[Pay attention to abnormal vision screening for infants and young children].

World Heath Organization (WHO) put forward a global initiative to eliminate avoidable blindness by 2020. The avoidable blindness includes blindness in children such as amblyopia. The critical period of human visual development is from 0 to 3 years old when is just in the period of infancy and young childhood, therefore vision screening for infants and young children should be attached importance, which is critical significant to the children blindness prevention. Due to many aspects of causes, the vision and related risk factor screening for the infants and young children in China is still faced with many challenges. The article strengthened the aspects of the importance of vision screening for infants and young children and put forward some strategies and suggestions.

[Surgical treatment for correcting abnormal complicated head posture in nystagmus].

OBJECTIVE: To demonstrate the surgical choices for patients with complicated head posture associated with nystagmus. METHODS: It was a retrospective clinical study. Thirty-eight cases of congenital nystagmus with abnormal head posture in all three axes without strabismus were retrospectively analyzed. Twenty-nine(76.32%) cases whose dominant head posture were with face turn, 3 cases (7.89%) with chin up or down , respectively, were performed horizontal null zone shift as well as vertical null zone transposition; 2 cases (5.26%) with head tilt as the dominant position were underwent one tendon width transposition of all four vertical muscles;4 cases (10.53%)basically with the same degree for face turn and chip up or down, 2 cases were preferred with recess a group of horizontal yoke muscles and a group of vertical yoke muscles, the other 2 cases were combined with weaken both synergistic oblique muscles. SPSS 13.0 was used to analyse the difference of them. RESULTS: In 29 patients with horizontal head posture dominanted, 15 cases (68.18%) with 25 °-30 ° in horizontal head posture were corrected completely, 5°-15° was the residue for 7 cases (31.82%) with 35 °- 40 °degree in horizontal before surgery. 15 °-20° was residue for 3 cases larger than 40 ° before operation after modified Parks procedure. Anderson procedure can correct the angle of 15°-20° in 4 cases. The horizontal, vertical and torsional components of 22 cases whose predominant head posture were in horizontal with 25°-40° (3.18° ± 1.01°, 4.32° ± 1.14°, 4.55° ± 1.95°) were significantly reduced (t = 63.13, 3.57, 3.95;P < 0.01) after Parks procedure. Recession a group of vertical muscles 5mm or combined with oblique muscles in 3 patients could correct the 20° of vertical head posture, but the improvement of the other two axes was about 5°-10°.One tendon width transposition of all four vertical muscles in 2 cases could correct the 10° of head tilt and 10°-15°of chip up or down. Recession a group of horizontal and vertical muscles can correct 20°-25° of face turn and 20° of vertical head posture. CONCLUSIONS: When head turn with 25°-40°predominates over the vertical and torsional components, recess the horizontal muscles could be effective way in diminishing the abnormal head position on all three axes.When vertical or torsional head posture predominates for the complicated nystagmus, individual designs should be considered.When necessary, reoperations should be needed.

[The development and importance of molecular diagnosis in hereditary retinal diseases].

Hereditary retinal disease(HRD) is a group of retinal degenerations seen frequently at clinic,which can lead to severe visual impairments or even blindness.Identifying genetic causes and developing advanced and applicable molecular diagnostic tools for HRD is essential to lower the prevalence of HRD, and to find the therapeutic method of HRD. HRD is known to be both clinically and genetically heterogeneous. The large number of causative genes together with the limitation of routine technique hinder the investigators from further investigating the genetic causes of HRD. Targeted genes capture with next-generation high throughput sequencing yield high sensitivity and speed for mutation detection.When compared with traditional techniques, targeted sequencing presents tremendous advantages. Therefore, the development of a powerful molecular diagnostic platform for HRD aims to improve the detection rate of causative genes/mutations in HRD patients, to further investigate the genetic causes for HRD, to better understand the pathological basis of HRD, and to promote the fast development of molecular diagnosis in China. Meanwhile, it will have significance for the clinical and prenatal diagnosis of HRD, and thus providing rationale for gene therapy on HRD.

Small interference RNA targeting vascular endothelial growth factor gene effectively attenuates retinal neovascularization in mice model.

