A 26-year-old lady with a severe visual fall was referred to the Basir eye clinic for electroretinography (ERG). She claimed that three years ago she had undergone refractive surgery for her visual acuity fall, and since then she was experiencing gradual visual decay. Herein, the ERG recording showed that she was suffering from Retinal Dystrophy. Thus, in certain cases, before performing refractive surgery, an ERG-mediated Retinal examination is suggested for achieving the desired outcome.

The approval of voretigene neparvovec-rzyl by the US Food and Drug Administration (FDA), in December 2017, marked the beginning of a new era in medicine in which many inherited diseases will be essentially corrected by gene therapy. Voretigene neparvovec-rzyl, with the trade name of Luxturna, is the first gene therapy for an inherited disease. It is intended for the treatment of RPE65 mutation-associated Retinal Dystrophy, making it the second commercially available treatment for inherited Retinal disease (IRD) after Retinal prostheses (Argus II and Alpha IMS) which were commercialized a few years earlier. Unlike Retinal prostheses, voretigene neparvovec-rzyl modifies the course of the disease.

A twelve-year-old girl suffering from tuberous sclerosis complex was referred to Basir Eye Clinic, Tehran, Iran, for electrophysiological eye examinations, including visual evoked potential (VEP) and electroretinography (ERG). The patient's medical history showed that she experienced seizures at the age of ten, for which treatment with vigabatrin was initiated. Her field of vision was abnormal, potentially due to the side effects of vigabatrin. The ERG results were also abnormal.

Purpose: To clarify the difference of Retinal nerve fiber layer (RNFL) thicknesses between patients with retinitis pigmentosa (RP) and normal subjects. Methods: The study included right eyes of 30 patients with non-late-stage RP, which had a waxy pallor in OD, attenuation in Retinal arterioles, and midperipheral bone spicule pigmentary changes. To compare the RNFL analysis with normal subjects, the right eyes of 30 age-and gendermatched healthy subjects were included as a control group. Results: There were no differences between the RP and control groups in terms of demographic and baseline characteristics (P > 0. 05, for all). The mean temporal quadrant RNFL thickness was 102. 9 ± 31. 7 mm (43e222) in the RP group and 72. 4 ± 11. 8 mm (51e90) in the control group (P < 0. 001). The mean nasal quadrant RNFL thickness was 57. 6 ± 33. 7 mm (21e140) in the RP and 75. 0 ± 14. 1 mm (56e132) in the control group (P < 0. 001). There were no significant RNFL thickness differences between the groups in other sectors and globally (P > 0. 05, for all). There was no significant correlation between temporal RNFL thickening and ageing (r ¼  0. 136, P ¼ 0. 196) while there was a significant correlation between nasal RNFL thinning and ageing (r ¼  0. 274, P ¼ 0. 047). Conclusions: RNFL is thicker in temporal quadrants and thinner in nasal quadrants in non-late stage RP. Age-related decreases in RNFL thickness occurred earlier in the nasal quadrant and RNFL thickening in the temporal quadrant occurred earlier than this global thinning.

Purpose: Stargardt disease type 1 (STGD1) is a recessively inherited Retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1. ABCA4 codes a transporter protein exclusively expressed in Retinal photoreceptor cells. The gene contains 50 exons. Mutations are most frequent in exons 3, 6, 12, and 13, and exons 10 and 42 each contain two common variations. We aimed to screen these exons for mutations in Iranian STGD1 patients. Methods: Eighteen STGD1 patients were recruited for genetic analysis. Diagnosis by retina specialists was based on standard criteria, including accumulation of lipofuscin. The six ABCA4 exons were PCR amplified and sequenced by the Sanger method. Results: One or more ABCA4-mutated alleles were identified in 5 of the 18 patients (27. 8%). Five different mutations including two splice site (c. 1356+1G>A and c. 5836-2A>G) and three missense mutations (p. Gly1961Glu, p. Gly1961Arg, and p. Gly550Arg) were found. The p. Gly1961Glu mutation was the only mutation observed in two patients. Conclusion: As ABCA4 mutations in exons 6, 12, 10, and 42 were identified in approximately 25% of the patients studied, these may be appropriate exons for screening projects. As in other populations, STDG1 causative ABCA4 mutations are heterogeneous among Iranian patients, and p. Gly1961Glu may be relatively frequent.

Objective:Ullrich congenital muscular Dystrophy is a rather severe type of congenital muscular Dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

Purpose: To identify the potential genetic factors responsible for Retinal capillary hemangioblastoma (RCH) and Type II granular corneal Dystrophy (GCDII), with autosomal dominant inheritance. We used whole-exome sequencing (WES) in an Iranian family to identify the possible genetic etiology of RCH and GCDII with other manifestations of von Hippel–Lindau (VHL) disease. Methods: This study included one Iranian family for WES in index patients and Sanger sequencing in all available individuals. Results: Clinical presentations of these patients included RCH, GCD, central nervous system hemangioblastoma as well as pancreatic cyst. WES disclosed a heterozygous known pathogenic variant c. 371G>A (p. R124H) in exon 4 of gene TGFBI. Conclusions: For the first time, our research identified the potential involvement of TGFBI: c. 371G>A (p. R124H) in an Iranian family with RCH, GCDII, and other symptoms of VHL disease. In the future, TGFBI could offer a new understanding and a promising therapeutic approach for both GCDII and VHL diseases simultaneously. Before using the variant in genetic counseling, it is recommended to conduct functional analysis using appropriate animal models to understand its pathogenesis mechanism.