Prevalence of Dry Eye in Uyghur and Han Ethnic Groups in Western China

Purpose: To describe and compare the prevalence and characteristics of dry eye among Han and Uyghur persons living in Kashi, the most inland city of China.

Methods: A total of 1015 residents of Kashi participated in this 2013 cross-sectional study. To evaluate clinical characteristics, each subject completed (1) a dry-eye questionnaire detailing symptoms of dry eye, (2) Schirmer’s I-test (SIT), (3) tear-film break-up time (BUT) test, and fluorescein staining of the cornea. Dry eye was defined as the existence of dry eye symptoms and at least two positive clinical signs. Data were analyzed using SPSS software. The prevalence and risk factors of dry eye were evaluated using a multivariate model.

Results: Overall, 282 (27.8%) of the 1015 participants were diagnosed with dry eye (95% confidence interval (CI): range, 25.5–30.1). The prevalence of dry eye among Han persons (37.9 %) (95% CI: range, 35.8–40.0) was higher than that among Uyghurs (21.8%) (95% CI: 19.6–24.0) (p < 0.05). The prevalence of dry eye was 25.6% (95% CI: range, 23.3–27.8) among men and 28.7% (95% CI: 26.5–30.9) among women (p > 0.05). Risk factors for dry eye included ethnicity, age, occupation, arthritis, and dry mouth.

Conclusions: Our study revealed a higher prevalence of dry eye among Han than Uyghur persons in Kashi. Dry eye was significantly associated with environment and ethnicity.     

Unmet Needs and Future Directions in Inflammatory Eye Disease

Purpose: To explore the unmet needs in the management of patients with severe inflammatory eye disease (IED), future directions for research and therapy, and to develop and facilitate access and delivery of better medical care to patients with severe IED.

Methods: The unmet needs and future directions in inflammatory eye disease were identified and discussed by experts in relevant disciplines at a recent international conference.

Results: A total of 14 major unmet needs were identified and discussed by experts in the areas of ophthalmology, rheumatology, infectious disease, and internal medicine, at an international conference. The major areas discussed are summarized in this review.

Conclusions: Identification of unmet needs in IED is seen as a first step in implementing changes in the way we diagnose and treat patients with these sight-threatening IEDs.     

The Local Availability of Eye Care Providers and the Vision Health of Adults in the United States

Purpose: To examine whether the local availabilities of ophthalmologists and optometrists were associated with outcomes related to the prevention and timely treatment of vision conditions.

Methods: Data on adults from the 2008 National Health Interview Survey were linked to county-level information on the numbers of ophthalmologists and optometrists per capita from the Area Health Resources File. Multivariate logistic regression models were estimated for whether individuals likely to perceive themselves as being at lower risk of vision conditions had undergone a dilated eye exam in the previous 2 years, whether individuals with diabetes had a dilated eye exam in the previous year, and whether individuals with an age-related eye disease (ARED) had lost vision due to the condition. The models included measures of local eye care provider availability and additional explanatory variables.

Results: The county-level availabilities of ophthalmologists and optometrists were positively and significantly related to the likelihood that perceived lower-risk individuals had undergone a dilated eye exam in the previous 2 years. Local eye care provider availability was not significantly related to whether individuals with diabetes had a dilated eye exam in the previous year. Greater county-level availability of ophthalmologists, but not optometrists, was associated with a significantly lower likelihood that individuals with an ARED had lost vision due to the condition.

Conclusion: Public health interventions may be needed in order to increase access to preventive eye care in areas with limited overall eye care provider availability and to improve the treatment of vision conditions in areas with limited ophthalmologist availability.     

Evaluation of the Northern Ireland National Artificial Eye Service: A Regional Audit of Patient and Prosthetic Characteristics

Purpose: The purpose of this study is to establish an up-to-date baseline of the profile of patients using the National Artificial Eye Service in Northern Ireland and to understand key areas of service provision, to contribute to patient and health-care provider education, and thus to improve patient outcomes for future researchers.

Methods: A prospective audit of artificial eye wearers attending the Northern Ireland National Artificial Eye Service between May 18, 2015 and June 26, 2015 was conducted.

Results: A total of 131 patients, who attended consecutively for appointments over the 6-week period, were included: males 68%; females 32%. The majority of eyes were lost secondary to trauma (54%). In recent decades, medical causes have now taken over as the primary referral cause for prosthetic eyes. Approximately, one-third of patients attending the service required further education on how to maintain the hygiene of their ocular prosthesis.

