A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been identified within ARS patients, accounting for 40 to 70% of cases. Our purpose is to describe clinical and genetic findings in a Chinese family with ARS. METHODS: An ARS family with three affected members was recruited. The patients underwent a series of complete ophthalmologic examinations, general physical examination and dental radiography. DNA samples of proband II-1 were used for targeted exome sequencing of the FOXC1 and PITX2 genes. Sanger sequencing was used to validate the variation in PITX2. Quantitative real-time PCR was carried out to detect the expression of PITX2 in patients and normal controls. RESULTS: All affected members showed iris atrophy, corectopia, shallow anterior chamber, complete or partial angle closure, and advanced glaucoma. In addition, they revealed systemic anomalies, including microdontia, hypodontia, and redundant periumbilical skin. A novel heterozygous frameshift variation, c.515delA, in PITX2 was found in the proband, which might lead to a truncated PITX2 protein (p.Gln172ArgfsX36). Sanger sequencing validated that the variation completely cosegregated with the ARS phenotype among this family, but was absent in 100 unrelated controls. Quantitative real-time PCR analysis revealed that the mRNA expression of PITX2 was significantly decreased in patients compared with that in unrelated normal controls. CONCLUSIONS: PITX2 c.515delA (p.Gln172ArgfsX36) was the genetic etiology of our pedigree. The mutation led to decreased PITX2 gene expression and a truncated mRNA transcript.

Optic Disc Features in Highly Myopic Eyes: The ZOC-BHVI High Myopia Cohort Study.

SIGNIFICANCE: Some studies reported that optic disc tilt and rotation might be risk factors for the susceptibility of high myopic eyes to develop glaucoma. However, data regarding optic disc manifestations in high myopia participants are few. It is crucial to characterize the features of optic disc manifestations among high myopes. PURPOSE: To describe optic disc characteristics of Chinese highly myopic eyes and to investigate associated factors. METHODS: This cross-sectional, observational study included 890 Chinese with bilateral high myopia (defined as ≤-6.00 diopters spherical power) in 2012. All subjects underwent cycloplegic autorefraction, ocular biometry, and fundus photography. The optic disc tilt ratio, degree of rotation, and ß-zone peripapillary atrophy area were measured from the 45°optic disc-centered fundus photographs. Optic disc tilt was defined as optic disc tilt ratio, the ratio of maximum to minimum diameter of optic disc, exceeding 1.3. The definition of optic disc rotation was using optic disc rotation degree, the angle from long diameter and the vertical meridian, of >15°. RESULTS: Among 890 participants, 2 were excluded by ungradable optic disc-centered fundus photographs. In the 888 studied right eyes, the mean spherical power was -9.36 ± 3.46 diopters with a mean axial length of 27.51 ± 1.63 mm. The proportion of optic disc tilting, rotation, and ß-zone peripapillary atrophy were 81.2%, 48.3%, and 92.8%, respectively. The mean ratio of optic disc tilting and rotation degree was 1.78 ± 0.53 and 21.08 ± 19.91°; the mean area of ß-zone peripapillary atrophy/optic disc head was 1.11 ± 1.22. A multiple linear regression showed that older age (P < .001), female (P = .02), and more myopic spherical equivalent (P = .005) were related to the greater optic disc tilting ratio. CONCLUSIONS: Beta-zone peripapillary atrophy, optic disc tilting, and rotation are very common in highly myopic eyes in Chinese population. Older age, female, and more myopic spherical equivalent are risk factors of higher degree of optic disc tilting.

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.

BACKGROUND: Ocular signs of Fabry disease can be seen in the first decade of life. METHODS: We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). RESULTS: At least one ocular sign was found in 55/101 (54.5%) girls and 62/131 (47.3%) boys: cornea verticillata in 53/101 (52.5%) girls and 55/131 (42.0%) boys, vessel tortuosity in 17/98 (17.3%) girls and 32/131 (24.4%) boys, and posterior spoke-like lens opacities in 3/97 (3.1%) girls and 2/130 (1.5%) boys. Summary statistics showed higher median (range) age-adjusted FOS-MSSI total score indicating more severe disease in children with eye findings versus those without eye findings (0.5 [-11.0, 20.7] versus -2.3 [-11.1, 18.8]). At least one eye finding was observed in 59.1% of treated and 37.9% of untreated children. CONCLUSIONS: We conclude that the presence of ocular signs, particularly cornea verticillata, correlates with more severe disease as indicated by FOS-MSSI scores in paediatric patients with Fabry disease. Ocular signs appear in roughly half of school-aged children with Fabry disease and are well-recognised as a valuable tool for diagnosis of Fabry disease in children; they also may help identify patients who are at risk for developing early severe manifestations of Fabry disease and who should be further evaluated and closely followed up.