BACKGROUND: The mechanism of retinal neovascularization is not understood completely. Many growth factors are involved in the process of retinal neovascularization, such as vascular endothelial growth factor (VEGF) and pigment epithelium-deprived factor (PEDF), which are the representatives of angiogenic and antiangiogenic molecules respectively. Oxygen induced retinopathy (OIR) is a useful model to investigate retinal neovascularization. The present study was conducted to investigate the feasibility of small interference RNA (siRNA) targeting VEGF gene in attenuating oxygen induced retinopathy (OIR) by regulating VEGF to PEDF ratio (VEGF/PEDF). METHODS: In vitro, cultured EOMA cells were transfected with VEGF-siRNA (psi-HI(TM)/EGFP/VEGF siRNA) and Lipofectamine(TM) 2000 for 24, 48, and 72 hours, respectively. Expression of VEGF mRNA was evaluated by real time polymerase chain reaction (PCR) and the level of VEGF protein was analyzed by Western blotting. In vivo, OIR model mice were established, the mice (C57BL/6J) received an intra-vitreal injection of 1 µl of mixture of psi-HI(TM)/EGFP/VEGF siRNA and Lipofectamine 2000. Expressions of retinal VEGF and PEDF protein were measured by Western blotting, retinal neovascularization was observed by fluorescein angiography, and quantified. RESULTS: In vitro psi-HI(TM)/EGFP/VEGF siRNA treatment significantly reduced VEGF mRNA and protein expression. In vivo, with decreased VEGF and VEGF-PEDF ratio, significant attenuation of neovascular tufts, avascular regions, tortuous, and dilated blood vessels were observed in the interfered animals. CONCLUSIONS: VEGF plays an important role in OIR, and the transfection of VEGF-siRNA can effectively downregulate VEGF expression in vivo, accompanied by the downregulation of VEGF-PEDF ratio, and simultaneous attenuation of retinal neovascularization was also observed. These findings suggest that VEGF/PEDF may serve as a potential target in the treatment of retinal neovascularization and RNA interference targeting VEGF expression, which represents a possible therapeutic strategy.

[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].

OBJECTIVE: To identify the pathogenic mutation in a four-generation Chinese family with autosomal dominant retinitis pigmentosa (ADRP) and to analyze its associated clinical phenotypes. METHODS: Twelve participants from the index family were recruited, including 5 patients, 6 asymptomatic siblings, and one spouse. All participants underwent ophthalmic examinations, including best-corrected visual acuity (BCVA), visual field (VF) testing, fundus photography, and full-field flash electroretinography (ERG). Targeted sequence capture array technique with next-generation of high throughput sequencing(NGS) was performed to detect variants in 189 hereditary retinal disease (HRD) related genes, comprising 179 identified HRD-causing genes and 10 potential causative genes which were involved in pre-messenger RNA(pre-mRNA) splicing. Variants detected by targeted sequencing were filtered by bioinformatic analyses, validated by Sanger sequencing and intra-familiar analysis.Genotype-phenotype correlation was also analyzed. RESULTS: SNRNP200 p.S1087L was identified as the disease causative mutation for this family by targeted sequencing and optimized bioinformatic analyses. This family demonstrated early onset of the disease by presenting nyctalopia among 6 to 8 years old, performed rapid disease progression and severely impaired visual function by displaying loss of VF among 14 to 17 years old and decreased central vision among 21 to 28 years old. The fundus presentations and ERG results showed typical RP presentations. CONCLUSIONS: SNRNP200 p.S1087L is identified as a hotspot mutation but correlates with distinct phenotypes in the present family, including early onset of the disease, rapid disease progression, and severely impaired visual function. This study also give evidence to that molecular diagnostic platform for HRD can improve the detection rate of causative genes/mutations in HRD patients, thus providing important approaches for further investigation of the genetic causes for HRD.

[Effects of bone marrow mesenchymal stem cell transplantation on retinal cell apoptosis in premature rats with retinopathy].

