BACKGROUND Optic neuritis (ON) and multiple sclerosis (MS) are complex diseases with multifactorial pathogenesis. The role of genetic factors in the development of these diseases is hypothesized, and specific biochemical components involved in the pathogenesis of ON and MS are yet to be determined. The aim of our study was to determine the associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6

BACKGROUND Choroideremia is an X-linked retinal disease characterized by progressive atrophy of the choroid and retinal pigment epithelium caused by mutations in the CHM gene. SVA (SINE-R/VNTR/Alu) elements are a type of non-autonomous retrotransposon that occasionally self-replicate, reinsert randomly into a gene, and cause disease. Intragenic SVA insertions have been reported as the mechanism underlying

-associated retinopathy or "cone dystrophy with supernormal rod responses" is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K+ channels in photoreceptor inner segments. Currently, no treatment is available for the condition. However, there

Background: Senior-Løken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies.Materials and Methods: Case report of a patient with genetically proven SLS presenting with headaches and swollen optic nerve heads, review of medical notes and ophthalmic imaging

Purpose: To study the impact of a Retinoblastoma (Rb) screening program in the absence of genetic testing on the management and outcome of high-risk children.Methods: This is a retrospective, clinical case series of 76 children from families involved in a Rb screening program as they had higher than normal risk as calculated by the conventional ways without genetic testing. Data included calculated

Background: Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1.Materials and Methods: Single retrospective case report.Results: A full-term infant presented at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with

Purpose: To report a favorable effect of intravitreal dexamethasone implantation in Familial Retinal Arterial Macroaneurysms (FRAM).Methods: Retrospective Case Report.Results: A 32-year-old male who presented with bilateral retinal macroaneurysms. Whole Exome Sequencing (WES) revealed a homozygous c.830-1 G > A mutation in Insulin Growth Factor Binding Protein 7 (IGFBP7) gene, confirming the diagnosis

Background: Complement factor H (CFH) Y402 H (rs1061170) and age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69 S (rs10490924) polymorphisms shown to have significant association with AMD. In this meta-analysis, we updated and pooled the results of available association studies between combined ARMS2/LOC387715A69 S-CFHY402 H genotypes and AMD to estimate the synergistic effects.Methods:

Background: X-linked retinitis pigmentosa (XLRP) is a hereditary retinopathy that may present with cystoid macular edema (CME). The exact cause of CME in XLRP is unknown. We describe a case report of new-onset CME precipitated by travel to high altitude in an adult with XLRP, but no known prior history of CME.Case Description: A 38-year-old man with XLRP caused by a hemizygous pathogenic variant in

(2020). Correction. Ophthalmic Genetics. Ahead of Print.

Background: Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures. Norrie disease is caused by mutations in the Norrie disease pseudoglioma gene (NDP), which encodes the Norrin protein that plays

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy

Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to "atypical" Usher syndrome

Purpose: Our aim was to introduce a family affected by this rare phenotype, and perform the whole exome sequencing (WES) to explore the potential candidate genes causing the disorders.Methods: A five-generation family including five patients affected by FECD with APC, and nine patients suffered from only FECD was recruited from the First Affiliated Hospital of Harbin Medical University. All participants

Background: Type 1 Usher syndrome (USH1) is a rare disease and major cause of genetic deaf-blindness. Deafness is present from birth while retinitis pigmentosa (RP) which typically presents during childhood is progressive leading to blindness. The aim of this research was to develop a disease model describing USH1 symptoms and their impact on patients' lives.Materials and Methods: Qualitative interviews

Inherited retinal diseases - a disparate group of eye disorders with over 200 known genetic causes - are now the leading cause of blindness in working-age adults in developed countries. Until recently there was no cure for genetic eye diseases. After over a century of defining inherited retinal diseases with their phenotypes, and then several decades of discovering associated genes and their mutations

(2020). Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family. Ophthalmic Genetics. Ahead of Print.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch. While rare cases of cataract occurring in the setting of TSC have been reported

Background: Clinical genetics has evolved significantly to become an efficient and effective means of diagnosing disease. Genetic treatments are now being developed which are showing promising results. However, ophthalmic patients are not utilizing genetic testing as part of their diagnostic workups. This paper explores the patient experience at the Ocular Genetics Clinic (OGC) at the University of

(2020). Paroxonase (PON1-L55M) gene polymorphism and its association with Behçet’s disease among Iranian population. Ophthalmic Genetics. Ahead of Print.

(2020). Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis. Ophthalmic Genetics: Vol. 41, No. 2, pp. 198-200.