Conclusion: Patients attending artificial eye services should be further educated about using lubricants to maintain the hygiene of their prosthesis. Primary care health professionals (General Medical Practitioners and Primary Care Optometrists) should be informed about artificial eye services and of how to contact the service for advice if required. Trauma remains the most common cause for referral; however, in recent decades more patients are attending secondary to a medical cause of eye loss. Health service providers should be aware of the changing profile of patients attending artificial eye services and of the medical and traumatic causes of eye loss.     

Recruitment and Testing Protocol in the National Eye Health Survey: A Population-Based Eye Study in Australia

Purpose: To present the recruitment and testing methodology of the National Eye Health Survey (NEHS), a population-based study that aimed to determine the prevalence and causes of vision impairment and blindness in Australia.

Methods: Non-Indigenous Australians aged 50 years and older and Indigenous Australians aged 40 years and older were recruited using a door-to-door approach from 30 randomly selected geographical areas, stratified by remoteness. Participants underwent a vision examination, anterior segment assessment, intraocular pressure testing, perimetry, and fundus photography.

Results: In total, recruiters approached 23,235 residences, and 11,883 residents were successfully contacted (51.1%). Of these, 6760 (56.9%) were deemed eligible and 5764 agreed to participate (positive response rate = 85.3%). Of those who agreed, 4836 residents attended the examination (4836/6760 = 71.5%). This included 1738 Indigenous Australians (41.1% male) aged 40–92 years (mean ± standard deviation = 55.0 ± 10.0 years) and 3098 non-Indigenous Australians (46.4% male), aged 50–98 years (mean ± standard deviation = 66.6 ± 9.7 years).

Conclusions: The NEHS achieved an excellent positive response rate, and the data collected from 4836 Australians will provide the first population-based national estimate of the prevalence of vision impairment and blindness. This data will guide future economic analysis, policy formulation, and eye health service delivery in Australia.     

Eye Disorders among Adult People Diagnosed with Infantile Autism in Childhood: A Longitudinal Case Control Study

Purpose: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population.

Methods: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period.

Results: The overall prevalence of any eye disorder was 15.3% (18/118) in cases with IA, compared to 10.1% (34/336) in controls (p = 0.18). Refraction and accommodation disorders were significantly associated with IA: 7.6% (9/118) vs 1.2% (4/336) (p = 0.001). The rate of eye disorder was particularly high (24.5%) in those with a co-occurring profound or severe learning disability (IQ < 50).

Conclusions: Refraction and accommodation disorders were more frequently present in Danish adults with IA, particularly when a profound or severe learning disability was co-present. The increased prevalence of eye disorders in participants with a severe or profound learning disability, and the fact that people with IA do not necessarily realize the presence of a vision deficit, necessitates increased ophthalmological attention.     

The Importance of Conditional Probability in Diagnostic Reasoning and Clinical Decision Making: A Primer for the Eye Care Practitioner

Purpose: To outline and detail the importance of conditional probability in clinical decision making and discuss the various diagnostic measures eye care practitioners should be aware of in order to improve the scope of their clinical practice.

Methods: We conducted a review of the importance of conditional probability in diagnostic testing for the eye care practitioner.

Results: Eye care practitioners use diagnostic tests on a daily basis to assist in clinical decision making and optimizing patient care and management. These tests provide probabilistic information that can enable the clinician to increase (or decrease) their level of certainty about the presence of a particular condition. While an understanding of the characteristics of diagnostic tests are essential to facilitate proper interpretation of test results and disease risk, many practitioners either confuse or misinterpret these measures.

Conclusions: In the interests of their patients, practitioners should be aware of the basic concepts associated with diagnostic testing and the simple mathematical rule that underpins them. Importantly, the practitioner needs to recognize that the prevalence of a disease in the population greatly determines the clinical value of a diagnostic test.     

The African American Eye Disease Study: Design and Methods

Purpose: To describe the study design, operational and recruitment strategies, procedures, and baseline characteristics of the African American Eye Disease Study (AFEDS), a population-based assement of the prevalence of visual impairment, ocular disease, visual function, and health-related quality of life in African Americans.