OBJECTIVE: To explore the effects of marrow mesenchymal stem cell (BMSC) transplantation on retinal cells apoptosis and changes to neurotrophin-3 (NT-3 and ciliary neurotrophic factor (CNTF) in rats with retinopathy of prematurity (ROP). METHODS: Seven-day-old Sprague-Dawley rats were randomly divided into normal control (CON), ROP, BMSC transplantation (BMSCs were transplanted 5 days after oxygen conditioning) and phosphate buffered saline (PBS) groups. The ROP model was prepared according to the classic hyperoxygen method. Seven days after transplantation, TUNEL/DAPI, NT-3/API and CNTF/DAPI double-labeled immunofluorescence were used to examine the effects of BMSC transplantation on both the apoptosis of retinal cells and the expression of NT-3 and CNTF protein in the retinal cells of the ROP rats. RESULTS: Seven days after BMSC transplantation, there were few TUNEL+ DAPI+ cells observed in the CON group. There were fewer TUNEL+DAPI+ cells observed in the BMSC group than in the ROP group (P<0.01), but there was no significant difference between the ROP and PBS groups (P>0.05). There were few NT-3+DAPI+ cells and CNTF+DAPI+ cells in the CON group. There were more NT-3+DAPI+ and CNTF+DAPI+ cells in the ROP group than in the CON group, but there was no significant difference between the ROP and CON groups (P>0.05). More NT-3+DAPI+ and CNTF+DAPI+ cells were observed in the BMSC group compared with the ROP group (P<0.01), and there was no significant difference in either NT-3+DAPI+ or CNTF+DAPI+ cells between the ROP and PBS groups (P>0.05). CONCLUSIONS: BMSC transplantation therapy could alleviate the apoptosis of retinal cells in ROP rats, and its mechanisms might be associated with promoting the expression of NT-3 and CNTF protein in retinal cells.

[Clinical treatment for perforating injuries with foreign bodies located at posterior global wall].

OBJECTIVE: To describe the clinical features and surgical outcomes in a series of patients with perforating injuries and foreign bodies located at the exit wound in posterior global wall. METHODS: Retrospective case series of 17 eyes of 17 patients were included in the study, each patient who received treatments between January 2006 and December 2010 had perforating injuries with foreign bodies located at posterior global wall. The exit wounds of perforating injuries were in the area of optic disc and macula in 8 eyes. Seventeen eyes had vitreous hemorrhage, 11 eyes had traumatic cataract, 8 eyes had retinal detachment and one eye had endophthalmitis. According to different therapeutic regimen, cases were divided into two groups. Group A (7 cases) underwent vitrectomy combined with extraction of foreign body as an emergency operation. Group B (10 cases) underwent extraction of foreign body as an emergency operation and secondary vitrectomy were performed 1 - 2 weeks later. The mean follow-up time was 18 months (ranged from 9 - 47 months). The functional and anatomical results were compared between Group A and B. Fisher's exact test were used to analyze the data. RESULTS: The foreign bodies were extracted in 17 cases. Poor final best corrected visual acuity (BCVA) (worse than or equal to 0.1) was presented in all 8 cases with the exit wound being in the area of optic disc and macula, but only in 4 of 9 cases with the exit wound located in other sites, the difference between these two groups was statistically significant (P = 0.029). At final follow-up, vision was improved in 5 cases from Group A and 7 cases from Group B (P = 1.000); BCVA were better than or equal to 0.1 in 4 cases from Group A and 3 cases from Group B (P = 0.350) the differences were statistically nonsignificant. Intraoperative leakage at the exit wound occurred in 4 cases from Group A and one from Group B, the difference was statistically significant (P = 0.015). Intraoperative retinal detachment and postoperative silicone oil leakage occurred in 2 cases from Group A and none from Group B (P = 0.154). Postoperative retinal detachment occurred in 1 case from Group A and 3 cases from Group B (P = 0.603). Silicone oil-dependent eye occurred in 1 case from Group A and 2 cases from Group B (P = 1.000); the differences were statistically nonsignificant. CONCLUSIONS: The visual prognosis is worse in cases with the exit wound being in the area of optic disc and macula. Both therapeutic regimens were effective, but each has their pros and cons. Appropriate therapeutic regimen should be selected in term of situations. To avoid leakage at the exit wound in vitrectomy, we recommend therapeutic regimen B be selected first.

[Gene mapping and analysis of candidate genes in a Chinese family with autosomal dominant congenital coralliform cataract].