Frequency of prepapillary vascular loops in Congolese patients.

PURPOSE: To determine the frequency of prepapillary vascular loops in the population of Congolese patients. METHODS: We performed a retrospective cross-sectional and descriptive analysis of the data collected between January 2005 and August 2014 from patients diagnosed with prepapillary vascular loops, in an outpatient eye clinic, a general ophthalmology practice. RESULTS: Out of 16,016 patients seen during the study period, 24 patients (27 eyes) were diagnosed with prepapillary vascular loops, for a frequency of 0.15%. The mean age of the patients with prepapillary vascular loops was 37.8 years±14 (SD) (range, 18 to 60 years). Male were more frequently diagnosed with prepapillary vascular loops than female (62.5% vs 37.5%). Unilateral prepapillary vascular loops were found in 77.8% and bilateral in 22.2% of eyes. Most of PPLs were estimated to be arterial (88.9% of eyes) based on clinical observation alone, as fluorescein angiography was not systematically performed. Ophthalmoscopically, the vessels appeared as simple (44.6%) or took more serial turns (corkscew or spiral-shaped) (55.6%). The average length of PPLs was 1.02mm (range 0.6 to 1.5mm) with an orientation (an axis orientation) in the superior nasal sector (50%), inferior nasal sector (33%) and superior temporal sector (17%); and a mean axis of 143° relative to the horizontal. Refractive errors were found in 16 eyes (59.3%) and included simple myopia (4 eyes, 14.8%), myopic astigmatism (8 eyes, 29.6%), hyperopic astigmatism (one eye, 3.7%), hyperopia (3 eyes, 11.1%); One patient (one eye, 3.7%) with high hyperopia had anisometropia. Primary open angle glaucoma was found in 5 (18.5%) eyes; vascular tortuosity was seen in two (7.4%) eyes. No complication such as retinal arterial occlusion, vitreous hemorrhage, or any other complication was found. CONCLUSION: The frequency of 0.15% found in this study suggests that although rare, prepapillary vascular loops seem to be a bit more common in black people than in white and Asian people. An association between PPLs and refractive errors may be possible.

Optic Disc Ovality in Primary School Children in Beijing.

PURPOSE: The purpose of this study was to assess the ovality of the optic disc and its associations with myopia-related factors in primary school children in Beijing. METHODS: This longitudinal school-based study included 382 grade 1 children and 299 grade 4 children who were followed for 2 years. Study participants underwent a comprehensive eye examination including autorefractometry, ocular biometry, and fundus photography. RESULTS: Fundus photographs were available for 562 children (82.5%). The mean optic disc ovality (maximal-to-minimal disc diameter) was 1.17 ± 0.29 (range, 1.00-1.50). Oval discs defined by an ovality of ≥ 1.33 were detected in 37 children (prevalence: 6.6%; 95% confidence interval: 4.5-8.6). In multivariate linear regression analysis, higher optic disc ovality index was significantly associated with older age (P = 0.001), female sex (P = 0.005), larger parapapillary beta zone (P < 0.001), and shorter time spent indoors with studying (P = 0.003) and was marginally significant (P = 0.057), with greater increase in myopic refractive error from 2011 to 2013. From 2011 to 2013, myopic refractive error increased in the oval optic disc group by 1.03 ± 0.99 diopters compared to 0.67 ± 1.31 diopters in the nonoval disc group. CONCLUSIONS: The prevalence of oval optic discs in Beijing school children was markedly higher than in the elderly Beijing Eye Study population (6.6% vs. 0.36%), paralleling the higher prevalence of myopia in school children. The association between oval optic discs and less time spent indoors with studying after adjusting for longitudinal change in myopic refractive error, age, sex and parapapillary beta zone may warrant further exploration of external factors associated with oval optic discs.

