular painless vision decrease. In 18 cases (51.4%), symptoms occurred within 36 months after the completion of radiation. In 43 eyes (70.5%), the visual acuity was less than 0.05 and/or with a visual field less than 10 degrees. In 52 eyes which the fundus could be examined, 41 eyes (78.8%) showed a clear boundary of optic papilla, including 6 eyes (14.6%) with normal appearance of optic papilla, 30 eyes (73.2%) with lighter color, 5 eyes (12.2%) with pale optic papilla, and 11 eyes (21.2%) with edematous or hemorrhagic and/or exudative optic papilla. Only 14 eyes showed abnormal visual field examination, mainly manifested as nerve bundle defect scotoma. Seven eyes (50%) manifested as arcuate scotoma, 3 eyes (21.4%) manifested as central scotoma and/or paracentral scotoma, 2 eyes accompanied by blind spot enlargement, 1 eye showed paracentral scotoma and 1 eye with quadrantanopia. Twenty-three eyes received fluorescein angiography (FFA), the major manifestations were low fluorescence at the optic nerve and areas of capillary nonperfusion. Pattern visual evoked potential revealed reduced amplitude and/or extended incubation period in 83.3% eyes. Treatment regimens including systemic corticosteroids, hyperbaric oxygen therapy, hyperbaric oxygen in combination with corticosteroid and laser photocoagulation, the visual acuity of 10 eyes (16.4%) had merely been improved. CONCLUSIONS: The prognosis of visual function in RON is poor resulting from devastating visual loss and/or visual field defect. The main damage of the fundus is retinal vascular occlusion and optic atrophy at different degrees. No adequately effective therapies are proved currently. The treatment aimed on the complication could only provide a short-term improvement of the vision.

[Clinical characteristics and etiological analysis of bullous retinal detachment].

OBJECTIVE: To observe the clinical manifestations of bullous retinal detachment and analyze the etiological factors. METHODS: A retrospective analysis of the clinical data was conducted in 22 patients with multifocal retinal pigment epitheliopathy (DRPE) and big bullous retinal detachment (BBRD), who were admitted between 2003 and 2008 in Zhongshan Ophthalmic Center with the diagnoses established by ocular fundus examination, fundus fluorescein angiography (FFA) and/or indocyanine green angiography (ICGA). RESULTS: The patients included 15 men (68%) and 7 women (32%), with a mean age at the initial visit of 42 years, ranging from 25 to 64 years. Four patients (18%) received previously systemic corticosteroid therapy, and 2 of them used corticosteroids before retina detachment, 1 suffered progression of retinal detachment after corticosteroid therapy, and the other developed retinal detachment in the healthy eye during the therapy. Multifocal bullous retinal detachment was diagnosed as diffuse pigment epitheliopathy (DRPE) in 9 cases. Most of the 13 cases of big bullous retinal detachment had poor vision after operation and laser therapy. CONCLUSION: Bullous retinal detachment occurs most frequently in mid-life and more often in men than women. Abnormal retinal pigment epithelium (RPE) and hyperpermeability of the choroid vessels are associated with its occurrence. Systemic corticosteroid therapy and mental stress may induce and aggravate this disease. Early medication and laser therapy are effective, and surgical intervention may save only part of the vision in advanced cases.