OBJECTIVE: To map and to identify the causal gene of autosomal dominant congenital coralliform cataract (ADCC) in a Chinese family. METHODS: Case series study. Clinical features of all affected members in this family were examined. Blood samples were collected from nine family members for genetic linkage analysis. Polymorphic microsatellite markers were selected from the regions which harbor all known loci linked with ADCC. Direct genomic sequencing was used to evaluate the candidate gene. RESULTS: The affected members in this family showed classic phenotype of ADCC. The maximum two-point LOD score of 1.51 was obtained for marker D2S325 (θ = 0). The LOD score of 1.20 was obtained for marker D11S925. The CRYGC/CRYGD gene located on 2q33-q35 and the CRYAB gene located on 11q22-q22.3. Therefore, the CRYGC/CRYGD and CRYAB gene may be the candidate gene in this family. Sequencing of the coding regions of the CRYGD gene showed the presence of a heterozygous C→A transversion at nucleotide 70 in exon 2 of CRYGD that is associated with cataracts in this family. This mutation resulted in a proline to threonine substitution at amino acid 23 of the protein in the first of the four Greek key motifs that characterized this protein. No mutation in all exons of CRYGC and CRYAB gene were found in the family. CONCLUSION: Direct DNA sequence analysis revealed a C-to-A transition at nucleotide 70 of the CRYGD gene in this ADCC family.

[Recurrent N1173K mutation in FBN1 gene in a Chinese family with ectopia lentis].

OBJECTIVE: To study the disease-causing gene mutation in a Chinese family with ectopia lentis. METHODS: The phenotype of each family member in a Chinese family with ectopia lentis was identified by detailed clinical examination. The inheritance mode in this family was ascertained by the pedigree analysis. Linkage analysis was performed by microsatellite markers on chromosome 15 and LOD Score was calculated by Mlink program. Gene mutations were detected by sequence analysis to the whole coding region and exon-intron boundaries of the candidate gene. RESULTS: A significant LOD score of 3.01 was obtained at D15S978 on chromosome 15q21.1, where FBN1 gene was located. A C3519G change in exon 29 of FBN1 gene, resulting in asparagine change to lysine at codon 1173, was detected by direct sequence analysis. This mutation was absent in the normal family members and 100 normal controls. CONCLUSIONS: Our results indicate that c.C3519G (p.N1173K) mutation in FBN1 gene is the underlying molecular pathogenesis of this family with ectopia lentis.

[Recession of both horizontal rectus muscles in Duane Retraction Syndrome with significant globe retraction].

OBJECTIVE: To evaluate the effect of Recession of both horizontal rectus muscles in Duane Retraction Syndrome with significant globe retraction. METHODS: Sixteen cases with DRS were summarized retrospectively. All patients had undergone surgery with recession of both horizontal rectus muscles. All clinical records, including sex, age, types of DRS, clinical features, surgical methods and clinical outcomes were analyzed. All patients were followed up for 3 months to 1 year. RESULTS: Fifteen cases had only monocular involvement while one had both eyes. The number of type I DRS was 3 cases, 1 case was esotropia while others were orthotropic in primary position. Type III DRS was observed 13 cases. Esotropia was seen in 6 cases (7 eyes), exotropia of 1 cases and orthotropic in primary position of 6 cases. 10 cases exhibited marked face turn. An upshoot or downshoot and variable severity of retraction of globe were found in all patients on attempt adduction of the affected eye. All patients had undergone surgery with recession of both horizontal rectus muscles. The medical rectus muscles were recessed from 5 mm to 7 mm and lateral rectus muscles 3 mm to 9 mm simultaneously, which was based on the amount of primary position deviation. Among these 2 cases were combined with Y-splitting of lateral rectus muscle. After surgery, all patients were orthotropic in primary position. Their symptom of unacceptable abnormal head position, significant globe retraction, noticeable narrowing of the palpebral fissure and significant upshoot or downshoot were ameliorated or disappeared. Especially the recession of lateral rectus muscle in addition to Y-splitting combining with the simultaneous medial rectus recession resulted in further amelioration of globe retraction in addition to upshoot and downshoot. CONCLUSION: Recession of both horizontal rectus muscles is effective in the treatment of significant globe retraction in Duane syndrome. Type III DRS with significant globe retraction but has no marked deviation and face turn can adopt this method to ameliorate their aspect. The method of lateral rectus muscle in addition to Y-splitting plays an important role in the treatment of upshoot and downshoot.

[Comparison between photographic analysis and orthopedic goniometer of measurement of compensatory head posture].

OBJECTIVE: To evaluate the application of relative reference point photographic analysis method and goniometer method for head posture measurement, and compare the characteristics of the two methods. METHODS: Thirty patients from March 2011 to April 2011 and August to September with AHP in our hospital were recruited. The AHP were measured by photographic analysis and goniometer method respectively. The data were analyzed by SPSS software. RESULTS: The mean AHP was 15.62° ± 7.48° by photographic analysis measurement, 15.50° ± 6.99° by goniometer measurement. The Pearson's correlation coefficient (r = 0.955, P < 0.001, t = 0.286, P = 0.777). CONCLUSIONS: Relative reference point photographic analysis is a simple and effective way to measure AHP. The results measured by the two methods are highly consistent.

