Hunter syndrome (MPS II-B): a report of bilateral vitreous floaters and maculopathy.


PURPOSE:To describe bilateral vitreous opacities and maculopathy in a child with Hunter syndrome. METHODS:A case involving fundus examination, photography, and optical coherence tomography. Medline and Embase searches found no reference to vitreous or macular abnormalities in Hunter syndrome. RESULTS:A two-year-old boy with Hunter syndrome was found to have asymmetric, bilateral, free-floating vitreous opacities that remained stable over six years. Amblyopia and exotropia improved with occlusion therapy and spectacle correction. Visual acuity decreased when bilateral maculopathy supervened. CONCLUSION:Screening for vitreous abnormalities and maculopathy may be important in diagnosing, treating, and explaining visual loss in Hunter syndrome.


Ophthalmic Genet


Ophthalmic genetics


Anawis MA




Has Abstract


2006-06-01 00:00:00














  • Association between diabetic retinopathy and interleukin-related gene polymorphisms: a machine learning aided meta-analysis.

    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

    pub_type: 杂志文章


    authors: Sun X,Guo S

    更新日期:2020-06-01 00:00:00

  • A new syndrome associated with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and mild facial dysmorphism.

    abstract::A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the l...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Guran S,Torun D,Mutlu FM,Uysal Y,Ugurel MS,Bahce M

    更新日期:2009-09-01 00:00:00

  • Phenotype variations within a choroideremia family lacking the entire CHM gene.

    abstract::A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electroretinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerab...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Ponjavic V,Abrahamson M,Andréasson S,Van Bokhoven H,Cremers FP,Ehinger B,Fex G

    更新日期:1995-12-01 00:00:00

  • Disruption in Bruch membrane in patients with Stargardt disease.

    abstract:PURPOSE:To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). METHODS:Two patients with STGD1 were referred to our clinic for further evaluation. Fundu...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Park SP,Chang S,Allikmets R,Smith RT,Burke TR,Gregory-Roberts E,Tsang SH

    更新日期:2012-03-01 00:00:00

  • Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.

    abstract:OBJECTIVES:Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Viana MM,Frasson M,Galvão H,Leão LL,Stofanko M,Gonçalves-Dornelas H,da Silva Cunha P,Burle de Aguiar MJ

    更新日期:2015-01-01 00:00:00

  • Cilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele.

    abstract:BACKGROUND:Cilioretinal arteries (CAs) represent enlargements of microscopic and early established collaterals formed via vasculogenesis between choroidal and retinal circulations. We aimed to investigate whether genetic tendency to thrombosis due to well-known gene polymorphisms may induce CA vasculogenesis in embryon...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Yilmaz S,Ardagil A,Akalin I,Altinel MG,Dag Y,Kurum E,Koyun E,Ari Yaylali S,Bayramlar H

    更新日期:2017-09-01 00:00:00

  • Autosomal dominant retinitis pigmentosa. A mutation in codon 181 (Glu-->Lys) of the rhodopsin gene in a Japanese family.

    abstract::The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad RP) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Saga M,Mashima Y,Akeo K,Oguchi Y,Kudoh J,Shimizu N

    更新日期:1994-06-01 00:00:00

  • High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

    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

    pub_type: 杂志文章


    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

  • A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.

    abstract::Because mutations in the peripherin/RDS gene have been found in retinal dystrophies involving the macula, we examined various types of macular dystrophies from southern France to characterize sequence variations that may be associated with these conditions. DNA sequence analysis of the full coding and flanking regions...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Bareil C,Hamel C,Arnaud B,Demaille J,Claustres M

    更新日期:1997-09-01 00:00:00

  • Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.

    abstract:PURPOSE:The crystallin family of proteins comprise the main structural proteins of the vertebrate lens and have been classified into alpha-, beta-, and gamma- families. Several of the beta-crystallin proteins have been detected in the retina where they are each localized to different compartments of rod and cone photor...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Sturgill GM,Bala E,Yaniglos SS,Peachey NS,Hagstrom SA

    更新日期:2010-09-01 00:00:00

  • Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.