Methods: This population-based, cross-sectional study included over 6000 African Americans 40 years and older residing in and around Inglewood, California. A detailed interview and eye examination was performed on each eligible participant. The interview included an assessment of demographic, behavioral, and ocular risk factors and health-related and vision-related quality of life. The eye examination included measurements of visual acuity, intraocular pressure, visual fields; fundus and optic disc photography; a detailed anterior and posterior segment examination; and measurements of blood pressure, glycosylated hemoglobin levels, and blood glucose levels.

Results: The AFEDS cohort includes more than 6000 participants that have completed a home questionnaire and a comprehensive eye examination. The majority of participants were female (63%), the average (± standard deviation) overall age was 60.9 (±11.3). Participants are mostly working (40%) or retired (41%), non-smoking (57%), partial drinking (54%), and with at least some college education (38%). A trust-development recruitment strategy was refined in order to overcome challenges in study participation.

Conclusion: The AFEDS is the largest epidemiologic eye study among African Americans to date. The AFEDS cohort will provide information about the prevalence and risk factors of ocular disease in the largest ophthalmologic study population of African Americans in the United States.     

Prevalence of Childhood Blindness and Ocular Morbidity in a Rural Pediatric Population in Southern India: The Pavagada Pediatric Eye Disease Study-1

Purpose: To determine the prevalence of childhood blindness and ocular morbidity in a rural pediatric population in South India.

Methods: A population-based, cross-sectional survey of children was conducted in three phases in Pavagada and Madhugiri taluks (subdivisions) of Tumkur district in the state of Karnataka, India. In the first phase, trained fieldworkers screened 23,100 children. In the second phase, children with eye diseases were referred to the peripheral hospital to be examined by a general ophthalmologist. In the third phase, children with major eye diseases were examined by a pediatric ophthalmologist.

Results: The prevalence of ocular morbidity was 2.66% (95% confidence interval, CI, 2.46–2.87%). The most commonly observed ocular morbidity was Bitot spots (1%) followed by refractive error (0.6%). In total, 18 children were blind and the prevalence of childhood blindness (best-corrected visual acuity <3/60) was 0.08% (95% CI 0.04–0.11%); 8 (44.44%) had retinal blindness, 5 (27.76%) had lens-related blindness, 2 (11.11%) had bilateral microphthalmos, 1 (5.56%) was blind due to anterior staphyloma in the right eye and anophthalmos in the left eye, 1 (5.56%) had bilateral uveal coloboma and 1 (5.56%) had cortical visual impairment.

Conclusions: Nearly half of the blindness in the population was due to unavoidable causes (retinal). In addition to providing eye care services, an appropriate service delivery model would include the provision of rehabilitative and low vision services and implementation of genetic studies to understand the causes and increase awareness of inherited eye diseases.     

The Prevalence of Age-Related Eye Disease in an Elderly Population

Purpose: To determine the prevalence of cataracts, age-related macular degeneration (AMD), glaucoma, and diabetic retinopathy (DR) in Iranians over the age of 54 years.

Methods: Through a cross-sectional study using randomized cluster sampling, 60 clusters were selected in Sari, a city in the North of Iran. In each cluster, 20 people over 54 years of age were chosen systematically and were invited to participate in the study. After enrollment, all participants had optometric and ophthalmologic exams including slit lamp biomicroscopy and fundoscopy.

Results: Of the 1185 selected persons, 937 (79.1%) participated in this study (age range 55–87 years). The prevalence of cataracts, AMD, glaucoma, and DR in at least one eye was 29.6% (95% confidence interval [CI] 26.6–32.5), 5.8% (95% CI: 4.3–7.3), 3.7% (95% CI: 2.5–5.0), and 2.7% (95% CI: 1.6–3.7), respectively. All prevalences significantly increased with aging. AMD was more prevalent in men (7.4%) than women (4.4%) (p = 0.054). Overall, 35.8% (95% CI: 32.7–38.8) of participants had at least one of the four conditions; this rate was 27.4% for the 55–59-year old age group and 52.4% for those over 75 years of age.

Conclusion: Overall, 35.8% of the studied population had at least one of the four diseases. Cataracts, followed by AMD, are the most common age-related eye diseases in the Iranian population, and thus, precise planning along with enhanced diagnostic and therapeutic facilities are necessary.     

Preliminary Study: Impact of Strabismus and Surgery on Eye Movements When Children are Reading

Aim: To evaluate differences in eye movements during reading in strabismic children and in non-strabismic age-matched children, and to evaluate the potential effect of strabismus surgery on eye movement performance.

