Leber congenital amaurosis (LCA) is a heterogeneous, early‐onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease‐causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus. Target exome sequencing was performed to analyse the proband DNA. A homozygous novel c. 2889delT  (p.P963 fs) mutation in the RPGRIP1 gene was identified, which was likely the deleterious and pathogenic mutation in the proband. Structurally, this mutation lost a retinitis pigmentosa GTPase regulator (RPGR)‐interacting domain at the C‐terminus which most likely impaired stability in the RPGRIP1 with the distribution of polarised proteins in the cilium connecting process. Sanger sequencing showed complete co‐segregation  in this pedigree. This study provides compelling evidence that the c. 2889delT  (p.P963 fs) mutation in the RPGRIP1 gene works as a pathogenic mutation that contributes to the progression of LCA.

Necessary attention should be paid to amblyopia, although its prevalence in Iran is mid-range when compared with other countries. Amblyopia is more common in hyperopic and astigmatic individuals and therefore it is important to pay more attention to this refractive error during childhood. Since strabismus is the most common cause of amblyopia in Iran, children need to be checked for strabismus before the age of 5 years.

This study showed the prevalence of tropia and phoria across Iran. Exotropia was the most common type of tropia in Iran and intermittent strabismus was the most common type of strabismus. Due to prevalent amblyopia in strabismus, attention should be directed toward careful screening and treatment.

Complications of cataract surgery in Iran had a decreasing trend during 2006-2010. However, results from 2010 indicate that cataract surgical complications still need to be focused on. Hospitalization was longer for cases with complications, and further reducing this could help decrease costs of cataract surgery.

The findings of this study could be used as a reference for diagnosis and treatment in Iran and the Middle East region. Increase in age and decrease in the ACD were important factors associated with decreased ACA and ACV, although the correlation of other biometric components was also evaluated. Some of these components, such as the corneal curvature and lens thickness, had a significant relationship with these two variables.

Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T>C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T>C in the BBS5 gene for the first time in the Iranian family.

There seems to be reduced corneal rigidity and stiffness in cases exposed to mustard gas, which causes the cornea in the DMGK group to become applanated more easily and take longer to rebound compared with the other two groups. Also, IOP was lower than normal in the DMGK group, and thus, misdiagnosis of glaucoma is likely for these patients.

Purpose:The purpose of this study was to determine the prevalence of a history of ocular trauma and its association to age, sex, and biometric components.Materials and Methods:Residents of Shahroud, Iran aged 40–64 years, were sampled through a cross-sectional study using multistage cluster sampling. Three hundred clusters were randomly selected, and 20 individuals were systematically selected from each cluster. The subjects underwent optometric and ophthalmic examinations, and ocular imaging. A history of ocular trauma was determined through personal interviews.Results:The prevalence of a history of trauma and blunt trauma, sharp trauma, and chemical burns were 8.57%, 3.91%, 3.82%, and 1.93%, respectively. After adjusting for age, the rate of all types of trauma was significantly higher for males. Only the prevalence of chemical burns significantly decreased with aging. A history of hospitalization was stated by 1.64% of the subjects. The axial length was significantly longer in cases with a history of trauma. The corneal curvature was significantly larger in cases with a history of sharp trauma and chemical burns. The prevalence of corneal opacities was significantly higher among cases with a history of the blunt trauma odds ratio (OR = 2.33) and sharp trauma (OR = 4.46). Based on corrected visual acuity, the odds of blindness was 3.32 times higher in those with a history of ocular trauma (P < 0.001).Conclusion:A considerable proportion of the 40–64-year-old population reported a history of ocular trauma. This observation has important health implications. Blindness, corneal opacities, and posterior subcapsular cataract were observed more frequently among these cases, and they demonstrated differences in some ocular biometric components.