    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

    pub_type: 杂志文章


    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

  • Angioid streaks associated with abetalipoproteinemia.

    abstract::Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Gorin MB,Paul TO,Rader DJ

    更新日期:1994-09-01 00:00:00

  • PROM1 gene variations in Brazilian patients with macular dystrophy.

    abstract:BACKGROUND:Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE:The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystroph...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Salles MV,Motta FL,Dias da Silva E,Varela Lima Teixeira P,Antunes Costa K,Filippelli-Silva R,Martin R,Pesquero JB,Ferraz Sallum JM

    更新日期:2017-01-01 00:00:00

  • Juvenile cataract in association with tuberous sclerosis complex.

    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

    pub_type: 杂志文章


    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

  • Long-term 12 year follow-up of X-linked congenital retinoschisis.

    abstract:PURPOSE:To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood. METHODS:Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Kjellström S,Vijayasarathy C,Ponjavic V,Sieving PA,Andréasson S

    更新日期:2010-09-01 00:00:00

  • Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).

    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

    pub_type: 杂志文章


    authors: Khan AO

    更新日期:2018-10-01 00:00:00

  • The frequency of the H402 allele of CFH and its involvement with age-related maculopathy in an aged Black African Xhosa population.

    abstract::The H402 allele of the CFH gene is an established risk factor for age-related maculopathy (ARMD) in Caucasians, accounting for approximately 60% of the genetic risk at the population level. In general, the advanced forms of ARMD are rare in Black populations in Africa, as well as Black populations who have lived for g...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Ziskind A,Bardien S,van der Merwe L,Webster AR

    更新日期:2008-09-01 00:00:00

  • Dilated and tortuous retinal vessels as a sign of Cantu syndrome.

    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

    pub_type: 杂志文章


    authors: Kisilevsky E,Kohly RP,Margolin EA

    更新日期:2019-10-01 00:00:00

  • Allelic and phenotypic heterogeneity in ABCA4 mutations.

    abstract::Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests....

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章,评审


    authors: Burke TR,Tsang SH

    更新日期:2011-09-01 00:00:00

  • Stickler's syndrome associated with congenital glaucoma.

    abstract::A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Ziakas NG,Ramsay AS,Lynch SA,Clarke MP

    更新日期:1998-03-01 00:00:00

  • Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

    abstract:PURPOSE:To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene. METHODS:The genotype was determined by direct sequence analysis of the individual exons of VMD2. Nine members of a family with BMD were examined. The examination includ...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Eksandh L,Bakall B,Bauer B,Wadelius C,Andréasson S

    更新日期:2001-06-01 00:00:00

  • Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome.

    abstract::Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings ass...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Jogiya A,Sandy C

    更新日期:2005-09-01 00:00:00

  • Association of combined cigarette smoking and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: A meta-analysis.

    abstract:PURPOSE:The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章,meta分析,评审


    authors: Jabbarpoor Bonyadi MH,Yaseri M,Bonyadi M,Soheilian M,Nikkhah H

    更新日期:2017-07-01 00:00:00

  • Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease.

    abstract::Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital di...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Kiratli H,Tümer B,Kadayifçilar S

    更新日期:2000-09-01 00:00:00

  • Laboratory methods in ophthalmic genetics: obtaining DNA from patients.

    abstract::DNA samples are the fundamental research substrate in genetics. Although methodology and cost-effectiveness in molecular biology have improved dramatically, collecting biological samples and extracting DNA continue to be expensive and time-consuming steps of genetic research. This article reviews the issues surroundin...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章,评审


    authors: Dickinson JL,Sale MM,Craig JE,Mackey DA

    更新日期:2001-03-01 00:00:00

  • Optic neuropathy in classical methylmalonic acidemia.

    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

    pub_type: 杂志文章


    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

  • Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.

    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

    pub_type: 杂志文章


    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

  • Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

    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

    pub_type: 杂志文章


    authors: Vidya NG,Rajkumar S,Vasavada AR

    更新日期:2018-06-01 00:00:00

  • Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.

    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

    pub_type: 杂志文章


    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

  • Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.

    abstract:PURPOSE:To characterize a Chinese family with inherited retinitis pigmentosa (RP). METHODS:Linkage studies and haplotype analysis were used for gene mapping, and single-strand conformation polymorphism (SSCP) analysis and direct DNA sequence analysis were used for identifying the responsible mutation. RESULTS:Pedigre...

    journal_title:Ophthalmic genetics

    pub_type: 杂志文章


    authors: Zhao K,Wang L,Wang L,Wang L,Zhang Q,Wang Q

    更新日期:2001-09-01 00:00:00