abstract：:Background: Syndromic ciliopathies have been variably linked to different retinal dystrophies. However, to date, few reports have characterized by means of multimodal imaging the retinal degeneration occurring in Mainzer-Saldino syndrome (MSS). Methods: Two siblings with history of kidney disease and other systemic ab...

journal_title：Ophthalmic genetics

authors： Romano F,Dautaj A,Esposito RA,Bertelli M,Staurenghi G,Salvetti AP

更新日期：2021-01-03 00:00:00

abstract：:Purpose: To report novel mutations in the FZD4 and LRP5 genes, associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients. Methods: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were ide...

journal_title：Ophthalmic genetics

authors： Carrera W,Ng C,Desler C,Jumper JM,Agarwal A

更新日期：2020-12-10 00:00:00

abstract：:Background: The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC). Methods: Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-g...

journal_title：Ophthalmic genetics

authors： Yu Y,Xu J,Qiao Y,Li J,Yao K

更新日期：2020-12-04 00:00:00

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 patie...

journal_title：Ophthalmic genetics

authors： Kubota D,Matsumoto K,Hayashi M,Oishi N,Gocho K,Yamaki K,Kobayakawa S,Igarashi T,Takahashi H,Kameya S

更新日期：2020-12-01 00:00:00

abstract：PURPOSE:Age-related macular degeneration (AMD) as the leading cause of central visual loss in the developed countries has extensive pathologic similarities with Alzheimer's disease (AD). Saitohin rs62063857 Q7 R polymorphism is associated with increased risk of AD though we decided to evaluate the possible association ...

journal_title：Ophthalmic genetics

authors： Bonyadi M,Ahmadieh H,Jabbarpoor Bonyadi MH,Shahpasand K,Suri F,Nasrabadi N,Yaseri M,Kheiri B,Soheilian M

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants. MATERIALS AND METHODS:Four affected individuals were involved in this study. Three of them underwent detai...

journal_title：Ophthalmic genetics

authors： Li H,Li H,Yang L,Sun Z,Wu S,Sui R

更新日期：2020-10-01 00:00:00

abstract：: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. ...

journal_title：Ophthalmic genetics

authors： Nolen RM,Hufnagel RB,Friedman TB,Turriff AE,Brewer CC,Zalewski CK,King KA,Wafa TT,Griffith AJ,Brooks BP,Zein WM

更新日期：2020-10-01 00:00:00

abstract：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 defect...

journal_title：Ophthalmic genetics

authors： Leung KCP,Ko TCS

更新日期：2020-08-01 00:00:00

abstract：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...

journal_title：Ophthalmic genetics

authors： Geffrey AL,Geenen KR,Abati E,Greenstein SH,VanderVeen DK,Levy RL,Davidson SL,McGarrey MP,Thiele EA,Aronow ME

更新日期：2020-08-01 00:00:00

abstract：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...

journal_title：Ophthalmic genetics

authors： Kletke SN,Vincent A,Maynes JT,Elbaz U,Mireskandari K,Lam WC,Ali A

更新日期：2020-08-01 00:00:00

abstract：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 negati...

journal_title：Ophthalmic genetics

authors： Shah M,Shanks M,Packham E,Williams J,Haysmoore J,MacLaren RE,Németh AH,Clouston P,Downes SM

更新日期：2020-08-01 00:00:00

abstract：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 h...

journal_title：Ophthalmic genetics

authors： Tay SA,Vincent AL

更新日期：2020-08-01 00:00:00

abstract：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 presen...

journal_title：Ophthalmic genetics

authors： Shields M,Craig JE,Souzeau E,Gupta A

更新日期：2020-08-01 00:00:00

abstract：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 ...

journal_title：Ophthalmic genetics

authors： Sun X,Guo S

更新日期：2020-06-01 00:00:00

abstract：: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 monos...

journal_title：Ophthalmic genetics

authors： Hosono K,Kawase K,Kurata K,Niimi Y,Saitsu H,Minoshima S,Ohnishi H,Yamamoto T,Hikoya A,Tachibana N,Fukao T,Yamamoto T,Hotta Y

更新日期：2020-04-01 00:00:00

abstract：: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...