Methods: The eye movements of nine strabismic children from 11 to 15 years old were recorded with an eye tracker as they were reading a text under three visual conditions before and six months after eye surgery. The results were compared with those obtained from control groups of non-strabismic age-matched children. Eye movements were recorded during reading a text with both eyes open and under monocular vision with the dominant and non-dominant eye alternately covered.

Results: The duration of fixation was longer in strabismic children than in age-matched non-strabismic children. Children read faster under dominant eye open condition than under both eyes open condition. Surgery allowed an increase of reading speed and decrease of fixation duration. The number of backward saccades significantly decreased after surgery.

Conclusion: In strabismic children, eye movements during reading are impaired. The reduction of the squint allowed a better word comprehension.     

Clinical Patterns and Causes of Uveitis in a Referral Eye Clinic in Qatar

Purpose: To determine the patterns and causes of uveitis in a referral eye clinic in Qatar.

Methods: A retrospective study was conducted on all cases of uveitis that presented to the Uveitis Clinic at Hamad Medical Corporation from March 2007 to February 2011. All patients had detailed ocular, medical examination, and uveitis work up.

Results: The study included 310 patients. Anterior uveitis was noted in 53.2% of cases (165/310), followed by panuveitis 16.8% (52/310), intermediate uveitis 16.5% (51/310), and posterior uveitis 13.6% (42/310). Causes of uveitis were determined in 69.7% (216/310) of cases. The most commonly identified causes of uveitis in our study were presumed ocular tuberculosis (14.5%), Fuchs uveitis (11.0%), Behçet disease (7.4%), and VKH disease (6.8%).

Conclusions: Anterior uveitis is the most common anatomic/clinical form of uveitis in Qatar and the etiologic diagnosis of uveitis should focus in particular on presumed ocular tuberculosis, Fuchs uveitis, Behçet disease, and VKH disease.     

Trends in cataract surgical rate and resource utilisation in Egypt

Purpose: To describe cataract services in Egypt and explore resources and practices in public and private sectors.

Methods: The study was conducted between June and August 2015. All facilities in the country providing cataract services were contacted to obtain information on surgeries performed in 2014. Hospitals performing eye surgery in Quena, Sharkia, and Fayoum regions were visited and a questionnaire on resources for cataract surgery was completed.

Results: Cataract surgery was offered in the public sector by 64 government and 16 university teaching hospitals and in the private sector by 101 hospitals. Over 90% of all facilities in the country contacted participated in the study. In 2014, the national cataract surgical rate (CSR) was 3674 varying in governorates from 7579 in Ismailia to 402 in Suez. The private sector performed 70% of cataract surgeries.

Analysis of three regions showed an 11.7% increase in cataract output between 2010 and 2014. The average number of cataract surgeries per unit in 2014 was 2272 in private, 1633 in university, and 824 in government hospitals. Private hospitals had 60% of human resources for eye care. Phacoemulsification was the surgical technique in 85.6% of private, 72.1% of university, and 41% of government hospitals.

Reasons explaining the differences in output between public and private sectors were the lack of trainers, supervisors, and incentives.

Conclusion: The private sector provides most of the cataract services in Egypt, resulting in inadequate services for the poor. There is a 15-fold variation in CSR between the best and least served regions. The public sector could increase cataract output by improving training, supervision, and incentives.     

Genus Distribution of Bacteria and Fungi Associated with Keratitis in a Large Eye Center Located in Southern China

Purpose: To investigate the genus distribution of bacteria and fungi associated with keratitis in a large eye center located in Southern China and to compare the results with existing data from other areas in China.

Methods: All results of corneal microbiological examinations from 2009 to 2013 of patients who had been clinically diagnosed with bacterial or fungal keratitis were obtained chronologically and anonymously from the microbiology database at Zhongshan Ophthalmic Center. Smear/culture data were reviewed and analyzed. Antibiotic resistance of the harvested bacteria was also evaluated.

Results: Of 2973 samples, the microbial detection rate was 46.05%; in which 759 eyes (25.5%) were positive for bacteria, 796 eyes (26.8%) were positive for fungi, and 186 eyes (6.3%) were co-infected with both fungi and bacteria. The most common type of bacteria isolated was Staphylococcus epidermidis (31.9%), followed by Pseudomonas aeruginosa (12.4%). The most common type of fungus was Fusarium species (29.3%), followed by Aspergillus species (24.1%). For the bacteria harvested, mean antibiotic resistance was chloromycetin (34.6%), cephalosporins (20.0%), fluoroquinolones (18.6%), and aminoglycosides (10.5%).

