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 comprehensive eye examinations for best corrected visual acuity, axial length and refractive error, electroretinography (ERG), fundus photography, retinal fluorescein angiography (FA), and optical coherence tomography (OCT). Clinical exome sequencing of more than 6,000 clinically relevant genes (SureSelect Focused Exome, Agilent) was performed using the Illumina HiSeq 3000 system. Candidate variants were validated and segregated by Sanger sequencing. Results: The affected siblings had bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy, ERG, and FA results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer. Our data analysis pipeline identified a homozygous frameshift mutation in exon 5 of the membrane frizzled-related protein (MFRP) gene (c.498delC; p.Asn167Thrfs*25). Conclusion: Our study confirmed the association of PM with RP as an autosomal recessive syndrome. Although this has previously been described, it seems that there are some constant (i.e., PM and RP) and some variable features (i.e., optic nerve drusen and foveoschisis). The MFRP mutation has also been detected in other studies associating PM with RP. Analysis of a larger series of cases at the clinical and genetic levels would certainly help us to better understand the phenotype-genotype correlations of this syndrome.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Morillo Sánchez MJ,Llavero Valero P,González-Del Pozo M,Ponte Zuñiga B,Antiñolo G,Ramos Jiménez M,Rodríguez De La Rúa Franch Edoi
10.1080/13816810.2019.1633547subject
Has Abstractpub_date
2019-06-01 00:00:00pages
288-292issue
3eissn
1381-6810issn
1744-5094journal_volume
40pub_type
杂志文章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
doi:10.1080/13816810500229025
更新日期:2005-09-01 00:00:00
abstract:PURPOSE:To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. METHODS:This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of selected albinism (Tyrosi...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.907920
更新日期:2016-01-01 00:00:00
abstract:PURPOSE:To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. METHODS:The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NG...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.755552
更新日期:2013-12-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1547913
更新日期:2018-12-01 00:00:00
abstract:PURPOSE:To report two memorable clinical comorbid cases of Williams-Beuren syndrome (WBS) associated with keratoconus (KC). WBS is known to be an abnormal systemic development caused by a microdeletion of contiguous genes in chromosome 7q11.23, which includes the elastin gene. KC is currently suspected to have a geneti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.523038
更新日期:2010-12-01 00:00:00
abstract:PURPOSE:To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. METHODS AND DESIGN:Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using marke...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.22.4.241.2216
更新日期:2001-12-01 00:00:00
abstract:PURPOSE:To present a boy with unilateral duplication of the eye. METHOD:The case history is described from the first visit at birth to the age of 14 years. RESULTS:A review of the literature shows that this malformation is compatible with life although malformations of the brain and epilepsy have been reported in all...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810701209479
更新日期:2007-06-01 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
pub_type: 杂志文章
doi:10.3109/13816810.2014.886272
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina. MATERIALS AND METHODS:Herein we rep...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.886270
更新日期:2015-01-01 00:00:00
abstract:PURPOSE:The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS:A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. G...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.921314
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:A Chinese family with X-linked juvenile retinoschisis (XLRS) was identified. The purpose of this study was to identify genetic defects in this family and to investigate the visual function during the progression of the disease in the proband from childhood to adulthood. METHODS:The family history was collec...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.628359
更新日期:2012-06-01 00:00:00
abstract::Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male....
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802320209
更新日期:2008-12-01 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
pub_type: 杂志文章
doi:10.3109/13816819409098865
更新日期:1994-06-01 00:00:00
abstract:PURPOSE:To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS:Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven pat...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.3.149.2186
更新日期:1998-09-01 00:00:00
abstract:BACKGROUND:A number of mutations in the VSX1 and SOD1 genes have been reported to be associated with keratoconus (KC), however the results from different studies are controversial. In this study, we conducted the genotyping of common polymorphisms [VSX1: D144E, H244R, R166W, G160D; SOD1: intronic 7-base deletion (c.169...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2013.843712
更新日期:2015-01-01 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
pub_type: 杂志文章
doi:10.3109/13816811003767136
更新日期:2010-06-01 00:00:00
abstract::Etiological investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary freckling, and brain MRI changes consistent with a hamartoma. In light of the present case, ophthalmic artery occlusion may be...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.19.2.87.2322
更新日期:1998-06-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1547912
更新日期:2019-02-01 00:00:00
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
doi:10.3109/13816819509057855
更新日期:1995-12-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2019.1622022
更新日期:2019-06-01 00:00:00
abstract:PURPOSE:To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP). METHODS:Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed. RESULTS/CONCLUSIONS:The mother was diagnosed w...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810701663535
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVE:To describe the clinical and electrophysiological characterization of four family members from three generations who have X-linked infantile periodic alternating nystagmus (XIPAN). METHODS:Complete clinical ophthalmological evaluation, pedigree analysis, electroretinograms (ERG), eye movement recordings (EMR...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810590968014
更新日期:2005-06-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1436183
更新日期:2018-06-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2020.1786843
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation. METHODS:Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.599356
更新日期:2012-03-01 00:00:00
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
doi:10.3109/13816810.2010.486774
更新日期:2010-09-01 00:00:00
abstract:PURPOSE:Glaucoma is the second leading cause of blindness. In India, approximately 1.5 million people are blind due to glaucoma. Mutations in the MYOC gene located at the GLC1A locus on chromosome 1q21-q31 have been found in patients with juvenile-onset primary open-angle glaucoma (J-POAG). The purpose of the present s...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.25.1.11.28995
更新日期:2004-03-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1474367
更新日期:2018-08-01 00:00:00
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
pub_type: 杂志文章
doi:10.1080/13816810.2020.1867755
更新日期:2021-01-03 00:00:00
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
doi:10.1080/13816810.2016.1253104
更新日期:2017-09-01 00:00:00