[The variation characters of EPSC-IPSC in rat visual cortex II/III pyramidal neurons during critical period of visual development].

OBJECTIVE: To observe the characters of EPSC-IPSC induced by paired-pulse stimulation of rat visual cortex layer II/III pyramidal neurons during critical period of visual development, and discuss their relationships, to discuss the role of short-term synaptic plasticity in the critical period of visual development of rats. METHODS: Thirty Wistar rats were used, they were divided into P10-P12, P14-P16, P21-P23, P28-P30, P35-P37 five groups, n = 6. Whole-cell voltage clamp recording was performed, the membrane potential was clamped on -50 mV, 0 mV respectively to separate EPSC and IPSC. We set the PPR as the observation indicator, analyzed the developmental features of EPSC and IPSC induced by paired-pulse stimulation of different groups. RESULTS: The PPR of layer II/III pyramidal neurons in group P10-P12, P14-P16, P21-P23, P28-P30, P35-P37 was 0.43 ± 0.08, 0.07 ± 0.08, 0.10 ± 0.10, 0.20 ± 0.07, 0.22 ± 0.12 respectively. The PPR of group P14-P16 decreased, the difference was statistically significant compared with the group before eyes open (t = -3.13, P = 0.04). The PPR of corresponding groups was 0.6036 ± 0.3021, 0.2830 ± 0.0504, 0.0287 ± 0.0907, -0.0449 ± 0.1443, -0.3089 ± 0.05553 respectively (F = 5.0799, P = 0.0037), the PPR of IPSC gradually reduced with age, and turned negative from the P28-P30 group, changed from PPF to PPD. CONCLUSIONS: The PPR of EPSC response to visual stimuli rapidly, but did not change significantly in the critical period of visual development (P19-P32). The short-term depression of IPSC increased gradually from the eyes open to the end of the critical period of visual development, which may play a more important role in the process of layer II/III pyramidal neurons maturation and the critical period of visual development ending.

Fixational saccadic eye movements are altered in anisometropic amblyopia.

PURPOSE: Amblyopia develops during a critical period in early visual development and is characterized by reduced visual sensory functions and structural reorganization of the brain. However, little is known about oculomotor functions in amblyopes despite the special role of eye movements in visual perception, task execution and fixation. Therefore, we studied the relationship of visual deficits in anisometropic amblyopia and fixational saccadic eye movements. METHODS: We recruited twenty-eight anisometropic amblyopes and twenty-eight age-matched control subjects. Using a high-speed eye-tracker, fixational eye-movements of both eyes were recorded. A computerized fixational saccadic component analysis of eye-movement waveforms was developed to quantify the parameters of fixational saccades (FSs) and a simulation model was developed to help explain the FS performances. RESULTS: Amblyopic eyes, but not control eyes, showed fewer FSs, but these had increased amplitudes, increased peak velocities, and longer inter-saccadic intervals. The reduced FSs occurred mainly in the 0- to 0.6-degree amplitude range, and the probability of FSs with larger amplitudes and longer inter-saccadic intervals was significantly higher than in controls. A new simulation model analysis suggests that an excitatory-inhibitory activity imbalance in superior colliculus may explain these FSs changes. CONCLUSIONS: We propose that the abnormal visual processing and circuitry reorganization in anisometropic amblyopia has an impact on the fixational saccade generation. We see two possible interpretations: (i) altered FSs may be an attempt of the visual system to adapt to the deficit, trying to capture more information from a broader spatial domain of the visual world so as to enhance the contrast sensitivity to low spatial frequencies viewed by the amblyopic eye, or (ii) it may be the cause of amblyopia or a contributing factor to the original deficit that aggravates the early deprivation.

Vertical deviation and A pattern of type III Duane retraction syndrome.

