Three different ophthalmic presentations of juvenile xanthogranuloma.

Three cases of juvenile xanthogranuloma from two ophthalmology departments were reviewed. Clinical histories, ophthalmic examination, physical examination, investigations, and treatment of these cases are described. A 4-month-old boy presented with spontaneous hyphema and secondary glaucoma. He was treated with intensive topical steroid and anti-glaucomatous eye drops. The hyphema gradually resolved and the intra-ocular pressure reverted to 11 mm Hg without any other medication. Biopsy of his scalp mass confirmed the diagnosis of juvenile xanthogranuloma. A 31-month-old boy presented with a limbal mass. Excisional biopsy of the mass was performed and confirmed it was a juvenile xanthogranuloma. A 20-month-old boy was regularly followed up for epiblepharon and astigmatism. He presented to a paediatrician with a skin nodule over his back. Skin biopsy confirmed juvenile xanthogranuloma. He had no other ocular signs. Presentation of juvenile xanthogranuloma can be very different, about which ophthalmologists should be aware of. Biopsy of the suspected lesion is essential to confirm the diagnosis.

Adjunctive effect of acupuncture to refractive correction on anisometropic amblyopia: one-year results of a randomized crossover trial.

OBJECTIVES: To evaluate the safety and adjunctive effect of acupuncture added to refractive correction for anisometropic amblyopia in younger children. DESIGN: Prospective, randomized, controlled, crossover trial. PARTICIPANTS: We included 83 children aged 3 to <7 years with untreated anisometropic amblyopia and baseline best-corrected visual acuity (BCVA) of 20/40 to 20/200 in the amblyopic eye. METHODS: Participants were randomized to receive spectacles alone (group 1; n = 42) or spectacles + acupuncture (group 2; n = 41) for 15 weeks, and were then crossed over to receive the other regimen for another 15 weeks. The BCVA in both eyes was measured at baseline and every 5 (±1) weeks for the initial 45 weeks and at 60 (±1) weeks. MAIN OUTCOME MEASURES: BCVA in the amblyopic eye at 15, 30, and 60 weeks. RESULTS: The mean baseline BCVA in the amblyopic eye was 0.50 and 0.49 logarithm of the minimum angle of resolution (logMAR) in groups 1 and 2, respectively. After 15 weeks of treatment, the BCVA had improved by a mean of 2.2 lines in group 1 and 2.9 lines in group 2. The mean difference in BCVA between groups was 0.77 lines (95% confidence interval (CI), 0.29-1.3; P = 0.0020) with baseline adjustment. BCVA of ≤0.1 logMAR was achieved in 14.6% of the patients in group 1 and 57.5% in group 2 (P<0.00010). After the regimens were crossed over at 30 weeks, group 1 had a mean of 1.2 (95% CI, 0.98-1.48; P = 2.0 × 10⁻¹²) lines additional improvement from the 15-week BCVA, whereas in group 2 the mean improvement was 0.4 (95% CI, 0.19-0.63; P = 0.0010) lines. The proportions of responders, resolution, and participants achieving a BCVA of ≤0.1 logMAR at 30 weeks were similar between groups. After completion of acupuncture, only 1 participant had >1 line of VA decrease to 60 weeks. Acupuncture was well-tolerated by all children, and no severe adverse effect was encountered. CONCLUSIONS: Acupuncture is a potentially useful complementary treatment modality that may provide sustainable adjunctive effect to refractive correction for anisometropic amblyopia in young children. Further large-scale studies seem warranted. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Change in vision disorders among Hong Kong preschoolers in 10 years.

