ABSTRACT Purpose In a cohort of eight families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in CNGB1. Methods Visual function was determined by measuring the patients’ visual acuity, dark- and light-adapted perimetry, and by full-field electroretinography. Retinal structure was evaluated with spectral-domain optical

ABSTRACT Background Heterozygous c.440 G > T mutation in the S-antigen visual arrestin (SAG) gene has been described as a cause of autosomal dominant retinitis pigmentosa (adRP) in a series of patients of Hispanic origin. This study presents the early and late clinical features and disease progression rates in an Australian family with SAG adRP. Materials and methods An observational case series of

ABSTRACT Background Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mutation. We reported ophthalmic findings in a Chinese child with genetically confirmed Coats plus syndrome. Materials and Methods The comprehensive ophthalmic findings were presented, as well as treatment history and systemic manifestations. In addition, genetic testing

ABSTRACT Background Mutations in the splicing factor pre-messenger RNA processing factor 31 (PRPF31) gene cause autosomal dominant retinitis pigmentosa 11 (RP11) through a haplo-insufficiency mechanism. We describe the phenotype and progression of microperimetry and autofluorescence endpoints in an Indigenous Australian RP11 family. Patients and Methods Ophthalmic examination, optical coherence tomography

(2020). Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome. Ophthalmic Genetics. Ahead of Print.

Background: Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in ASPA, a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation of N-acetylaspartic acid. Progressive white matter changes occur in the central nervous system. The disorder is often fatal in early childhood,

Background S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants in CRB1 gene are known to cause a wide spectrum of autosomal recessive retinal diseases with Leber’s congenital amaurosis as a most common. The aim of this study is to report co-inheritance of neurometabolic

Background To report the case of a patient with two distinct genetic systemic diseases – pseudoxanthoma elasticum (PXE) and Usher syndrome – confirmed by genetic testing. Materials and Methods Single Retrospective Case Report Results A 36-year-old woman presented with acute central vision loss of the left eye (OS). Fundus exam revealed choroidal neovascularization OS in the setting of angioid streaks

Background To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family. Materials and methods Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography

Background Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the TIMP3 gene. Clinical exam findings typically drusen –like deposits beneath the RPE or reticular pseudo drusen deposits above the RPE with a majority of patients developing choroidal neovascularization. Materials and Methods Case report of two members of a family that present with atypical clinical

Background Historically, CRX mutations have been associated with cone-rod dystrophy, cone dystrophy, Leber’s congenital amaurosis, and retinitis pigmentosa. There is recent emerging evidence of an adult-onset macular dystrophy phenotype. We review the published literature and discuss the first case of heterozygous CRX R90 W macular dystrophy. Materials and Methods The patient received serial ophthalmic

Purpose To describe clinical, anterior segment optical coherence tomography (AS-OCT), in vivo confocal microscopy (IVCM), histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b (MEN 2b) syndrome Materials and methods Retrospective case report of a patient with MEN 2b. Results A 31-year-old male diagnosed with MEN 2b presented with eye redness, burning

Background Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. Materials and Methods Physical and complete ophthalmic examination, molecular diagnosis. Results Over nine years of follow-up, the subject manifested progressive signs and symptoms

(2020). A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome. Ophthalmic Genetics: Vol. 41, No. 5, pp. 501-504.

(2020). Assessment of incorporation of the International Committee for Classification of Corneal Dystrophies (IC3D) in literature. Ophthalmic Genetics: Vol. 41, No. 5, pp. 507-509.

Objective: To determine the clinical relevance and frequency of BEST1 and PRPH2 mutations in a clinically diagnosed adult-onset vitelliform macular dystrophy (AVMD) group with Caucasian ethnicity. Methods: The study comprised 24 patients who had been diagnosed with AVMD via indirect fundus ophthalmoscopy and presented with a dome-shaped appearance between the retinal pigment epithelium and photoreceptors

Background Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. Material and methods This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort

Significance The responsible genetic variants for occult macular dystrophy (OMD) were found at the predicted intrinsically disordered region (IDR) of the RP1L1 gene. Purpose We examined the phenotypes and genotypes of family members from OMD. In addition, the genetic characteristics of the RP1L1 gene in OMD were investigated. Methods Whole-exome sequencing was applied on two affected family members

Introduction Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and reduced vision. Materials and methods We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were

Background Autosomal Dominant Optic Atrophy (ADOA) is caused by mutations in the Optic Atrophy 1 Gene which disrupts the OPA1 protein. This disruption affects the normal function of the protein; impairs fusion of the mitochondrial inner membrane; and prevents normal OPA1 protein degradation. These events cause damage in retinal ganglion cells that could affect the patients with symptoms ranging from