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

Joubert syndrome (JS) and related disorders (JSRD), Meckel syndrome (MKS) and Bardet-Biedl syndrome (BBS) are autosomal recessive ciliopathies with a broad clinical and genetic overlap. In our multiethnic cohort of 88 MKS, 61 JS/JSRD and 66 BBS families we performed genetic analyses and were able to determine mutation frequencies and detection rates for the most frequently mutated MKS genes. On the basis of determined mutation frequencies, a next generation gene panel for JS/JSRD and MKS was established. Furthermore 35 patients from 26 unrelated consanguineous families were investigated by SNP array-based homozygosity mapping and subsequent DNA sequencing of known candidate genes according to runs of homozygosity size in descending order. This led to the identification of the causative homozygous mutation in 62% of unrelated index cases. Based on our data we discuss various strategies for diagnostic mutation detection in the syndromic ciliopathies JS/JSRD, MKS and BBS.

Molecular characterization of Joubert syndrome in Saudi Arabia.

Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this condition is significant with 16 genes identified to date. We have used a combination of autozygome-guided candidate gene mutation analysis and exome sequencing to identify the causative mutation in a series of 12 families. The autozygome approach identified mutations in RPGRIP1L, AHI1, TMEM237, and CEP290, while exome sequencing revealed families with truncating mutations in TCTN1 and C5ORF42. Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease.

Acquired lower eyelid epiblepharon in thyroid-associated ophthalmopathy of Koreans.

PURPOSE: To investigate the prevalence and clinical features of acquired lower eyelid epiblepharon in Korean patients with thyroid-associated ophthalmopathy (TAO) and compare the pathogenic features of acquired and congenital epiblepharon. DESIGN: Retrospective, nonrandomized, comparative case series, cross-sectional study. PARTICIPANTS: A total of 494 Korean patients with TAO and 845 Korean patients with congenital lower eyelid epiblepharon. METHODS: The medical records were reviewed, and the presence, location, and extent of epiblepharon were identified. Clinical features of TAO (lower eyelid retraction, exophthalmos, and elevation limitation) were compared between patients with TAO with and without epiblepharon. Acquired epiblepharon was classified into 3 types according to the location and extent. The prevalence of epiblepharon types was determined and evaluated for associations with TAO clinical features. Comparisons were made between the prevalence of epiblepharon types in acquired and congenital epiblepharon. MAIN OUTCOME MEASURES: Prevalence, location, and extent of epiblepharon; association with clinical features of TAO; and difference from congenital epiblepharon. RESULTS: An acquired lower eyelid epiblepharon was found in 42 (8.5%) of 494 patients with TAO. The mean age of patients with TAO with epiblepharon (34.2±13.5 years) was significantly lower than that of patients with TAO without epiblepharon (46.5±14.1 years) (P = 0.000). Lower eyelid retraction (0.78±1.11 mm) was more severe in patients with TAO with epiblepharon than in patients without epiblepharon (0.30±0.73 mm) (P = 0.000). Lower eyelid retraction was more severe in diffuse-type acquired epiblepharon than in central-type epiblepharon (P = 0.012). Elevation limitation was more severe in central-type acquired epiblepharon than in medial-type epiblepharon (P = 0.001). The occurrence of central-type epiblepharon was higher in TAO-associated acquired epiblepharon (20 eyelids, 30.8%) than in congenital epiblepharon (27 eyelids, 1.9%, P = 0.000). CONCLUSIONS: Acquired lower eyelid epiblepharon is one of the clinical features of patients with TAO. The association between lower eyelid retraction and acquired epiblepharon may lead to a better understanding of the cause of acquired epiblepharon in patients with TAO.

Fat repositioning via supraperiosteal dissection with internal fixation for tear trough deformity in an Asian population.