BACKGROUND: To determine the change in refractive error and the prevalence of amblyopia and strabismus among preschool children in Hong Kong over a period of 10 years. DESIGN: Two cross-sectional population-based studies conducted in 1996 to 1997 (part A) and 2006 to 2007 (part B) PARTICIPANTS: Children attending randomly selected kindergarten participated in the study. METHODS: Ocular alignment, visual acuity, cover and uncover tests, cycloplegic refraction, slit-lamp and fundi examination were performed under a standardized testing environment. MAIN OUTCOME MEASURES: The prevalence of amblyopia (best-corrected visual acuity ≤6/12 in one or both eyes, or a bilateral difference of ≥2 best-corrected visual acuity lines), strabismus and significant refractive error (hyperopia ≥+2.50 D; myopia ≥-1.00 D; astigmatism ≥2.00 D) among preschool children. RESULTS: Of the 601 children in part A of the study, reduced visual acuity was presented in 3.8%; whereas strabismus was found in 1.8%. The commonest type of refractive error was astigmatism in 6.3% of children, followed by hyperopia (5.8%) and myopia (2.3%). Among 823 children in part B, reduced visual acuity was presented in 2.7% of children, and strabismus was found in 1.7%. The commonest type of refractive error was myopia (6.3%), followed by astigmatism (5.7%) and hyperopia (5.1%). The percentage of children having myopia has significantly increased (P = 0.001). CONCLUSION: A significant increase in myopia has been noted in Hong Kong preschoolers. Visual screening programmes may need to be tailored to correspond to the local population and be adjusted accordingly from time to time.

Clinical study on cognitive dysfunction after spontaneous subarachnoid haemorrhage: patient profiles and relationship to cholinergic dysfunction.

PURPOSE: We aimed to explore the cognitive profiles of subarachnoid haemorrhage patients who returned to the community, along with the associated risk factors. METHODS: We recruited 40 Chinese patients with spontaneous subarachnoid haemorrhage 7-27 months after the initial presentation. They had all been discharged to their homes or to care homes for the elderly. For cognitive assessment, we employed the Cognitive Subscale of the Alzheimer Disease Assessment Scale (ADAS-cog) for global cognitive function, the Frontal Assessment Battery (FAB) for frontal lobe function, and the Rivermead Behavioural Memory Test (RBMT) for everyday memory function. RESULTS: An ADAS-cog of more than 21/85 (poor global cognitive function) was noted in 14 (35%) patients. A FAB of less than 12/18 (poor frontal lobe function) was noted in 13 (27.5%) patients. An RBMT score of less than 15/26 (poor everyday memory function) was noted in 17 (43.6%) patients. Poor cognitive function was found to be associated with chronic hydrocephalus (in terms of FAB), with clinical vasospasm (in terms of RBMT), and with cerebral infarction (in terms of RBMT). CONCLUSIONS: Poor cognitive function was common and occurred in up to 43.6% of the patients, with the verbal and behavioural memory aspects predominantly affected. We did not find a significant association between cholinergic dysfunction and cognitive dysfunction. Organization of future drug trials and cognitive rehabilitation should take into account the association between frontal lobe dysfunction and chronic hydrocephalus.

An unusual complication after strabismus surgery.

Orbital cellulitis is rarely reported after strabismus surgery; fewer than 10 cases have been reported. Nonetheless, orbital cellulitis is a potentially sight- and life-threatening condition. A high index of suspicion, use of a multidisciplinary approach, early diagnosis, aggressive treatment, and close monitoring are all important means of avoiding potentially irreversible visual loss and systemic complications. We report a case where early use of aggressive treatment to manage a post-strabismus surgery infection led to a good outcome.

Serous retinal detachment in Joubert syndrome.

This report describes a 3-year-old Chinese-Italian boy with Joubert syndrome. Fundus examination showed bilateral optic disc coloboma. Left serous retinal detachment was also found. This ocular finding was not reported in the previous literature. Although Joubert syndrome has many variable phenotypes and the molecular basis is still unknown, the newly reported ocular features suggest that a different genetic form may be present.

The effect of parental history of myopia on children's eye size and growth: results of a longitudinal study.

