Bilateral complete isolated cryptophthalmos: a case report.

abstract：PURPOSE:Genetic factors are shown to have a role in the development of primary open-angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of Rho-kinase (ROCK) genes on the risk of POAG in a Turkish population. METHODS:Genomic DNA was extracted from leukocytes of the periphe...

journal_title：Ophthalmic genetics

authors： Demiryürek S,Okumus S,Bozgeyik İ,Oztuzcu S,Coskun E,Mat E,Durucu E,Tatar MG,Erbagci İ,Gürler B,Demiryürek AT

更新日期：2016-01-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. METHODS:We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and re...

journal_title：Ophthalmic genetics

authors： Savige J,Wang Y,Crawford A,Smith J,Symons A,Mack H,Nicholls K,Wilson D,Colville D

更新日期：2017-05-01 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：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：: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

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

更新日期：1997-09-01 00:00:00

abstract：:Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of...

journal_title：Ophthalmic genetics

authors： Ata-ur-Rasheed M,Vemuganti Gk,Honavar Sg,Ahmed N,Hasnain Se,Kannabiran C

更新日期：2002-06-01 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：:A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small...

journal_title：Ophthalmic genetics

authors： Flaherty MP,Balachandran C,Jamieson R,Engle EC

更新日期：2009-06-01 00:00:00

abstract：OBJECTIVE:To characterize visual function in defined genotypes including siblings with Usher syndrome. METHODS:Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fiel...

journal_title：Ophthalmic genetics

authors： Malm E,Ponjavic V,Möller C,Kimberling WJ,Andréasson S

更新日期：2011-06-01 00:00:00

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

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

更新日期：2001-03-01 00:00:00

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

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

更新日期：2008-09-01 00:00:00

abstract：BACKGROUND:Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) a...

journal_title：Ophthalmic genetics

authors： Molasy M,Walczak A,Przybyłowska-Sygut K,Zaleska-Żmijewska A,Szaflik J,Szaflik JP,Majsterek I

更新日期：2018-04-01 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：:Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two sibli...

journal_title：Ophthalmic genetics

authors： Keilhauer CN,Meigen T,Stöhr H,Weber BH

更新日期：2006-12-01 00:00:00

abstract：BACKGROUND:H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabet...

journal_title：Ophthalmic genetics

authors： Molho-Pessach V,Mechoulam H,Siam R,Babay S,Ramot Y,Zlotogorski A

更新日期：2015-01-01 00:00:00

abstract：:Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagn...

journal_title：Ophthalmic genetics

authors： Traboulsi EI,Maumenee IH

更新日期：1995-03-01 00:00:00

abstract：:A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preau...

journal_title：Ophthalmic genetics

authors： Goldschmidt E,Jacobsen N

更新日期：2010-06-01 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: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：:Patients with a deletion at the terminal end of chromosome 6p can present with a variety of ophthalmological and systemic malformations. In this paper we present two patients with this chromosomal anomaly and similar anterior eye-segment abnormalities. We also give an overview of the literature on the ophthalmological...

journal_title：Ophthalmic genetics

authors： Cornelis T,Rayyan M,Devriendt K,Casteels I

更新日期：2015-06-01 00:00:00

abstract：:We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod dysfunction becoming apparent at more advanced stages of the disease. In ...

journal_title：Ophthalmic genetics

authors： Van Ghelue M,Eriksen HL,Ponjavic V,Fagerheim T,Andréasson S,Forsman-Semb K,Sandgren O,Holmgren G,Tranebjaerg L

更新日期：2000-12-01 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：: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: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：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：PURPOSE:The study was undertaken to investigate whether anterior segment findings are different in children with Down syndrome (DS) to normal children and to focus on its clinical significance. METHODS:A cross-sectional case control study was conducted in a total of 38 children with DS and 42 healthy children. This is...

journal_title：Ophthalmic genetics

authors： Aslan L,Aslankurt M,Aksoy A,Gümüşalan Y

更新日期：2014-06-01 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：: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

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

更新日期：1994-06-01 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：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

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