BACKGROUND: To investigate the efficacy and complications of fat repositioning via supraperiosteal dissection with internal fat-flap fixation for tear trough deformity in an Asian population. METHODS: This study is a retrospective chart review. From June 2005 to May 2010, 212 patients with lower eyelid fat prolapse and tear trough deformity underwent fat repositioning via supraperiosteal dissection with internal fat-flap fixation. Postoperative complications were recorded, and the degree of outcome satisfaction was obtained at the 6-month postoperative follow-up. RESULTS: In total, 142 patients underwent transconjunctival fat repositioning, and 70 received the transcutaneous approach for redundant lower lid skin and tear trough deformity. The level of satisfaction 6 months after the operation was high: 152 patients rated their experience as very satisfied (71.7%), 54 as satisfied (25.5%) and six as acceptable (2.8%). None reported being dissatisfied or unhappy. No diplopia or evidence of granuloma formation in the lower eyelid or check area was noted. Four patients who suffered from significant ecchymosis and conjunctival chemosis with corneal exposure were managed with lubricants and resolved spontaneously. Three patients who underwent the transcutaneous approach and excess skin excision had the complication of lower lid ectropion; they received lateral tarsal strip procedures with good results. Three patients required revision to remove the residual lateral fat pad because of inadequate lateral orbital fat excision during the initial procedure. CONCLUSIONS: Fat repositioning via supraperiosteal dissection with internal fat-flap fixation is a safe and effective method to create a youthful midface appearance for Asians with tear trough deformity.

Myopia-related optic disc and retinal changes in adolescent children from singapore.

PURPOSE: To examine early myopia-related optic disc and retinal changes in a Singapore Chinese adolescent sample without confounding ocular or systemic disease. DESIGN: Population-based cross-sectional study. PARTICIPANTS: Children aged 12 to 16 years at a follow-up visit for Singapore Cohort Study of Risk Factors for Myopia. METHODS: Detailed eye examinations, including cycloplegic autorefraction and contact biometry, were performed. Retinal photographs were acquired using nonmydriatic retinal photography among children who attended follow-up examinations in 2006, and were graded for myopia-related optic disc signs and macular changes by a single experienced grader. Optic nerve head parameters were measured adjusting for camera and ocular magnification with appropriate formulae. MAIN OUTCOME MEASURES: Optic disc changes (tilt, beta peripapillary atrophy [ß-PPA], and optic nerve parameters) and macular changes (staphyloma, lacquer cracks, Fuchs' spot, and chorioretinal atrophy). RESULTS: Retinal photography data were available for 1227 children (median age, 14 years; range 12-16). Tilted optic discs were found in 454 subjects (37%), and were associated with myopic spherical equivalent refractions (-3.6 diopters [D] vs -1.3 D; P<0.0001), higher cylindrical error (0.9 vs 0.7 D; P = 0.0001) and longer axial length (24.93 vs 23.96 mm; P<0.0001). The pattern of distribution of the axes of the tilted discs and corneal curvature were similar (P = 0.4). All linear optic nerve parameters, except vertical disc diameter (P = 0.15), were significantly smaller in eyes with than without tilted discs (P <0.001) after adjusting for confounders. Apart from 20 cases, all eyes with tilted optic discs had associated ß-PPA. We identified only 1 case each (0.1% prevalence) of staphyloma and lacquer cracks in this sample. CONCLUSIONS: In this Asian adolescent population, tilted optic discs were highly prevalent, in contrast with the lower prevalence reported in Caucasian populations. Eyes with tilted discs tended to have smaller optic cups with smaller cup-to-disc ratios, and were associated with myopic refraction, higher astigmatism, and longer axial length. There were similar patterns of distribution between the axis of disc tilt and the axis of corneal curvature, which could have embryologic origins. In contrast with optic disc changes, myopic macular changes were rare in this age group, suggesting that these changes may develop later in life. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

BACKGROUND: Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2). METHODS: Following this study, we have collected the samples of 30 additional GD families, including 33 patients and identified ADAMTSL2 mutations in 14/33 patients, comprising 13 novel mutations. The absence of mutation in 19 patients prompted us to compare the two groups of GD patients, namely group 1, patients with ADAMTSL2 mutations (n=20, also including the 6 patients from our previous study), and group 2, patients without ADAMTSL2 mutations (n=19). RESULTS: The main discriminating features were facial dysmorphism and tip-toe walking, which were almost constantly observed in group 1. No differences were found concerning heart involvement, skin thickness, recurrent respiratory and ear infections, bronchopulmonary insufficiency, laryngo-tracheal stenosis, deafness, and radiographic features. CONCLUSIONS: It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene.