Conclusion: The genus distribution of organisms detected in keratitis cases in the largest eye center located in Southern China differs from those in other areas in China. In Southern China during the time period studied, S. epidermidis and Fusarium sp. were the most common pathogens of infectious keratitis. Monitoring the changing trend of pathogens as well as antibiotic resistance are warranted.     

Tutorial on Biostatistics: Statistical Analysis for Correlated Binary Eye Data

Purpose: To describe and demonstrate methods for analyzing correlated binary eye data.

Methods: We describe non-model based (McNemar’s test, Cochran-Mantel-Haenszel test) and model-based methods (generalized linear mixed effects model, marginal model) for analyses involving both eyes. These methods were applied to: (1) CAPT (Complications of Age-related Macular Degeneration Prevention Trial) where one eye was treated and the other observed (paired design); (2) ETROP (Early Treatment for Retinopathy of Prematurity) where bilaterally affected infants had one eye treated conventionally and the other treated early and unilaterally affected infants had treatment assigned randomly; and (3) AREDS (Age-Related Eye Disease Study) where treatment was systemic and outcome was eye-specific (both eyes in the same treatment group).

Results: In the CAPT (n = 80), treatment group (30% vision loss in treated vs. 44% in observed eyes) was not statistically significant (p = 0.07) when inter-eye correlation was ignored, but was significant (p = 0.01) with McNemar’s test and the marginal model. Using standard logistic regression for unfavorable vision in ETROP, standard errors and p-values were larger for person-level covariates and were smaller for ocular covariates than using models accounting for inter-eye correlation. For risk factors of geographic atrophy in AREDS, two-eye analyses accounting for inter-eye correlation yielded more power than one-eye analyses and provided larger standard errors and p-values than invalid two-eye analyses ignoring inter-eye correlation.

Conclusion: Ignoring inter-eye correlation can lead to larger p-values for paired designs and smaller p-values when both eyes are in the same group. Marginal models or mixed effects models using the eye as the unit of analysis provide valid inference.     

Clinical Objective Dry Eye Tests in a Population of Tannery Workers in North India

Purpose: To analyze the correlation between subjective symptoms and clinical signs of dry eye among tannery workers.

Methods: In this cross-sectional study, three classic clinical tests, namely the fluorescein tear film break-up time (FTBUT) test, the fluorescein staining (FS) test, and the Schirmer test (ST), were performed to assess the clinical signs of dry eye disease in 246 tanners who were found symptomatic for dry eye in a prior ocular surface disease index survey.

Results: All workers were male with a mean age of 35 ± 9 years, and the mean duration of work at tanneries was 8 ± 5 years. Among 246 symptomatic subjects, the FTBUT test, the FS test and the ST were positive in 63.8%, 30.9% and 41.9% workers, respectively. Mean FTBUT and ST scores were 10.6 ± 4.2 seconds and 10.1 ± 7.7mm, respectively. Mean FTBUT for mild, moderate and severe symptom categories differed significantly. Mean ST scores for the mild symptom group were significantly higher than that of the moderate group (p < 0.0001). The FTBUT and ST score showed a strong negative correlation with severity of symptoms (p < 0.0001). A moderate positive correlation was observed between FS positivity and increasing symptom severity (p < 0.0001). The effect of age was insignificant for FTBUT (p = 0.10), while significant for ST score (p < 0.001). The effect of duration of tannery work was significant for both FTBUT and ST scores (p < 0.0001).

Conclusion: Clinical tests correlated well with symptom severity among tanners, and a multifactorial etiology is suggested for dry eye diseases.     

A Multi-Center Diabetes Eye Screening Study in Community Settings: Study Design and Methodology

Purpose: Diabetes is the leading cause of new cases of blindness among adults aged 20–74 years within the United States. The Innovative Network for Sight Research group (INSIGHT) designed the Diabetic Eye Screening Study (DESS) to examine the feasibility and short-term effectiveness of non-mydriatic diabetic retinopathy (DR) screening for adults with diabetes in community-based settings.

