Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation. METHODS: A retrospective chart review of demographic and ophthalmologic data was performed for 18 children carrying either the S252W (11) or the P253R (7) mutation. Fisher exact tests were performed to determine significance of variable phenotypes between the two mutation groups. RESULTS: In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005). CONCLUSIONS: Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. They also are more likely to develop astigmatic refractive errors and tearing secondary to nasolacrimal system anomalies.     

Amblyopia in myopia in patients with strabismus and without strabismus

PURPOSE: To determine factors, which have influence on presence of strabismus among myopic patients with amblyopia. MATERIAL AND METHODS: Material covers 21 myopic patients with amblyopia, aged 6-15. All children presented have a different amount of anisometropia, 12 of them had strabismus. Authors, compared the group of patients with amblyopia and strabismus (12) with the group of patients with pure anisometropic amblyopia (9), according to the following criteria: age of presentation, best corrected visual acuity, mean refraction error of amblyopic eye, mean amount of anisometropia, percentage of patients with central fixation and binocular vision. RESULTS: Patients with strabismus presented oneself earlier than patients without squint. Best corrected visual acuity was better in patients without strabismus. Refraction error in both groups has similar value. Amount of anisometropia was slightly smaller in the group with squint. Central fixation and binocular vision were better preserved among patients without strabismus. Authors didn't find the following correlations too: correlation between amount of anisometropia and amount of amblyopia in both groups, correlation between amount of anisometropia and the amount of the deviation of squinting eye, correlation between depth of amblyopia and the amount of deviation of the squinting eye. CONCLUSION: It seems, that primary factor leading to presence of strabismus among patients with anisometropic myopia, is motor dysfunction of extraocular muscles.     

Factors influencing visual outcome in anisometropic amblyopes

Aim: To identify which factors influence the final visual acuity in children with anisometropic amblyopia. METHODS: A retrospective analysis of 112 children with anisometropic amblyopia, identified from examining all case notes of children who had failed preschool or school screening. RESULTS: The age at presentation had no effect on the final visual outcome (p=0.804). Both the degree of refractive error and the degree of anisometropia at presentation correlated with final visual acuity (p<0.001 and p=0.001). Those with strabismus had a poorer final outcome. CONCLUSIONS: The age at presentation of a child with anisometropic amblyopia appears to have no significant effect on the final visual acuity. The amount of refractive error and degree of anisometropia at presentation do correlate strongly with final visual acuity. This would suggest, firstly, that children with poorer visual acuity at presentation and higher degrees of anisometropia should be treated more aggressively and that, secondly, children with anisometropic amblyopia should be treated regardless of age.     

屈光参差性弱视与斜视性弱视临床疗效的比较

目的:分析比较屈光参差性与斜视性弱视的治疗效果。方法:前瞻性研究。2018-07/2020-01在我院门诊确诊的并首次接受治疗的单眼弱视患者46例,平均年龄9±3岁,其中男26例,女20例,按照临床诊断分为斜视性弱视组(无屈光不正),共23例,平均年龄9±3岁,其中男12例,女11例。以及屈光参差性弱视组,共23例,平均年龄9±3岁,其中男14例,女9例。对两组患者采用遮盖及精细训练治疗弱视,于治疗前及治疗后采用国际标准视力表检测视力、用Titmus图谱行立体视锐度的检测。比较两组患者经弱视治疗前后最佳矫正视力及立体视恢复的差异。结果:治疗前两组患者弱视眼的最佳矫正视力无差异(t=-0.475,P>0.05),但斜视性弱视患者的立体视功能明显低于屈光参差性弱视患者(t=-3.919,P<0.001);通过2mo的治疗,两组患者最佳矫正视力提高值有明显差异(t=-2.946,P<0.01),而两组患者立体视提高值无差异(t=1.305,P>0.05);通过6mo的治疗,两组患者最佳矫正视力提高差值有明显差异(t=-2.353,P<0.05),两组患者立体视提...     