journal_title：Ophthalmic genetics

authors： Mack HG,Kowalski T,Lucattini A,Symons RA,Wicks I,Hall AJ

更新日期：2020-04-01 00:00:00

abstract：: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 (...

journal_title：Ophthalmic genetics

authors： Da Palma MM,Motta FL,Takitani GEDS,Salles MV,Lima LH,Ferraz Sallum JM

更新日期：2020-04-01 00:00:00

abstract：:Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineo...

journal_title：Ophthalmic genetics

authors： Khan R,Shabbir RMK,Raza I,Abdullah U,Naeem MA,Ahmed A,Malik S,Hu Z,Xia K

更新日期：2020-02-01 00:00:00

abstract：:Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part of a syndrome in one-third of cases. O...

journal_title：Ophthalmic genetics

authors： Mameesh MM,Al-Kindy A,Al-Yahyai M,Ganesh A

更新日期：2019-12-01 00:00:00

abstract：:Retinitis Pigmentosa (RP) is a major cause of heritable human blindness with a high genetic heterogeneity. It is characterized by the initial degeneration of rod photoreceptors followed by cone photoreceptors. RP is also a prominent reason of visual impairment, by a global prevalence of 1:4000. RP is usually specified...

journal_title：Ophthalmic genetics

authors： Salmaninejad A,Motaee J,Farjami M,Alimardani M,Esmaeilie A,Pasdar A

更新日期：2019-10-01 00:00:00

abstract：:Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular sparing and a number of other systemic abnormalities.Purpose: We present a patient with a phenotype dominated by retinal dystrophy and macular cysts as a result of...

journal_title：Ophthalmic genetics

authors： Zhao Y,Coussa RG,DeBenedictis MJM,Traboulsi EI

更新日期：2019-10-01 00:00:00

abstract：:When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those see...

journal_title：Ophthalmic genetics

authors： Kisilevsky E,Kohly RP,Margolin EA

更新日期：2019-10-01 00:00:00

abstract：:Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies, but few studies have assessed their efficacy in children. Material...

journal_title：Ophthalmic genetics

authors： Scruggs BA,Chen CV,Pfeifer W,Wiley JS,Wang K,Drack AV

更新日期：2019-08-01 00:00:00

abstract：:Mutations in sequestosome 1 (SQSTM1) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in SQSTM1 was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cereb...

journal_title：Ophthalmic genetics

authors： Vedartham V,Sundaram S,Nair SS,Ganapathy A,Mannan A,Menon R

更新日期：2019-08-01 00:00:00

abstract：:Background: The extensive phenotypic heterogeneity of monogenic diseases can be largely traced to intragenic variation; however, recent advances in clinical detection and gene sequencing have uncovered the emerging role of non-allelic variation (i.e. genetic trans-modifiers) in shaping disease phenotypes. Identifying ...

journal_title：Ophthalmic genetics

authors： Lee W,Paavo M,Zernant J,Stong N,Laurente Z,Bearelly S,Nagasaki T,Tsang SH,Goldstein DB,Allikmets R

更新日期：2019-08-01 00:00:00

abstract：:Purposes: To describe the long-term follow-up of a patient affected by Pseudoxanthoma Elasticum (PXE) and acquired macular vitelliform lesions in both eyes. Material and methods: Case report Results: We reported the 9-year follow-up of a patient affected by PXE. We described the onset and the resolution of the vitelli...

journal_title：Ophthalmic genetics

authors： Murro V,Mucciolo DP,Giorgio D,Sodi A,Boraldi F,Quaglino D,Virgili G,Rizzo S

更新日期：2019-08-01 00:00:00

abstract：:Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptomatic patients has not been determined. This study sought to identify ...

journal_title：Ophthalmic genetics

authors： AlOwain M,Khalifa OA,Al Sahlawi Z,Hussein MH,Sulaiman RA,Al-Sayed M,Rahbeeni Z,Al-Hassnan Z,Al-Zaidan H,Nezzar H,Al Homoud I,Eldali A,Altonen B,Handoom BS,Mbekeani JN

更新日期：2019-08-01 00:00:00

abstract：:Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and foveoschisis in a consanguineous Spanish family. Methods: The study involved five family members, consisting of three siblings and their parents. All members underwent com...

journal_title：Ophthalmic genetics

authors： Morillo Sánchez MJ,Llavero Valero P,González-Del Pozo M,Ponte Zuñiga B,Antiñolo G,Ramos Jiménez M,Rodríguez De La Rúa Franch E