A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.

PURPOSE: The paired box gene 6 (PAX6) on human chromosome 11p13 is an essential transcription factor for eye formation in animals. Mutations in PAX6 can lead to varieties of autosomal-dominant ocular malformations with aniridia as the major clinical signs. Known genetic alterations causing haplo-insufficiency of PAX6 include nonsense mutations, frame-shift mutations, splicing errors, or genomic deletions. The purpose of this study was to identify genetic defects as the underlying cause of familial aniridia in a large Chinese family. METHODS: All exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. The genome of the proband was evaluated by a microarray-based comparative genomic hybridization (aCGH). Quantitative real-time PCR was applied to verify the abnormal aCGH findings in the proband and to test five other family members. RESULTS: There were no detectable pathogenic mutations in the exons of PAX6 in the proband. The aCGH analysis showed two copies of PAX6 but revealed a 566 kb hemizygous deletion of chromosome 11p13, including four annotated genes doublecortin domain containing 1 (DCDC1), DnaJ homolog subfamily C member 24 (DNAJC24), IMP1 inner mitochondrial membrane(IMMP1L), andelongation factor protein 4 (ELP4) downstream of PAX6. Quantitative real-time PCR verified the deletion in the proband and further identified the deletion in a blind fashion in four affected family members but not in the one with a normal phenotype. CONCLUSIONS: The 566 kb hemizygous deletion of chromosome 11p13 downstream of PAX6 should be the cause of the familial aniridia in this Chinese family, although two copies of PAX6 are intact. aCGH evaluation should be applied if there is a negative result for the mutation detection of PAX6 in patients with aniridia.

The first Chinese Pierson syndrome with novel mutations in LAMB2.

BACKGROUND: Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes. LAMB2 was the causative gene. METHODS: A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing. RESULTS: Two novel mutations were identified, C757fsX767 and P1413fsX1451, which predicted truncated proteins and were confirmed in the paternal and maternal origins, respectively. CONCLUSIONS: This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations. The phenotype may be different in different ethics.

Epiblepharon in East asian patients: the singapore experience.

PURPOSE: To describe the demographics, presenting symptoms, indications for surgery, and surgical outcomes of epiblepharon correction in a tertiary care hospital in Singapore. DESIGN: Retrospective review of patients who underwent surgery by 2 surgeons in a referral oculoplastic practice at the National University Health System, Singapore, from 2001 to 2007. PARTICIPANTS: A total of 108 patients who underwent surgery for clinically significant epiblepharon. INTERVENTION: Modified Hotz procedure or suture correction for patients in whom conservative treatment failed. MAIN OUTCOME MEASURES: Comparison of symptoms, keratopathy, and recurrence on follow-up between the 2 procedures. RESULTS: The mean age of the patients was 9.0 years, with an age range of 0.5 to 68 years. Of the patients, 51.9% were male. The majority were Chinese (n = 102). Seventy-four (68.5%) patients were symptomatic. Eighty-nine patients (82.4%) had keratopathy. In 98 patients (90.7%) both eyes were affected, and the majority of patients (75.0%) had epiblepharon of the lower lids. Initial treatment for the majority was lubricants (n = 71, 65.7%). The main indications for surgery were symptoms and keratopathy, with 37.9% of patients having both, and 44.4% and 15.7% of patients having either keratopathy or symptoms alone, respectively. Surgical correction consisted mostly of a modified Hotz procedure (n = 88, 81.5%), lid-everting sutures (n = 9, 8.3%), and others, including upper lid blepharoplasty with lid crease formation (n = 11, 10.2%). Outcomes were good, with the majority (n = 88, 81.5%) of lids being well corrected. Complications included undercorrection, overcorrection, wound dehiscence, and wound infections. CONCLUSIONS: Symptomatic epiblepharon, usually associated with keratopathy and commonly seen in children of East Asian descent, often requires surgical intervention with good surgical outcome. Increased awareness among ophthalmologists and pediatricians dealing with this ethnic group and age is emphasized. Contrary to the current practice of expectant observation, definitive surgical management should be considered when symptoms or keratopathy is present. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Plateau iris in Asian subjects with primary angle closure glaucoma.