Background Most transforming growth factor beta-induced (TGFBI) corneal dystrophies are associated with a characteristic phenotype, clinical course, and a conserved mutation in the TGFBI gene. However, we report a novel TGFBI missense mutation associated with a late-onset, variant Bowman layer dystrophy. Methods Participants underwent slit-lamp examination and multimodal imaging. Polymerase chain reaction

Purpose To describe a unique ocular presentation of Cat Eye Syndrome and review the ocular and systemic findings associated with the syndrome. Methods Case report with multimodal imaging. Results A newborn female presented with a unilateral Peters anomaly with contralateral microphthalmia with cyst. The patient’s other systemic findings included a hypoplastic right heart, persistent ductus arteriosus

Background Mutations in CERKL gene has been reported to cause Retinitis pigmentosa (RP) and clinically appears discrete from other commonly encountered phenotypes. We report 14 patients who were seen to have CERKL mutation of the 152 patients of RP from Indian population who underwent genetic testing. Materials and Methods A retrospective analysis was performed in 28 eyes of the 14 unrelated patients

Background Toll-like receptor 4 (rs4986790, rs4986791) single nucleotide polymorphisms (SNPs) have been shown to be associated with age-related macular degeneration (AMD), but the results are still inconclusive. The present meta-analysis was conducted to evaluate the association between SNPs of TLR4 gene and AMD susceptibility. Methods Relevant articles were obtained through computer retrieval of Pubmed

Background Pathogenic variants in DYRK1A are associated with DYRK1A-related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported ocular features include deep-set eyes, myopia, and strabismus. We present a case of DYRK1A-related intellectual disability syndrome with ocular findings

Background CFH and HTRA1 are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (SNPs) among Hispanics from Mexico. Materials and methods 122 cases and 249 controls were genotyped using Taqman probes. Experienced ophthalmologists

Background Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. The main differential diagnosis is X-linked retinitis pigmentosa. Clinically, male patients that are affected by these two diseases have similar symptoms. This work aims to report a familial case of choroideremia initially diagnosed as X-linked retinitis pigmentosa with a novel mutation in the CHM gene

ABSTRACT Purpose The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the HK1 gene. Methods Three generations

Introduction Conjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called ‘giant’ conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocular surface giant congenital melanocytic nevus and describe her clinical course. Case Description This is a retrospective case report of a single patient. A 47-year-old female with a history

Purpose Bardet-Biedl syndrome (BBS) is rare in the Philippines and only limited information on the prevalent subtypes is available as yet. The purpose of this study is to present the clinical characteristics of two Filipino siblings presenting with mutations in BBS5. Patients and Methods The Filipino female siblings, aged 11 and 14 years underwent comprehensive ophthalmologic evaluation. Fundus photography

Purpose To identify the mutation causing an autosomal dominant congenital nuclear cataract in a south Indian family by whole exome sequencing and to characterize further phenotypically the same in a zebra fish model. Methods A six-generation family (DKEC1) with several affected members registered at the Regional Institute of Ophthalmology (RIO), Chennai was documented to have congenital nuclear cataract

Background The GUCY2D gene encodes the photoreceptor guanylate cyclase (GC-E) and different pathogenic variants can lead to Leber congenital amaurosis (LCA) or cone-rod dystrophy (CRD). In this study, we describe three unrelated families who carried different mutations at codon 838 of the GUCY2D gene, and presented different phenotypes of retinal degeneration. Materials and Methods Family and personal

(2020). Corneal endothelial alterations in recessive cornea plana: a report of four patients and review of literature. Ophthalmic Genetics. Ahead of Print.

Background Clinical assessment of patients with IRD often includes thorough documentation of medical and ocular history in addition to genetics related practices like assessing the family history and genetic testing. Previous studies have demonstrated the genetic counseling needs of IRD patients are not being fully met, but there is a lack of literature showing the current genetics practices of ophthalmologists

BACKGROUND Clinical assessment of patients with IRD often includes thorough documentation of medical and ocular history in addition to genetics related practices like assessing the family history and genetic testing. Previous studies have demonstrated the genetic counseling needs of IRD patients are not being fully met, but there is a lack of literature showing the current genetics practices of ophthalmologists

Background The spermatogenesis-associated protein-7 (SPATA7) gene encodes a ciliary protein that is expressed in the photoreceptors and in spermatocytes. Mutations in the SPATA7 gene are associated with congenital and early-onset forms of retinal dystrophy. Methods Papers and review articles on SPATA7 were retrieved from the PubMed database using the search terms “SPATA7” and “spermatogenesis-associated