PURPOSE: To evaluate the effect of parental myopia on eye size and growth in Chinese children. METHODS: A school-based, cross-sectional survey was performed in Chinese children 5 to 16 years of age. A longitudinal cohort study was conducted 1 year later. The effects of parental myopia, parental education level, and near work performed by the child on the refractive error and ocular biometry of the child were assessed. RESULTS: There were 7560 children enrolled in the initial study (response rate: 76.3%). One year later, 4468 children (response rate: 75.9%) in the original cohort (with the exception of those who had completed primary schooling) were evaluated, to determine eye growth. Although children with a stronger parental history of myopia tended to be less hyperopic before the onset of myopia (spherical equivalent refraction [SER] = 0.43 D, 0.67 D, and 0.68 D in children with two, one, and no myopic parents respectively; P = 0.007), the axial lengths did not follow the same pattern (axial length [AL] = 23.11, 23.07, and 23.15 mm; P = 0.429). Eye growth and myopic shift in refraction occurred more rapidly among children with a stronger parental history of myopia (annual AL growth/myopia progression = 0.37 mm/-0.22 D, 0.26 mm/-0.07 D, and 0.20 mm/-0.02 D in children with two, one, and no myopic parents, respectively; P < 0.001). CONCLUSIONS: Ocular biometric data in Chinese children suggest that parental history of myopia influences the growth rate of the eye, rather than its size before the onset of myopia, as previously reported in Caucasian children. Further longitudinal studies involving children of different ethnicities are warranted.

Randomized trial of early phacoemulsification versus peripheral iridotomy to prevent intraocular pressure rise after acute primary angle closure.

PURPOSE: To compare the efficacy of early phacoemulsification versus laser peripheral iridotomy (LPI) in the prevention of intraocular pressure (IOP) rise in patients after acute primary angle closure (APAC). DESIGN: Prospective randomized controlled trial. PARTICIPANTS: Sixty-two eyes of 62 Chinese subjects, with 31 eyes in each arm. METHODS: Subjects were randomized to receive either early phacoemulsification or LPI after aborting APAC by medications. Patients were followed up on day 1; week 1; and months 1, 3, 6, 12, and 18. Predictors for IOP rise were studied. MAIN OUTCOME MEASURES: Prevalence of IOP rise above 21 mmHg (primary) and number of glaucoma medications, IOP, and Shaffer gonioscopy grading (secondary). RESULTS: Prevalences of IOP rise for the LPI group were 16.1%, 32.3%, 41.9%, and 46.7% for the follow-ups at 3, 6, 12, and 18 months, respectively. There was only one eye (3.2%) in the phacoemulsification group that had IOP rise at all follow-up time points (P<0.0001). Treatment by LPI was associated with significantly increased hazard of IOP rise (hazard ratio [HR], 14.9; 95% confidence interval [CI], 1.9-114.2; P = 0.009). In addition, a maximum IOP at presentation > 55 mmHg was associated with IOP rise (HR, 4.1; 95% CI, 1.3-13.0; P = 0.017). At 18 months, the mean number of medications required to maintain IOP 55 mmHg is an added risk factor for subsequent IOP rise. For patients with coexisting cataract and presenting IOP of >55 mmHg, early phacoemulsification can be considered as a definitive treatment to prevent IOP rise.

Prenatal screening for retinoblastoma in Hong Kong.

We report the first use in Hong Kong of molecular techniques to screen prenatally for retinoblastoma and review 17 cases of retinoblastoma seen at the Hong Kong Eye Hospital from 2001 to 2006. A pregnant couple whose first child had retinoblastoma requested prenatal screening for retinoblastoma during their second pregnancy in 2000. Whole RB1 coding gene sequencing was performed on peripheral blood cells taken from family members and cultured amniocytes collected from the foetus during the 14th week of gestation. No RB1 gene mutations were found in the amniocyte samples and at birth the baby had no evidence of ocular tumours. During 5 years of follow-up the child remained healthy with intact visual function. Prenatal diagnosis of retinoblastoma alleviates parental stress and improves the perinatal care of affected family members.

Anterior segment ischemia after two-muscle surgery in a patient with radiation-treated nasopharyngeal carcinoma.