Relationship between anisometropia, patient age, and the development of amblyopia

PURPOSE: Previous studies evaluating the effect of anisometropia on amblyopia development have been biased because subject selection occurred as a result of decreased acuity. Photoscreening identifies anisometropic children in a manner that is not biased by acuity, and allows an opportunity to evaluate how patient age influences the prevalence and depth of amblyopia. DESIGN: Retrospective observational study of preschool children with anisometropia. METHODS: A statewide preschool photoscreening program screened 119,311 children and identified 792 with anisometropia >1.0 diopters. We correlated age with visual acuity and amblyopia depth. Results were compared with 562 strabismic children similarly identified. RESULTS: Only 14% (six of 44) of anisometropic children aged 1 year or younger had amblyopia. Amblyopia was detected in 40% (32 of 80) of 2-year-olds, 65% (119 of 182) of 3-year-olds, and 76% of 5-year-olds. Amblyopia depth also increased with age. Moderate amblyopia prevalence was 2% (ages 0 to 1), 17% (age 2), and rose steadily to 45% (ages 6 to 7). Severe amblyopia was rare for children aged 0 to 3, 9% at age 4, and 14% at age 5. Children with strabismus had a relatively stable prevalence (30% ages 0 to 2; 42% ages 3 to 4; and 44% ages 5 to 7) and depth of amblyopia. CONCLUSIONS: Younger children with anisometropia have a lower prevalence and depth of amblyopia than older children. By age 3, when most children undergo traditional screening, amblyopia has usually already developed. New vision screening technologies that allow early detection of anisometropia provide ophthalmologists an opportunity to intervene early, perhaps retarding or even preventing the development of amblyopia.     

Results of amblyopia therapy in eyes with unilateral structural abnormalities.

PURPOSE: The purpose of this study is to analyze the visual results of full-time occlusion therapy in pediatric patients with monocular structural abnormalities and amblyopia. METHODS: The authors reviewed the charts of visually immature patients with unilateral structural abnormalities and decreased visual acuity, who presented to the University of Iowa Hospitals and Clinics over a 20-year period, and underwent amblyopia therapy. The results were categorized according to the type of structural abnormality (i.e., partial media opacity, macula lesion, or optic nerve abnormality). Associated factors, including anisometropia, strabismus, age of presentation, and pupillary responses, were analyzed. RESULTS: Fifty-one percent of the 51 patients in the study achieved a visual acuity of at least 20/80, including 72% of the patients with media opacities, 42% with macular lesions, and 21% with optic nerve anomalies. Strabismus and anisometropia occurred frequently and were not prognostically significant. Relative afferent pupillary defects did not contraindicate good results. Amblyopia recurred in 31% of patients and was successfully treated with resumption of full-time occlusion. Occlusion amblyopia occurred in only one patient and was easily reversed. CONCLUSION: The authors recommend a trial of full-time occlusion for patients with all three types of unilateral structural abnormalities. The patients with partial media opacities have a high success rate. Despite lower success rates for the other two groups, good results are possible; no better treatment option exists.     

屈光手术在成人斜视弱视领域中的应用

屈光手术包括角膜屈光手术和眼内屈光手术,不仅仅用来矫正单纯的屈光不正,其在治疗斜弱视领域也担任着重要角色。本文系统介绍了屈光手术在治疗儿童以及成人屈光参差性弱视以及调节性内斜视方面的一些研究进展,尤其是在治疗成人屈光参差性弱视和调节性内斜视方面,显示出独特的疗效,本文对此进行综述。     

Fixation preference for the affected eye in patients with unilateral Duane syndrome.

Duane retraction syndrome is a congenital incomitant strabismus caused by dysinnervation of the medial and lateral rectus muscles. Patients with unilateral Duane syndrome (80-90% of cases) who exhibit a fixation preference tend to prefer the unaffected eye. We describe 8 patients with unilateral Duane syndrome who prefer the affected eye. The most frequent associated ophthalmic finding was decreased vision in the unaffected eye from anisometropia and/or amblyopia. An additional associated finding was decompensated intermittent exotropia in 2 patients.     

An analysis of high myopia in a pediatric population less than 10 years of age.

PURPOSE: The purpose of this article is to document a comprehensive clinical profile-including the prevalence of amblyopia, strabismus, and anisometropia-of a pediatric population less than 10 years of age who manifested 6.00 diopters or more of myopia. METHOD: A retrospective record review was performed on all pediatric patients less than 10 years of age, examined at the State University of New York (SUNY) State College of Optometry between 1998 and 2001, and with a spherical equivalent of 6.00 diopters or more of myopia. RESULTS: One hundred seventy-eight patients met the criteria. Amblyopia or reduced corrected visual acuity was present in 75.8% of the patients. Strabismus was present in 31.5% of the patients, with essentially equal numbers of esotropes and exotropes. Anisometropia was present in 35.4% of the patients. One hundred forty-five patients had high myopia in the absence of significant ocular or systemic compromising conditions. In this sample of 145, strabismus or anisometropia was an etiology for amblyopia. There was a greater prevalence of bilateral high myopia (64.8%) than unilateral high myopia. Anisometropia was present in 10.6% of the bilateral high myopes, and 78.4% of the unilateral high myopes. CONCLUSION: Children less than 10 years of age with high myopia have a high risk of having amblyopia, strabismus, and anisometropia.     

