Unilateral ptosis correction with mersilene mesh frontalis sling in infants: thirteen-year follow-up report.

PURPOSE: To assess surgical, visual, refractive, and aesthetic outcomes 13 years after mersilene mesh frontalis sling (MMFS) operation for severe unilateral congenital ptosis performed in 10 infants before 1 year of age. METHODS: Longitudinal follow-up of an interventional case series by structured ocular examinations, external photographs, and questionnaire-based interviews. RESULTS: Mean age at surgery was 6.9+/-2.7 months. After a mean follow-up of 13.0+/-0.6 years, one patient (10%) had recurrent ptosis with the upper lid 2 mm below the superior limbus at 3 months postoperatively. Best-corrected visual acuities were within two Snellen lines between the two eyes in all patients. Astigmatic errors were 1.20+/-1.00 D and 1.10+/-1.70 D between operated and unoperated eyes. Four patients had 2 mm lid lag on down-gaze and one of them had 2 mm lagophthalmos. Mean satisfaction scores (scale of 1 to 100) for lid position, cosmesis, function, and to the procedure were 83.3+/-11.8, 77.0+/-22.9, 89.4+/-5.5, and 86.8+/-6.3, respectively. No case of overcorrection, sling extrusion, stitch granuloma, or exposure keratopathy was noted. CONCLUSIONS: In view of the low recurrence rate (10%) and absence of serious complication or need for revision after 13 years, the use of MMFS seems effective and feasible in infants less than 1 year old. Achieving compatible long-term stability, satisfactory aesthetic, and visual outcomes, MMFS may offer an alternative to delaying operations for autogenous fascia lata harvesting in infants requiring early ptosis correction.

A novel missense RP1 mutation in retinitis pigmentosa.

AIMS: More than 20 mutations associated with retinitis pigmentosa (RP) have been identified in the retinitis pigmentosa 1 (RP1) gene, all of them leading to the production of a truncated protein without 50-70% of the C-terminal of the RP1 protein. RP1 was recently found to be a microtubule-associated protein (MAP) and responsible for the organisation of the photoreceptor outer segment. The N-terminal doublecortin (DCX) domain of RP1 is essential for its function. But how the C-terminal of the protein affects its function is still not known. This study aims to get a better understanding of the RP1 gene by mutation screening on RP patients. METHODS: Peripheral blood was taken from 72 RP patients. Together with 101 RP patients and 190 control subjects previously reported, mutation screening was performed by polymerase chain reaction (PCR) and direct sequencing. Statistical analysis was performed using SPSS. RESULTS: Two novel missense sequence changes, D984G and C727W, and one novel variant, 6492T>G, at the 3' untranslated region were found. They were not found in 190 control subjects. D984G causes RP. It creates two possible N-myristoylation sites according to PROSITE. C727W does not segregate with RP in the family. It abolishes an N-myristoylation site. R872H, a previously reported polymorphism, was predominantly present in control subjects (P=0.001). CONCLUSIONS: Our results suggest that disruption of the C-terminal of RP1 may be associated with the development of RP, and the possible involvement of the RP1 polypeptide downstream of its DCX domain in normal RP1 function.

Precautions in ophthalmic practice in a hospital with a major acute SARS outbreak: an experience from Hong Kong.

Many new infectious diseases in humans have been derived from animal sources in the past 20 years. Some are highly contagious and fatal. Vaccination may not be available and antiviral drugs are not effective enough. Infectious control is important in clinical medicine and in Ophthalmology. Severe acute respiratory syndrome (SARS), as an example, is a highly contagious respiratory disease that has recently been reported in Asia, North America, and Europe. Within a matter of weeks, the outbreak has evolved to become a global health threat and more than 30 countries have been afflicted with a novel Coronavirus strain (SARS-CoV) that is the aetiologic agent of SARS. The primary route of transmission of SARS appears involving close person-to-person contact through droplets. Ophthalmologists may be particularly susceptible to the infection as routine ophthalmic examinations like direct ophthalmoscopy and slit-lamp examination are usually performed in a setting that has close doctor-patient contact. Being the Ophthalmology Department of the only hospital in the world that has just gone through the largest outbreak of SARS, we would like to share our strategy, measures, and experiences of preventing contracting or spreading of SARS infection as an infection control model. SARS is one of the many viruses against which personnel will need protecting in an ophthalmic setting. The experiences attained and the measures established might also apply to other infectious conditions spreading by droplets such as the avian influenza with H5N1.