Anterior segment ischemia after strabismus surgery is a rare occurrence. Risk factors include single-stage surgery of three or more muscles in one eye, dysthyroid eye disease, and advanced age. The authors report a case of anterior segment ischemia after single-stage surgery of two horizontal muscles without previous reported risk factors. However, the patient had received radiotherapy for nasopharyngeal carcinoma more than 20 years ago. The case was successfully treated with systemic steroids but with reduced best-corrected visual acuity. Previous radiotherapy in the related orbital field may be a new risk factor for this condition.

Topical atropine in retarding myopic progression and axial length growth in children with moderate to severe myopia: a pilot study.

PURPOSE: To study the safety and efficacy of topical 1% atropine eye ointment in retarding myopic progression in children with moderate to severe myopia. METHODS: This was an interventional control study. Children (aged 5-10 years) with myopia of -3.00 diopters (D) or more were treated with 1% atropine ointment once daily for 1 year. Baseline and regular assessments of refractive errors by cycloplegic autorefraction and of axial length were done by ultrasound biometry, and the results were compared with data of control subjects. RESULTS: Twenty-three children (mean age: 7.4 +/- 1.6 years) with moderate to severe myopia, being treated in the Hong Kong Eye Hospital of the Chinese University of Hong Kong, were recruited into the atropine group, and 23 children from the same eye clinic were matched with the study subjects with respect to age, sex, and initial spherical equivalent refraction, as controls. The initial refractive errors were -5.18 +/- 2.05 D and -5.12 +/- 2.33 D in the atropine and the control groups, respectively (P = 0.934). Myopic progression was significantly less (P = 0.005) in the atropine group (+0.06 +/- 0.79 D) than in the control group (-1.19 +/- 2.48 D). Axial length increase was also significantly smaller in the atropine group (0.09 +/- 0.19 mm) than in the control group (0.70 +/- 0.63 mm) (P = 0.004). One child (4.3%) developed an allergic reaction. No other major adverse effects related to the treatment were noted. CONCLUSION: Topical 1% atropine ointment is a safe and effective treatment for retarding myopic progression in moderate to severe myopia. Further large-scale randomised controlled study with longer follow-up seems warranted.

Changes in refraction and ocular dimensions after cataract surgery and primary intraocular lens implantation in infants.

PURPOSE: To study refraction and axial length changes after cataract extraction and primary intraocular lens (IOL) implantation in children younger than 1 year of age. SETTING: Two regional hospitals. METHODS: After determining the IOL power for emmetropia, 80% of the value was used to choose the IOL for implantation to counter anticipated myopic shift with age. The main outcome measures were changes in refraction and axial length 3 years after surgery. RESULTS: Thirty-four eyes of 20 children (mean age 6.7 months +/- 3.9 [SD]) were studied. Refraction in the immediate postoperative period was +4.53 +/- 1.45 diopters (D). Three years after surgery, the mean refraction was -2.49 +/- 3.08 D (P<.001). Twenty-two eyes (64.7%) had surgery during the first 6 months of life (group 1) and had a shorter axial length at surgery (mean 18.92 +/- 1.32 mm) compared with 12 eyes (35.3%) that received surgery between 7 and 12 months (group 2, mean 20.29 +/- 1.00 mm) (P = .007). However, the final axial length was greater in group 1 (mean 22.67 +/- 1.04 mm) than in group 2 (mean 21.23 +/- 0.26 mm) (P = .019). CONCLUSIONS: Primary IOL implantation is an option for children having cataract surgery in the first year of life. Significant myopic shifts occurred, and this seemed to be more pronounced in younger children. It appears that rethinking current strategies for IOL power calculation may be required to achieve more optimal refractive outcomes.

Multistage approach to uveitic cataract management in children.

Phototherapeutic keratectomy, cataract extraction and hydrophobic acrylic lens implantation, Nd:YAG laser capsulotomy, glaucoma valve implantation, and intravitreal steroid injections resulted in substantial visual improvement in three eyes of two children with complicated cataract due to severe uveitis. At follow-up of 6 months to 4 years, the children had clear corneas and normal intraocular pressures.