OBJECTIVE: To determine the prevalence of plateau iris in Asian eyes with primary angle closure glaucoma (PACG) using ultrasound biomicroscopy (UBM). METHODS: In this cross-sectional observational study, subjects older than 40 years with PACG who had a patent laser peripheral iridotomy underwent UBM in 1 eye. Ultrasound biomicroscopy images were qualitatively analyzed using standardized criteria. Plateau iris in a quadrant was defined by anteriorly directed ciliary body, absent ciliary sulcus, steep iris root from its point of insertion followed by a downward angulation, flat iris plane, and irido-angle contact. At least 2 quadrants had to fulfill these UBM criteria for an eye to be classified as having plateau iris. RESULTS: One hundred eleven subjects (70 from Singapore, 41 from Thailand) with PACG were recruited. The mean (SD) age was 65.6 (8.1) years, and 63.9% were female. Based on standardized UBM criteria, plateau iris was found in 36 of 111 eyes (32.4%; 95% confidence interval, 24.4%-41.6%). In these 36 eyes, quadrant-wise analysis showed 66.7% had plateau iris in 2 quadrants; 22.2%, in 3 quadrants; and 11.1%, in all quadrants. CONCLUSIONS: About 30% of PACG eyes with a patent laser peripheral iridotomy were found to have plateau iris on UBM, highlighting the importance of non-pupil block mechanisms in Asian individuals.

Population prevalence of tilted and torted optic discs among an adult Chinese population in Singapore: the Tanjong Pagar Study.

OBJECTIVE: To determine the prevalence of tilted and torted optic discs and associated risk factors among Chinese adults in Singapore. METHODS: As part of a population-based survey, optic disc stereophotographs of both eyes were obtained, and left eyes were analyzed using imaging software. A tilted optic disc was defined as an index of tilt (ratio of minimum to maximum optic disc diameter) less than 0.75. The angle of tilt was defined as the angle between the maximum and vertical optic disc diameter, and optic discs were graded as torted if the angle of tilt exceeded 15 degrees . RESULTS: Twenty-six of 739 subjects (3.5%) had tilted optic discs, and 478 (64.7%) had torted optic discs. Myopia was present in 23 of 26 eyes (88.5% [95% confidence interval, 69.9%-97.6%]) with tilted optic discs and in 211 of 661 eyes (31.9% [28.4%-35.6%]) without tilted optic discs (P < .001). On multivariate analysis, myopia (spherical equivalent) was a significant risk factor for tilted optic discs (P < .001). Index of tilt was not associated with corneal astigmatism or with cylindrical refractive error. Seventeen eyes (65.4%) with tilted optic discs had an optic disc morphologic abnormality, but none were glaucomatous. CONCLUSIONS: The prevalence of tilted optic discs among this Chinese population was 3.5%. Tilted optic discs were associated with myopia but not with glaucoma.

Case report and literature review of inferior rectus muscle aplasia in 16 Japanese patients.

PURPOSE: To describe clinical features of inferior rectus muscle aplasia in Japanese patients and to gain insight into its pathogenesis. METHODS: Case presentation and literature review of 16 Japanese patients with inferior rectus muscle aplasia. RESULTS: The age at presentation of 16 patients (9 females, 4 males, and 3 with unknown gender) varied from 7 months to 73 years (mean, 21.8 years). The inferior rectus muscle was absent on the right side in 10 patients, on the left side in 4 patients, and on both sides in 2 patients. Structural anomalies of the eye globe, such as microphthalmos, microcornea, and coloboma of varying degrees, were present on the ipsilateral side of the inferior rectus muscle aplasia in 4 patients and on the contralateral side in 1 patient. As surgical findings, anomalous inferiorly located insertion of the medial rectus muscle was discovered in 5 patients: 1 patient in association with microcornea and iris coloboma. Frequent surgical procedures were recession or tenotomy of the superior rectus muscle, combined with downward transposition of the entire or partial tendons of the medial rectus and lateral rectus muscle to the medial and lateral end, respectively, of the putative inferior rectus muscle insertion. CONCLUSIONS: The association of coloboma with inferior rectus muscle aplasia suggests that abnormal optic fissure closure during embryogenesis might underlie the muscle aplasia.