Background Detection of germline RB1 mutations is critical for risk assessment of retinoblastoma (RB) patients. Assessment of somatic copy number alterations (SCNAs) is also critically important because of their prognostic significance. Herein we present a refined approach for the simultaneous identification of RB1 variants and SCNAs in the aqueous humor (AH) of RB eyes. Materials and Methods Subjects

BACKGROUND Detection of germline RB1 mutations is critical for risk assessment of retinoblastoma (RB) patients. Assessment of somatic copy number alterations (SCNAs) is also critically important because of their prognostic significance. Herein we present a refined approach for the simultaneous identification of RB1 variants and SCNAs in the aqueous humor (AH) of RB eyes. MATERIALS AND METHODS Subjects

BACKGROUND The spermatogenesis-associated protein-7 (SPATA7) gene encodes a ciliary protein that is expressed in the photoreceptors and in spermatocytes. Mutations in the SPATA7 gene are associated with congenital and early-onset forms of retinal dystrophy. METHODS Papers and review articles on SPATA7 were retrieved from the PubMed database using the search terms "SPATA7" and "spermatogenesis-associated

Purpose To describe the clinical, electrophysiological, and molecular features of an unusual macula-predominant retinopathy in two unrelated probands with biallelic variants in RDH12. Methods Retrospective case series Results A 29-year-old female presented with visual loss since the age of 14 years. Retinal examination revealed symmetric outer retinal atrophy in the posterior pole with peripapillary

(2020). Two novel PDE6C gene mutations in Chinese family with achromatopsia. Ophthalmic Genetics. Ahead of Print.

Purpose Keratoconus (KC) is a corneal ectasia disease with complex genetic heterogeneity. The present study aimed to identify susceptibility genes in Chinese patients with KC. Methods Exome sequencing (ES) was performed in 28 Chinese KC patients to search for susceptibility genes of the disease. The candidate variants were filtered out by multi-step bioinformatics analysis and validated by Sanger sequencing

Purpose To describe the presence of outer retinal tubulations (ORTs) in a patient diagnosed with maternally inherited diabetes and deafness (MIDD) – associated macular dystrophy. Methods The patient underwent clinical examination assessing best-corrected visual acuity (BCVA), anterior segment evaluation and fundoscopy followed by optical coherence tomography (OCT). Audiological evaluation was also

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 Heterogeneity

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

Purpose Generate content for a patient-reported outcome (PRO) measure for use in future clinical trials for inherited retinal degenerations. Methods Patients at the University of Michigan Kellogg Eye Center with a clinical diagnosis of inherited retinal degeneration with varying phenotypes were recruited for interviews. First, in-depth interviews were performed to solicit a wide range of patient experiences

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

Introduction Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negative. We present the molecular findings of the Oxford phenotype-based NGS panels for

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

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

Retinoblastoma is the most common pediatric intraocular cancer. Rarely, it may develop in adults, with different clinical and imaging characteristics that make the diagnosis a challenge. We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enucleation an undifferentiated tumor was found without a conclusive diagnosis. Molecular analysis identified

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

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

Coats plus syndrome (CP) is a rare condition characterized by bilateral exudative retinal telangiectasias with associated systemic disorders primarily affecting the brain, bone and gastrointestinal tract due to a mutation in the CTC1 gene. CTC1 mutations are also known to cause dyskeratosis congenita (DC), which is an inherited bone marrow failure syndrome characterized by skin pigmentation abnormalities

Purpose Phototherapeutic keratectomy (PTK) with 193-nm excimer laser is a safe and effective procedure for the treatment of superficial corneal pathology. We aimed to review the use of PTK for the treatment of corneal macular dystrophy (MCD). Methods Case report and literature review Results A 16-year-old boy presented to an ophthalmologist with a 4-year history of reduced vision, glare and photophobia

Background Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome. Genetic abnormalities have been shown to account for 80% of cases in bilateral anophthalmia or severe microphthalmia, where 25–30% were attributed to chromosomal defects in this subset of MAC patients. To date, chromosome 9 short arm (9p) abnormalities

Background Adams–Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31

Background Sjögren-Larsson syndrome (SLS) is a rare genetic neurocutaneous disease caused by mutations in ALDH3A2 that results in deficiency of fatty aldehyde dehydrogenase and accumulation of fatty aldehydes and alcohols. The disease is associated with ichthyosis, spasticity, and intellectual disability. Patients exhibit a characteristic retinopathy with macular crystalline inclusions that first appear

Background Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common IRD and is characterized by the primary involvement of the rod photoreceptors. Over 80 causal genes have been identified so far giving clinicians insight into the pathogenesis. SLC4A7 encodes

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