Genetic markers for retinitis pigmentosa.

OBJECTIVE: To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis. DATA SOURCES AND EXTRACTION: Literature search of MEDLINE from 1988 to 2005 using the following key words: 'retinitis pigmentosa', 'rhodopsin', 'RP1', 'RPGR', and 'genetic counseling'. References of two genes--RHO and RP1--causing retinitis pigmentosa in the Chinese population were reviewed. STUDY SELECTION: Literature and data related to genetic markers for retinitis pigmentosa. DATA SYNTHESIS: The genetics of retinitis pigmentosa is complex. It can be sporadic or familial, with heterogeneous transmission modes. Retinitis pigmentosa is associated with nearly 40 chromosomal loci, where 32 candidate genes have been identified. A large number of mutations are known to cause retinitis pigmentosa. But no single mutation alone accounts for more than 10% of unrelated retinitis pigmentosa patients. Genetic tests for retinitis pigmentosa require screening for a consort of mutations in a large number of genes. High throughput screening technology such as denaturing high performance liquid chromatography and automated DNA sequencing should make such tests feasible. CONCLUSIONS: Rapid developments in the understanding of the genetics of retinitis pigmentosa have helped to establish genetic tests of clinical value. The complex mode of inheritance nonetheless makes genetic counselling difficult, even in the presence of positive genetic screening results.

Gene mutations in retinitis pigmentosa and their clinical implications.

Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases affecting about 1 in 3500 people worldwide. So far, there is no prevention or cure, with permanent visual loss or even blindness the ultimate consequence usually after midlife. The genetics of RP are complex. It can be sporadic, autosomal dominant, autosomal recessive, or X-linked. Thirty-two genes are known to be associated with RP, sometimes the same gene gets involved in different inheritance traits. Some RP cases have a digenic cause. About 60% RP cases still have no known genetic cause. A large number of mutations cause RP, and they can be deletions, insertions, or substitutions that cause missense mutations or truncations. The RHO, RP1, and RPGR genes contribute the greatest number of known mutations causative of RP. But there is no single mutation that alone accounts for more than 10% of unrelated patients. Genetic testing for RP therefore requires screening for a group of genes. High-throughput and automated sequence detection technologies are essential. Due to the complexity in phenotype and genetics, and the fact that RP is untreatable, genetic testing for presymptomatic diagnosis of RP is controversial. Meanwhile, new genes are still to be identified, mostly by family linkage and sib-pair analysis. Research on gene therapy for RP requires information on gene mutations causative of RP.

Photodynamic therapy with verteporfin for subfoveal choroidal neovascularisation of pathologic myopia in Chinese eyes: a prospective series of 1 and 2 year follow up.

AIMS: To evaluate the visual and fluorescein angiographic outcomes of photodynamic therapy (PDT) with verteporfin in patients with subfoveal choroidal neovascularisation (CNV) caused by pathologic myopia in the Chinese. METHODS: Prospective, non-comparative, two centre interventional study. Patients with CNV secondary to pathologic myopia of Chinese ethnicity were recruited and treated with a standard regimen of PDT with verteporfin. Results of this study in Chinese eyes with pigmented retinal pigment epithelium were compared with those from the Verteporfin in Photodynamic Therapy (VIP) Study of predominantly white eyes. RESULTS: Thirty one and 22 eyes that completed the 12 month and 24 month follow up studies respectively were analysed. The mean and median best corrected visual acuities (BCVA) could be maintained at the baseline level at the 12 month and 24 month visits. Fourteen (63.6%) eyes had stable or improved BCVA at 24 months and six (27.3%) of them had a moderate gain in vision (improved by three or more lines). Visual results were comparable with that of the VIP study, but the average accumulative PDT treatments required in one and two years were 1.7 and 2.3 respectively, which were significantly less than 3.4 and 5.1 treatments in VIP study. Mean logMAR BCVA of the younger age group (<55 years) at 24 months was 0.41 (SD 0.29), which was significantly better than the older age group (>/= = 55 years) of 0.82 (SD 0.40) (Mann-Whitney U test, p = 0.029). CONCLUSIONS: PDT using the predetermined treatment protocol has achieved similar visual outcomes in the Chinese population as in white people with subfoveal myopic CNV over a 2 year study period. The complete cessation of CNV leakage can be accomplished, on average, with fewer PDT retreatments than reported in the VIP study. The disparity may be due to ethnic differences in these two populations.