更新日期：2019-06-01 00:00:00

abstract：:Objectives: Optic neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. However, it can be associated with various causes (demyelinating lesions, autoimmune disorders, infectious and inflammatory conditions). Inflammatory demyelinating disorder of the optic nerve can be associated wi...

journal_title：Ophthalmic genetics

authors： Gedvilaite G,Vilkeviciute A,Kriauciuniene L,Asmoniene V,Liutkeviciene R

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Age-related cataract (ARC) is profoundly associated with oxidative stress. Iron plays a pivotal role in generating oxidative stress and promoting deleterious irreversible damage to the macromolecules. Divalent metal transporter 1 (DMT1) mediates the uptake of iron into the cell. Aberrant transcript expressio...

journal_title：Ophthalmic genetics

authors： Sankaranarayanan R,Vidya NG,Vasavada AR

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Nuclear hormone receptor gene, NR2E3, plays a critical role in retinogenesis and determination of the rod photoreceptor phenotype. Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod d...

journal_title：Ophthalmic genetics

authors： Cehajic-Kapetanovic J,Cottriall CL,Jolly JK,Shanks M,Clouston P,Charbel Issa P,MacLaren RE

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS:We conducted a retrospective case series study of patients diagnosed with PCARP and genetic tes...

journal_title：Ophthalmic genetics

authors： Lee J,Scanga HL,Dansingani KK,Taubenslag KJ,Zlotcavitch L,Chauhan BK,Sylvester CL,Morton DH,Nischal KK

更新日期：2018-12-01 00:00:00

abstract：PURPOSE:Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this report is to highlight the initial presentation of a girl with early-onset retinal dystrophy and chronic dermatitis who was found to have an undiagnosed congenit...

journal_title：Ophthalmic genetics

authors： Khan AO

更新日期：2018-10-01 00:00:00

abstract：:Ligneous conjunctivitis is an uncommon and recurrent type of chronic conjunctivitis. A prevalent cause of this disease is a Plasminogen deficiency, resulting from recessive mutations in the human encoding plasminogen (PLG) gene. This deficiency affects the conjunctiva and also other mucous membranes. Only few hundred ...

journal_title：Ophthalmic genetics

authors： Raimann R,Moya R,Anguita R,Kobus R,Pérez M,Gonzalez P

更新日期：2018-10-01 00:00:00

abstract：PURPOSE:to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations. METHODS:we retrospectively reviewed the clinical records and the molecular genetic data of arRP patients carrying mutations in the EYS gene. All the patients underwe...

journal_title：Ophthalmic genetics

authors： Mucciolo DP,Sodi A,Passerini I,Murro V,Cipollini F,Borg I,Pelo E,Contini E,Virgili G,Rizzo S

更新日期：2018-10-01 00:00:00

abstract：BACKGROUND:To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. MATERIALS AND METHODS:Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total ...

journal_title：Ophthalmic genetics

authors： Zhang N,Wang J,Liu S,Liu M,Jiang F

更新日期：2018-08-01 00:00:00

abstract：OBJECTIVE:This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS:A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct seque...

journal_title：Ophthalmic genetics

authors： Alfano G,Waseem NH,Webster AR,Bhattacharya SS

更新日期：2018-08-01 00:00:00

abstract：BACKGROUND:Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansion...

journal_title：Ophthalmic genetics

authors： Rao BS,Ansar S,Arokiasamy T,Sudhir RR,Umashankar V,Rajagopal R,Soumittra N

更新日期：2018-08-01 00:00:00

abstract：BACKGROUND:Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and mi...

journal_title：Ophthalmic genetics

authors： Vidya NG,Rajkumar S,Vasavada AR

更新日期：2018-06-01 00:00:00

abstract：PURPOSE:Retinoblastoma (Rb) tumor recurrence in the papillary or macular region is a threat to life and visual prognosis respectively, making early detection indispensable. This study demonstrates the value of optical coherence tomography (OCT) in the early detection of subclinical tumor recurrence. METHODS:Since June...

journal_title：Ophthalmic genetics

authors： Gaillard MC,Houghton S,Stathopoulos C,Munier FL

更新日期：2018-06-01 00:00:00