Prevalence and causes of visual impairment in craniosynostotic syndromes

BACKGROUND: To assess the prevalence and causes of visual impairment in patients with craniosynostotic syndromes of Apert, Crouzon, Pfeiffer, Saethre-Chotzen and craniofrontonasal dysplasia. METHODS: The medical records of patients who attended the Craniofacial Clinic at two large paediatric hospitals in Sydney, Australia between 1983 and 2004 were retrospectively reviewed. Presenting visual acuity (VA) was assessed using tests appropriate to age and cognition: 'fix and follow' in infants (<18 months old), Teller card acuity in preverbal children (18 months to less than 3 years old), Kay picture test or Sheridan-Gardiner test in children aged between 3 and less than 6 years and Snellen chart in those aged 6 years or older. Visual impairment was defined as the inability to fix and follow or presenting VA < 6/12 in the better eye. Amblyopia was defined as a two-line difference in VA between both eyes in the absence of an organic eye disease. RESULTS: Sixty-three patients with craniosynostotic syndromes were identified, of whom 55 had VA assessed at the first visit. Of these 55, 19 (35.5%) had bilateral visual impairment and 5 (9.1%) had unilateral visual impairment. Causes of visual impairment include amblyopia (16.7%), ametropia (25%), optic atrophy (16.7%) and exposure keratopathy (4.2%). Risk factors for amblyopia include strabismus (43.3%), astigmatism (> or =1.5 dioptres) (39.5%), hypermetropia (18.4%) and anisometropia (> or =1.5 dioptre difference between both eyes) (15.8%). Six of the 63 patients (9.5%) had papilloedema; those who were followed up showed gradual resolution of papilloedema following timely decompressive surgery. CONCLUSIONS: A high prevalence of visual impairment in patients with craniosynostotic syndromes was found, almost half of them due to potentially correctable causes, including amblyopia and ametropia. Optic atrophy remains an important cause of visual impairment. Further studies are needed to assess the timing and efficacy of intervention for modifiable causes of visual loss in craniosynostotic syndromes.     

Factors affecting the stability of visual function following cessation of occlusion therapy for amblyopia

Aim To identify factors that predict which children with amblyopia are at greatest risk of regression of visual acuity (VA) following the cessation of occlusion therapy. Method A retrospective analysis was performed of 182 children (mean age at cessation of treatment; 5.9±1.6 years) who had undergone occlusion therapy for unilateral amblyopia, and had been followed up at least once within 15 months of cessation. Statistical analysis was used to identify whether change in VA following treatment cessation had any association with various factors, including the child’s age, type of amblyopia, degree of anisometropia, initial severity of amblyopia, binocular vision status, length and dose of occlusion therapy, and VA response to treatment. Results At 1 year, follow-up from treatment cessation, children with “mixed” amblyopia (both anisometropia and strabismus) demonstrated significantly (p=0.03) greater deterioration in VA (0.11±0.11 log units) than children with only anisometropia (0.02±0.08 log units) or only strabismus (0.05±0.10 log units). However, none of the other factors investigated were found to be significant predictors. Conclusion This study supports previous research that it is possible to identify those children most at risk of deterioration in VA following cessation of occlusion therapy. The presence of mixed amblyopia was the only risk factor identified in this study. Management of amblyopia should take this into account, with a more intensive follow-up recommended for those with both anisometropia and strabismus (mixed) amblyopia.     