Updates on the surgical management of paediatric cataract with primary intraocular lens implantation.

With the advent of modern surgical techniques, paediatric cataract has become much more manageable. Intraocular lens (IOL) implantation is the standard of care for patients over the age of 2 years. The use of IOL in young infants is still controversial. In addition, there are still unresolved issues, such as the minimum age at which IOL can be safely implanted, IOL power selection and IOL power calculation. The current trends in the management of the above challenges are discussed. Although numerous reports on the prevention and management of posterior capsule opacification have been published, there are ongoing intensive debates and research. Long-term postoperative complications like glaucoma and rhegmatogenous retinal detachment are problems that cannot be overemphasised and these issues are also reviewed.

Clinical implications of promoter hypermethylation in RASSF1A and MGMT in retinoblastoma.

We investigated the epigenetic silencing and genetic changes of the RAS-associated domain family 1A (RASSF1A) gene and the O6-methylguanine-DNA methyltransferase (MGMT) gene in retinoblastoma. We extracted DNA from microdissected tumor and normal retina tissues of the same patient in 68 retinoblastoma cases. Promoter methylation in RASSF1A and MGMT was analyzed by methylation-specific PCR, RASSF1A sequence alterations in all coding exons by direct DNA sequencing, and RASSF1A expression by RT-PCR. Cell cycle staging was analyzed by flow cytometry. We detected RASSF1A promoter hypermethylation in 82% of retinoblastoma, in tumor tissues only but not in adjacent normal retinal tissue cells. There was no expression of RASSF1A transcripts in all hypermethylated samples, but RASSF1A transcripts were restored after 5-aza-2'-deoxycytidine treatment with no changes in cell cycle or apoptosis. No mutation in the RASSF1A sequence was found. MGMT hypermethylation was present in 15% of the retinoblastoma samples, and the absence of MGMT hypermethylation was associated (P = .002) with retinoblastoma at advanced Reese-Ellsworth tumor stage. Our results revealed a high RASSF1A hypermethylation frequency in retinoblastoma. The correlation of MGMT inactivation by promoter hypermethylation with lower-stage diseases indicated that MGMT hypermethylation provides useful prognostic information. Epigenetic mechanism plays an important role in the progression of retinoblastoma.

Failure of systemic antibiotic in preventing sequential endogenous endophthalmitis of a bronchiectasis patient.

PURPOSE: To report a rare presentation of bilateral, sequential Pseudomonas aeruginosa endogenous endophthalmitis in a woman with bronchiectasis. DESIGN: Interventional case report. METHODS: A 69-year-old woman with bronchiectasis developed right and then left endogenous endophthalmitis with the microbial of P. aeruginosa, even though a course of 3-week intravenous ceftazidime antibiotic was prescribed. RESULTS: The presentation of endogenous endophthalmitis in the right eye was late, and final visual acuity was hand movements. The condition was recognized much earlier in the left eye, and the infection was treated early on with vitrectomy and intravitreal antibiotics. Visual acuity at 1 year was stable at 20/40. CONCLUSION: Systemic antibiotic failed to eradicate the primary source of Pseudomonas infection in the bronchiectasis patient. Unusual, painful red eye may be the presenting feature of endogenous endophthalmitis. Early vitrectomy may be considered in endogenous endophthalmitis caused by virulent pathogens such P. aeruginosa.

Macular pigment optical density in a Chinese sample.

PURPOSE: Extensive efforts have been devoted to determining the macular pigment optical density (MPOD) in Caucasian subjects. Unfortunately, no such data in ethnic groups with naturally dark irises are currently available. In this study, we report the values in a sample of Chinese subjects. METHODS: The MPOD was measured psychophysically using a densitometer at 0.25 degrees , 0.50 degrees , 1.00 degrees , and 2.00 degrees eccentricity from the foveal center in 92 Chinese subjects. RESULTS: The spatial profile for the averaged MPOD was approximately exponential in form and showed a decline with age (r = -0.23). Subjects aged below 60 years had significantly higher averaged MPOD than those aged 60 years or above. Significant gender differences, in favor of males, were also found in the middle-age groups. CONCLUSIONS: Our study reports for the first time the MPOD in a Chinese population. Baseline information on MPOD would aid future research in preventive measures against age-related macular degeneration.