Background: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder due to genetic defect in the CYP4V2 gene. BCD is a disease characterized by shiny yellow crystalline deposits in the retina with progressive atrophy of the retinal pigment epithelium and choriocapillaris. Our aim is to present ocular imaging findings of a patient with BCD.Materials and Metods: A 38-year-old female

Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene. Materials and Methods This is a case report of a patient with a molecular

Purpose: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the BEST1 gene. We report a family with variable expressivity and incomplete penetrance in its members. Materials and Methods: A Mexican family was studied. It was comprised of six individuals (father, mother, and four children). A clinical history was taken, and a complete

Background: Chromosomal deletion involving the 6p25 region results in a clinically recognizable syndrome characterized by anterior eye chamber anomalies with risk of glaucoma and non-ocular malformations (6p25 deletion syndrome). We report a newborn infant case of childhood glaucoma with a combination of partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation. Materials and

Background: Mutations in CEP290 cause autosomal recessive conditions with a wide range of severity and the lack of strong genotype-phenotype data makes it difficult to provide accurate prognostic data to patients and families. Methods: A retrospective chart review was conducted on a patient with a clinical diagnosis of Senior-Loken Syndrome, molecularly confirmed biallelic nonsense mutations in CEP290

Background: Hydroxychloroquine retinal toxicity can occur in up to 7.5% of patients receiving treatment; however, possible genetic risk factors are poorly understood. The main objective of the study was to explore candidate genetic risk factors for retinal toxicity. Materials and Methods: Case–control study of patients with confirmed hydroxychloroquine retinal toxicity identified through ophthalmology

Background: Usher syndrome is the most common hereditary syndrome combining deafness and blindness. In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were also at least 70 other etiologies of deaf-blindness documented. The purpose of this study was to analyze the work-up and ultimate diagnoses of 21 consecutive families

Purposes: To explore OCT-A abnormalities in CHM carriers Methods: CHM carriers and age-matched controls were consecutively enrolled at the Eye Clinic in Florence. All patients underwent a complete ophthalmic examination, fundus photography, fundus autofluorescence (FAF) and OCT examinations. OCT-A images of the superficial capillary plexus (SCP), deep capillary plexus (DCP) and choriocapillaris slab

ABSTRACT Background: Tessellated fundus refers to a specific change in the appearance of the internal layers of the eye in which the choroidal large vessels became visible through polygonal hypopigmented areas. Such hypopigmented areas alternate with hyperpigmented zones in a tigroid pattern. Fundus tessellation is often associated with myopia and choroidal thinning. Materials and Methods: We analyzed

Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family. Methods: Whole exome sequencing (WES) was performed on one affected

Aim: To evaluate the role of ultrasound biomicroscopy (UBM) in retinoblastoma (RB). Methods: Children with advanced unilateral RB were included. UBM was performed to look for tumour invasion into the anterior segment (AS) and for evaluation of quantitative parameters. Enucleation was done and UBM findings were correlated with histopathology. The main outcome measures were sensitivity and specificity

Background: Sturge–Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota

Purpose: Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder typified by localized or generalized cutaneous vascular anomalies, which dissipate over time. We review the diagnostic approach to CMTC and present a comprehensive examination of its ocular manifestations. Additionally, we offer recommendations for the ophthalmologic workup for patients with CMTC. Finally, we examine

Purpose: There are conflicting results of studies investigating the association between the tumor necrosis factor (TNF) and angiotensin-converting enzyme (ACE) gene polymorphisms and Behcet's disease (BD). The aim of this meta-analysis is to assess the association between these gene polymorphisms and ocular involvement in BD.Methods: We identified relevant studies and reviewed the full-text manuscripts

Background: The retinol binding protein 4 (RBP4) is essential in delivering retinol to the retinal pigment epithelium and normal functioning of the visual cycle. Homozygous mutations in the RBP4 gene lead to severe retinitis pigmentosa that is phenotypically indistinguishable from retinitis pigmentosa caused by other recessive mutations.Methods: Case Report.Purpose: To report a novel homozygous RBP4

Background: Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). Affected patients manifest ocular, auditory, articular, and craniofacial manifestations in varying degrees. Ocular symptoms include myopia, retinal detachment, cataract, and glaucoma. The aim of this systematic review was to evaluate the prevalence of ocular manifestations and the outcome

(2020). “Role of polymorphisms of the NLRP3 inflammasome in uveitis”. Ophthalmic Genetics. Ahead of Print.

(2020). Albinism and a mitochondrial DNA deletion. Ophthalmic Genetics. Ahead of Print.