Ocular complications of autoimmune polyendocrinopathy syndrome type 1

PURPOSE: To report the ocular complications in a series of patients with autoimmune polyendocrinopathy syndrome, type 1 (APS1). METHODS: A retrospective study of 17 patients with APS1 syndrome treated at the department of ophthalmology, Our Lady's Hospital for Sick Children in Crumlin, Dublin, Ireland. All patients had clinical manifestations of the disease in keeping with the diagnostic criteria of APS1. Each patient had a comprehensive ophthalmic history taken and examination, including ocular symptoms, best-corrected visual acuity, slit-lamp biomicroscopy, tear film evaluation, and dilated ophthalmoscopic examination. RESULTS: Six of 17 patients (35%) had corneal changes. Two patients (12%) had severe keratoconjunctivitis requiring hospitalization and intensive topical steroids and lubricants. The inflammation resulted in visual acuity reduction in one patient secondary to central corneal scarring. Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and myopia (5.9%). CONCLUSIONS: The most common and clinically important ocular manifestation of APS1 was keratoconjunctivitis associated with dry eye. This can result in progressive corneal scarring and vision loss.     

Post-LASIK corneal flap displacement following penetrating keratoplasty for bullous keratopathy

OBJECTIVE: To report 3 patients who experienced late flap dislocation after laser in situ keratomileusis (LASIK) in eyes that had undergone prior penetrating keratoplasty (PKP) for bullous keratopathy. METHODS: Retrospective chart review of 2 referral corneal and refractive surgery practices, case reports, and literature review. RESULTS: Three patients (mean age 58.3 years, 2 male, 1 female), all status post-corneal transplant for bullous keratopathy, had residual myopic astigmatism and underwent LASIK for correction of their significant anisometropia. Flap dislocation occurred at a mean of 7 days (range 3 to 14 days) following the LASIK procedure. All patients had peripheral corneal edema in their recipient bed. All 3 patients required an additional surgical procedure for visual rehabilitation. CONCLUSION: Flap displacement may occur following LASIK in patients who have undergone PKP for bullous keratopathy. The endothelial pump function, which is vital to maintaining flap adherence, may be compromised in these patients. We suggest that patients with a history of PKP and endothelial compromise who undergo LASIK wear protective shields for a longer than normal period and be followed closely to reduce the risk of flap slippage.     

Amblyopia without strabismus in context of research on concomitant strabismus

PURPOSE: To evaluate pathogenic factors for unilateral amblyopia in the group of amblyopic patients without strabismus. MATERIAL AND METHODS: In the study 141 patients with unilateral amblyopia without strabismus were evaluated according to age, sex, visual acuity, refraction error, presence of anisometropia, age of mother on delivery, weight on birth, hereditary transmission of strabismus or refractive error, pregnancy and delivery complications, response to treatment. RESULTS: Serious birth and pregnancy complications were noted only in 14.2% of cases, hereditary transmission might be suspected in 41.2% of patients. Anisometropia was found in 72% of cases. No significant difference in prevalence of possible pathogenic or risk factors such as age, sex, birth-weight, age of mother on delivery, hereditary transmission, pregnancy or delivery complications were found between anisometropic and isometropic group. Anisometropic group had bigger refractive error and deeper amblyopia, but responded better to treatment. CONCLUSION: Etiology of amblyopia without strabismus, particularly in the group of patients with isometropia, should be associated with trauma to central nervous system either in pre-natal or early after birth period.     

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Purpose: To determine the optimal age for surgical correction of blepharophimosis. Associated features and their effects on incidence of amblyopia were also investigated. Methods: The study was a retrospective case series of 28 patients with blepharophimosis, ptosis and epicanthus inversus syndrome presenting to a tertiary referral eyelid, lacrimal and orbital clinic. Results: Amblyopia was present in 39% of patients. Patients with coexistent strabismus had a 64% incidence of amblyopia compared to 24% for those without strabismus. Hypermetropia was present in 43% of patients and 7% were myopic. Significant astigmatism was found in 40% of patients, but these factors did not increase the risk of amblyopia. Patients with severe ptosis had lower rates of amblyopia than those with moderate ptosis but had their ptosis corrected at a median age of 2 years compared to 5 years for those with moderate ptosis. There was an 18% incidence of nasolacrimal drainage problems. A good to excellent cosmetic outcome was achieved in 86% of patients. A positive family history was noted in 75% of patients, usually with paternal inheritance. Conclusions: Patients with blepharophimosis have a high rate of amblyopia. Co‐existent strabismus doubles the risk of amblyopia. Ptosis alone causes mild to moderate amblyopia only. Patients with severe ptosis should have their ptosis corrected before 3 years of age, and all other patients should undergo surgery before 5 years of age.     

Ocular findings in Jacobsen syndrome.