SR and LR Union Suture for the Treatment of Myopic Strabismus Fixus: Is Scleral Fixation Necessary?

PURPOSE: To evaluate and compare the effectiveness of scleral fixation SR and LR union suture and nonscleral fixation union suture for the treatment of myopic strabismus fixus. METHODS: Retrospective review of 32 eyes of 22 patients with myopic strabismus fixus who had undergone union suture of superior rectus (SR) and lateral rectus (LR) with or without scleral fixation, and follow-up longer than 6 months at Hong Kong Eye Hospital from 2006 to 2013. Surgical techniques and outcomes in terms of ocular alignment are analyzed. RESULTS: There is significant overall improvement both in postoperative angle of esodeviation (P < 0.01) and postoperative range of movement (P = 0.042). Comparing between the sclera fixation group (11 eyes) versus nonscleral fixation group (21 eyes), the postoperative horizontal deviation, the postoperative vertical deviation, successful outcome, and the change in horizontal deviation were not significantly different (P > 0.05). CONCLUSIONS: Union suture of SR and LR is an effective procedure in correcting myopic strabismus fixus. Fixation of the union suture to the sclera does not improve surgical outcome.

Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

We investigated sequence alternation, promoter methylation, and loss of heterozygosity (LOH) of the RB1 gene as possible mechanisms of its inactivation in retinoblastoma. In 42 Chinese patients with sporadic retinoblastoma, the promoter and entire coding region of RB1 were examined for sequence changes. Status of methylation of the CpG-rich island at the 5'end was determined by methylation specific PCR assay. We detected 15 RB1 mutations in 38% (16/42) of the retinoblastoma patients, among them 19% (8/42) were germ-line mutations. A total of nine novel mutations were identified: E54X, S114X, I126S, g73779insG, D718N, IVS2+1G>C, IVS14+1G>C, IVS21+1G>C, and a complex alteration g78177G>T/g78176insTT leading to 543X. Most of them are likely to affect the RB1large pocket domain through the production of truncated gene products. None of the DNA samples showed methylation at the RB1promoter. In 15 cases where both normal and cancerous retinoblastoma tissue specimens were available, allelic loss according to microsatellite markers within or distal to the RB1 locus was analyzed and immunohistological staining for RB1 expression performed. Among them, frequency of LOH at 13q14 was found to be high at 60% (9/15) with no segregation with unilateral tumors. All these nine tumors did not express RB1 protein, showing an association of LOH at the RB1 locus with its loss of expression in retinoblastoma. Our results indicate that the RB1 gene in sporadic retinoblastoma is commonly inactivated because of loss-of-function mutations and loss of heterozygosity but not by the epigenetic phenomenon of promoter hypermethylation.

TGFbeta-induced factor: a candidate gene for high myopia.

PURPOSE: To investigate the coding exons of transforming growth factor (TGF)-beta-induced factor (TGIF) for mutations in Chinese patients with high myopia. METHODS: Seventy-one individuals with high myopia of -6.00 D or less and 105 control subjects were screened by DNA sequencing for sequence alterations. Univariate analysis and logistic regression were performed to identify single-nucleotide polymorphisms (SNPs) and their interactions in TGIF that may be associated with myopia. RESULTS: Six SNPs showed a significant difference (P < 0.05) between patient and control subject in univariate analysis. Four of them cause codon changes: G223R, G231S, P241T, and A262G. Among all the SNPs that entered multivariate analysis, only 657(T-->G) showed statistical significance in the logistic regression model (odds ratio 0.133; 95% confidence interval 0.037-0.488; P = 0.002). CONCLUSIONS: TGIF is a probable candidate gene for high myopia. Further studies are needed to identify the underlying mechanism.