Background: Waardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature. Materials and Methods: We describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I. Case Description: Our patient had

Purpose: A large genome-wide association study showed that five new variants, {EPDR1 (rs3816415), CHAT (rs1258267), GLIS3 (rs736893), FERMT2 (rs7494379), and DPM2–FAM102A (rs3739821)}, were associated primary angle-closure glaucoma (PACG). Considering the shared clinical features between primary open-angle glaucoma (POAG) and PACG, this study was conducted to investigate the association of these genetic

Background: Diabetic retinopathy (DR) is a severe complication of diabetes and a common cause of visual loss in adults. We aimed to assess the correlation between IL gene-related SNPs and the incidence of DR and attempted to predict DR with combined mutation site detection. Methods: A systematic search of databases was performed up to August 2019. Five genetic models were used to analyze associations

Introduction: Biallelic mutations in neuraminidase 1 (NEU1) are associated with cherry-red spots. Whole genome sequencing contributes to eliminating pseudo-homozygous mutations when large-scale deletion of one allele in NEU1 and other genes occurs. Patients and methods: Bilateral cherry-red spots in the macula were the only detectable sign in an 11-year-old girl with reduced visual acuity over the

Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has been reported

Background: To investigate the associations of Single Nucleotide Polymorphisms (SNPs) in the VIPR2 and ZMAT4 genes with high myopia in a Han Chinese population.Materials and Methods: In this case-control genetic association study comprising 193 high myopia participants and 135 normal emmetropic controls from a Han Chinese population, 15 SNPs from the VIPR2 and ZMAT4 genes were selected for genotyping

Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and eye. This study investigated individuals with X-linked Alport syndrome for corneal abnormalities.Patients and Methods: Six men and four women from 8 families with genetically-diagnosed X-linked Alport syndrome underwent ophthalmological examination including slit lamp examination

Background: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.Materials and methods: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014

Background: We present a longitudinal clinical characterization of PYGM-linked pattern dystrophy in an adult male patient.Materials and Methods: A patient affected by McArdle disease (glycogen storage disease type V) and homozygous for the nonsense variant PYGM c.148C>T p.(Arg50*) underwent ophthalmic examinations over a 9-year-interval, including fundus photography, fundus autofluorescence, optical

Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis.Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or

Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthalmos (NO) or posterior microphthalmos (PM). This study describes detailed clinical and molecular findings in a series of five patients affected by PM from four unrelated families.Materials and Methods: All patients underwent a complete ophthalmological and genetic evaluation. For proper and deep phenotyping

Background: Several studies have investigated two single nucleotide polymorphisms (SNPs) (rs4986790 and rs4986791) of toll-like receptor 4 (TLR4) and age-related macular degeneration (AMD) susceptibility. However, their results varied. Here, we performed a systematic review and meta-analysis to investigate the association between these two SNPs and AMD susceptibility.Materials and Methods: We searched

Patient-reported outcome (PRO) measures have the potential to uniquely capture patient experience and serve as an outcome measure in inherited retinal degeneration (IRD) gene therapy trials. An IRD-specific patient-reported outcome measure may yield valuable information that has not been obtained from inherited retinal dystrophy gene therapy trials published to-date. Existing PRO measures have inherent

Background: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal disorder. Mutations in retinal degeneration 3 (RD3) have been reported as an infrequent cause of LCA which account for less than 1% of all known LCA cases. This case report provides Optical Coherence Tomography (OCT) and Fundus Autofluorescence (FAF) findings of an infant with LCA related

We present a 6-year-old boy with unilateral retinoblastoma of the left eye. MRI showed an intraocular tumor that extended into the optic nerve beyond the lamina cribrosa. The affected eye was enucleated and the optic nerve resection margin proved to be free. Following protocol, this patient received six courses of adjuvant systemic chemotherapy. Unfortunately, after 5 months this patient returned with

Purpose: To study the role of external beam radiation therapy (EBRT) for the treatment of retinoblastoma eyes that were not cured by combined systemic chemotherapy and focal consolidation therapy.Methods and Materials: A retrospective case series of 28 eyes for 24 retinoblastoma patients treated by EBRT after the failure of tumor controlled by chemotherapy and focal therapy. The main outcome measures

Background: To evaluate the long-term progression of autosomal recessive retinitis pigmentosa (RP) due to mutations in KIZ using multimodal imaging and a quantitative analytical approach.Methods: Whole exome sequencing (WES) and targeted capture sequencing were used to identify mutation. Fundus photography, short-wavelength autofluorescence (SW-AF), spectral-domain optical coherence tomography (SD-OCT)

Purpose: Neonatal retinal folds and/or vitreoretinal traction can be signs of isolated ocular or syndromic disorders. Etiologies include retinopathy of prematurity, perinatal infections or inherited vitreoretinal disorders such as familial exudative vitreoretinopathy (FEVR) or Norrie disease. We present the clinical and genetic findings of a two-month-old infant with microcephaly, mild motor developmental