Methods: Study enrollment began in December 2011 at four sites: an internal medicine clinic at a county hospital in Birmingham, Alabama; a Federally-qualified community healthcare center in Miami-Dade County, Florida; a university-affiliated outpatient pharmacy in Philadelphia, Pennsylvania; and a medical home in Winston-Salem, North Carolina. People 18 years or older with previously diagnosed diabetes were offered free DR screening using non-mydriatic retinal photography that was preceded by a brief questionnaire addressing demographic information and previous eye care use. Visual acuity was also measured for each eye. Images were evaluated at a telemedicine reading center by trained evaluators using the National Health System DR grading classification. Participants and their physicians were sent screening report results and telephoned for a follow-up survey 3 months post-screening to determine whether participants had sought follow-up comprehensive eye care and their experiences with the screening process.

Results: Target enrollment at each site was a minimum of 500 persons. Three of the four sites met this enrollment goal.

Conclusion: The INSIGHT/DESS is intended to establish the feasibility and short-term effectiveness of DR screening using non-mydriatic retinal photography in persons with diabetes who seek services in community-based clinic and pharmacy settings.     

Danish Rural Eye Study: Epidemiology of Adult Visual Impairment

Purpose: To examine the frequency and causes of visual impairment (VI) in a select population of Danish adults.

Methods: A total of 3843 adults aged 20–94 years from the Danish General Suburban Population Study (GESUS) were included in the population-based, cross-sectional ophthalmological study, Danish Rural Eye Study (DRES). All DRES participants received a comprehensive general health examination preceding their eye examination, including measurement of best-corrected visual acuity (BCVA) for each eye, bilateral 45° retinal fundus photographs and further ophthalmological examination where indicated.

Results: Overall, 3826 of 3843 participants (99.6%) had bilateral visual acuity measurements. The overall frequency of VI (BCVA <20/40 in the better-seeing eye) was 0.4% (95% confidence interval, CI, 0.2–0.7%; n = 15) among all DRES participants, 0.6% (95% CI 0.3–1.0%; n = 15) among participants >50 years and 3.7% (95% CI 2.1–6.5%; n = 11) in participants >80 years. The primary causes of VI in the better-seeing eye were age-related macular degeneration (AMD) in 46.7% (7/15) and cataract in 26.7% (4/15). A total of 43.3% (n = 115) of participants >80 years were pseudophakic in one or both eyes. The frequency of diabetes (HbA_1c ≥48 mmol/mol or self-reported diagnosis) was 5.9% (n = 227), including 1.3% (n = 51) newly diagnosed in the GESUS. Of participants determined to have VI due to exudative AMD, 50% had received anti-vascular endothelial growth factor (VEGF) treatment.

Conclusion: We report a relatively low frequency of VI among Danish adults over 59 years of age compared with that observed 10–15 years ago, which is both consistent with other recent Scandinavian studies and reflective of our relatively healthy and mobile population sample.     

Enucleation Refusal for Retinoblastoma: A Global Study

Background: Enucleation (eye removal) is often the only curative treatment for the childhood eye cancer retinoblastoma, yet parental refusal of enucleation commonly contributes to treatment delay and poor survival globally.

Methods: Physicians who treat retinoblastoma were surveyed to glean underlying reasons for treatment refusal.

Results: Refusal rates were higher when less time was spent with parents explaining retinoblastoma/enucleation, and where fewer support services were available. Reasons for refusal included parental belief in alternative treatments, culture, and social stigma.

Conclusions: We suggest strategies to increase parental compliance with enucleation and save the lives of children with retinoblastoma.     

MSX2 Gene Duplication in a Patient with Eye Development Defects

Background: MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina.

Materials and Methods: Herein we report the case of a child with bicoronal synostosis and cutaneous syndactylies, who presented iridal and chorioretinal colobomas. Due to the craniofacial features that were prominent in the clinical picture, the genes involved in craniosynostosis were explored.

Results: The patient disclosed an intragenic duplication of the entire MSX2 gene whereas no mutation was identified in any major genes known to be involved in craniosynostosis.

Conclusion: This is the first report of an eye development defect due to an increase in the MSX2 copy number in a human being. The implication of this gene in eye development has already been shown in several animal models. Indeed, overexpression of the Msx2 gene in a mouse model resulted also in optic nerve aplasia and microphthalmia. This report expands the phenotypic spectrum of the MSX2 mutations impacting early ocular development knowledge.