PURPOSE: To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS: Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of abnormal ophthalmologic examination findings. A total of 63 previously reported cases were identified from Medline and analyzed for ophthalmologic abnormalities. RESULTS: The most common ophthalmologic findings in the new cases of Jacobsen syndrome included strabismus (90.0%), refractive error (90.0%), and ptosis (70.0%). Facial dysmorphism was also common and included hypertelorism, epicanthal folds, and down-slanting palpebral fissures. Uncommon ophthalmic findings included 5 patients with retinal vascular tortuosity, 1 with glaucoma, and 3 with amblyopia. In 63 cases reviewed, 36 reported ophthalmologic abnormalities. The most common findings included facial anomalies and ptosis. Only 5 of the 63 patients had evidence of strabismus, and none were reported to have retinal vascular tortuosity. CONCLUSIONS: To prevent unnecessary vision loss in children with Jacobsen syndrome, proper screening for amblyogenic factors is imperative. We recommend a baseline complete ophthalmologic examination with subsequent follow-up examinations depending on the particular findings noted during the initial screening visit.     

准分子激光手术在矫治儿童严重屈光参差性弱视中的作用

儿童严重屈光参差患者的弱视发生率高达66.67%,其中28.30%患儿终致视力残疾.近十年准分子激光手术矫治儿童严重屈光参差的研究表明,该手术是安全、有效的,可预测性及稳定性均较好,为儿童屈光参差性弱视治疗提供了一个良好的条件.术后进行规范的弱视治疗,提高了治愈率,降低了致残率.然而,儿童屈光手术矫治起始年龄、等值球镜的矫治范围、术后角膜剩余厚度等有待规范.术后儿童角膜修复机制的研究有待深入.     

The relationship between stereopsis and visual acuity after occlusion therapy for amblyopia

PURPOSE: To investigate the relationship between visual acuity (VA) and stereoacuity after occlusion therapy in patients with various types of amblyopia. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Sixty-one children with amblyopia caused by anisometropia with no strabismus (26 children), small angle (相似文献   

Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.

BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry mutations in the TWIST and fibroblast growth factor receptor (FGFR) 3 genes, respectively. We sought to assess possible ocular phenotypic differences in patients with mutations of either gene previously grouped according to phenotype only. METHODS: A retrospective chart review was performed for 21 children with known mutations of the TWIST (n=10) or the FGFR3 (n=11) genes. Data gathered included patient sex, age, family craniofacial history, craniofacial and ophthalmic surgeries, type of strabismus, ptosis, cycloplegic refraction, visual acuity, the presence of amblyopia, nasolacrimal duct obstruction (NLDO), nystagmus, hypertelorism, epicanthal fold anomalies, and any ocular structural abnormalities. RESULTS: In the TWIST group, ptosis was present in 90%, amblyopia in 70%, horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%. In the FGFR3 group, ptosis was present in 36%, amblyopia in 18%, horizontal strabismus in 55%, vertical strabismus in 36%, NLDO in 0%, astigmatism in 9%, IOOA in 45%, hyperopia in 27%, myopia in 18%, nystagmus in 18%, and optic nerve findings in 27%. CONCLUSIONS: Patients with TWIST gene mutations may have more ophthalmic abnormalities, including more strabismus, ptosis, NLDO, astigmatism, vertical deviations, and amblyopia compared with patients with FGFR3 gene mutations.     

Natural history of infantile anisometropia.

AIMS/BACKGROUND: In a previous study longitudinal changes of anisometropia were investigated. It was shown that anisometropia arises and vanishes during the emmetropisation process and that the associated risk for amblyopia is low. The aim of this study was to follow acuity and refraction longitudinally in children with marked anisometropia at 1 year of age. METHODS: Refractive errors and visual acuity were estimated every sixth month for a selected group of 20 children with marked anisometropia > or = 3.0 D (spherical equivalent) at 1 year of age from approximately 3 to 10 years of age. RESULTS: The children could be classified into three groups. In six subjects the anisometropia increased (mean 1.4 D) and they all developed amblyopia. The remaining children could be classified into two groups of equal size. One group developed no amblyopia and the anisometropia decreased with a mean of 3.0 D. The seven remaining children developed amblyopia and/or strabismus; the mean anisometropia decrease was 1.2 D. CONCLUSION: Anisometropia at 1 year of age that is larger or equal to 3.0 D will in 90% of the cases still be there at 10 years of age. There is a substantial risk of this group developing amblyopia (60%).