BACKGROUND: Researches in ocular electromyography (EMG) and Magnetic resonance imaging (MRI) of patients with Duane retraction syndrome (DRS) suggest that there may be additional abnormalities such as paradoxical innervation between horizontal rectus muscles and vertical rectus muscles, hypoplasia of vertical rectus muscle and that oblique muscles may also contribute to the heterogeneity of the clinical manifestation of DRS. This paper reports the results of superior rectus recession for vertical deviation and A pattern in DRS Type III and discusses the pathogenesis of the disease. METHODS: Superior and lateral rectus recession were performed in 5 cases of Huber type III DRS to treat vertical deviation and A pattern strabismus. Before operation, MRI of the brain, brainstem, cavernous sinus, and orbits were performed. RESULTS: All subjects had unilateral limitation of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Three cases had A pattern of strabismus, three cases had hypertropia. The abducens nerves (CN6) were either absent or hypoplasitic in the brainstem in all patients. Two eyes had larger oculomotor foramen. Two eyes had hypoplasia of the superior rectus and the inferior rectus. There was presumably a branch of the third cranial nerve (CN3) innervating the lateral rectus (LR) in one eye. While in another eye, two branches of CN3 sent into medial rectus were revealed. After surgery, vertical deviation in the primary position was reduced in all patients and A pattern was eliminated in 3 patients. One patient developed 10Δ consecutive esotropia postoperatively. CONCLUSION: The results suggest that structural abnormalities of vertical muscle and abnormal orbital innervation may be related to vertical deviation and the presence of A pattern in DRS type III. Recession of the superior rectus muscle seems to be a safe and effective treatment for vertical deviation and A pattern strabismus in DRS Type III.

[Study on the structure and function of superior oblique connective tissue in different mammals].

OBJECTIVE: The purpose of this research lied in studying the structure and function of connective tissue of superior oblique (SO) in rhesus and rabbit. METHODS: It was an experimental study. Two adult monkeys (rhesus) and five adult rabbits were involved in this study. The gross anatomy of an orbit in each animal was observed. Meanwhile, the fellow orbit was processed with paraffin imbedding and coronal serial section. Masson trichrome stain was used to distinguish muscle and collagen, and Weigert stain was performed for identification of elastin. RESULTS: Connective tissue around SO in both mammals thickened anteriorly, reflected in the trochlea along with the SO tendon, and became contiguous with the nasal aspect of the SR connective tissue ring, while the tendon passed inferior to the SR pulley to insert on the sclera. CONCLUSION: The contraction of SO OL can cause SR shift nasally. This may explain the mechanism of vestibulo-ocular reflex (VOR) partly.

[Study on the structure and function of inferior oblique connective tissue in different mammals].

OBJECTIVE: The purpose of this research lied in studying the structure and function of connective tissue of inferior oblique (IO) in rhesus, rabbit and rat. METHODS: It was an experimental study. Two adult monkeys (rhesus), five adult rabbits and five adult Wistar rats were involved in this study. The gross anatomy of an orbit in each animal was observed. Meanwhile, the fellow orbit was processed with paraffin imbedding and coronal serial section. Masson trichrome stain was used to distinguish muscle and collagen, and Weigert stain was performed for identification of elastin. RESULTS: The connective tissue around IO muscle in rhesus, rabbits and rats all connected with inferior rectus (IR) and lateral rectus (LR), but the arrangements among them were not entirely similar. Only the connective tissue around IO in rhesus consisted of dense collagen, scattered elastic fiber, and connected closely with IR, LR Pulley. The connective tissue circling IO in rabbit and rat were crumbly, and was not connected closely with the connective tissue around IR. CONCLUSION: IR and LR Pulley has some mechanics link with IO in rhesus, and can play roles in covergence in rhesus.

[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].

OBJECTIVE: Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent. Genomic DNA was isolated from 5 ml peripheral blood samples according to the standard methods. Direct sequencing was performed after PCR amplification to genomic DNA for detection of KIF21A gene mutation. RESULTS: We identified heterozygous KIF21A mutations in 14 of sixteen patients. Twelve of them harbor the most common mutation, c.2860C > T (p.R954W) and two of them harbor the second most common mutation, c2861G > A(p.R954Q). The R954 mutations account for 87.5% (14/16), in which 75% (12/16) are R954W, 12.5% (2/16) are R954Q. CONCLUSION: The R954 mutations are also hotspots in Chinese patients with CFEOM.

Magnetic resonance imaging of unilateral vertical retraction syndrome with atypical strabismus.

We report two patients with unilateral vertical retraction syndrome. Magnetic resonance imaging (MRI) of the orbits of the two cases showed similar size and location of the orbital structure, but with dramatically different strabismus type. MRI sagittal reconstruction of the orbits suggested that abnormal muscle tissue arised from the inferior rectus, which might be associated with retraction and narrowing of the palpebral fissure and atypical strabismus as well.