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 headaches and swollen optic nerve heads, review of medical notes and ophthalmic imaging, with retinal photography, fundus autofluorescence, and OCT retinal nerve fibre layer analysis. RESULTS:We present findings in a 15 year old girl with Senior-Løken syndrome associated with compound heterozygous mutations in the SDCCAG8 gene, who initially presented with a retinal dystrophy, and subsequent renal failure requiring renal transplantation and immunosuppression. Four and a half years later, she presented with headaches, reduced vision and clinical findings of papilloedema. Cerebrospinal fluid analysis revealed a high opening pressure of 37cmH20 and neuroimaging was otherwise unremarkable. Treatment with a reduced dose of oral acetazolamide resulted in symptomatic relief of headaches, and resolution of optic nerve swelling. CONCLUSION:The association of intracranial hypertension in a ciliopathy is a rare occurrence. The aetiology of intracranial hypertension in this case is likely multi-factorial, due to renal transplantation, post-renal transplant medications and/ or weight gain. With evidence of cilia involvement in the central nervous system, ciliary dysfunction may contribute to intracranial hypertension, and should be considered in these patients presenting with headaches. Diagnosis may be difficult with advanced retinal degeneration and baseline retinal nerve fibre layer thinning. Treatment requires careful monitoring of renal function.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Tay SA,Vincent ALdoi
10.1080/13816810.2020.1766086subject
Has Abstractpub_date
2020-08-01 00:00:00pages
354-357issue
4eissn
1381-6810issn
1744-5094journal_volume
41pub_type
杂志文章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
doi:
更新日期:2000-09-01 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
pub_type: 杂志文章
doi:10.1080/13816810802697473
更新日期:2009-06-01 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
pub_type: 杂志文章
doi:10.1080/13816810802216472
更新日期:2008-09-01 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
pub_type: 杂志文章,评审
doi:10.1080/13816810.2019.1675178
更新日期:2019-10-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1484927
更新日期:2018-08-01 00:00:00
abstract:PURPOSE:To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS:Clinical data were recorded for five patients of the 14 family members. Genetic linkage was carried out using Affymetrix 250 K Nspl SNP array followed by sequencing. RESULTS:The ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2013.763995
更新日期:2014-03-01 00:00:00
abstract:PURPOSE:To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma. DESIGN:Case report. METHODS:A 6-year-old girl underwent genetic testing after developing unilateral retinoblastoma subsequent to treatment (surgery, chemotherapy, and stem-cell rescue) for a...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.719058
更新日期:2013-03-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2020.1855664
更新日期:2020-12-10 00:00:00
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
doi:10.1076/opge.19.1.55.2177
更新日期:1998-03-01 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::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
doi:10.1080/13816810902988772
更新日期:2009-09-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1509351
更新日期:2018-10-01 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::The autoinflammatory syndromes are rare inherited disorders characterized by recurrent attacks of multi-system inflammation caused by genetic mutations that result in abnormal upregulation of key innate immune mediators. The term autoinflammatory syndromes includes a broad variety of disorders, including cryopyrin-ass...
journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2012.695421
更新日期:2012-12-01 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
pub_type: 杂志文章
doi:10.3109/13816810.2014.886272
更新日期:2015-01-01 00:00:00
abstract::The electro-oculogram (EOG) was studied in 156 normal patients, 103 patients with Best's disease, and 52 patients with dominant cystoid macular dystrophy (DCMD). Statistical analysis was performed by comparing the distribution of Lp/Dt ratios of the groups. Strength of association between Lp/Dt ratio and age was studi...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819609057112
更新日期:1996-09-01 00:00:00
abstract:PURPOSE:To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. METHODS:A complete ophthalmic eva...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819709041434
更新日期:1997-12-01 00:00:00
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
doi:10.3109/13816810.2011.628358
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP). METHODS:Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The preva...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2017.1301964
更新日期:2017-12-01 00:00:00
abstract::A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family ma...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810490902684
更新日期:2004-12-01 00:00:00
abstract:PURPOSE:To identify genetic variants that predispose to type 2 diabetes (T2D) with cataract. PATIENTS AND METHODS:Genome-wide association study (GWAS) of T2D patients with cataract, as graded by Lens Opacities Classification System (LOCS). A total of 109 T2D patients with cataract score equal to or above 10 designated...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.736590
更新日期:2013-03-01 00:00:00
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
doi:10.3109/13816819409057843
更新日期:1994-09-01 00:00:00
abstract::The identification by fundus examination of those females carrying an X-linked retinitis pigmentosa (RP) gene can reportedly be as high as 87%. In genetic counselling sessions with young females with a 50% risk of being a carrier who wished to know their status, it has not been possible to achieve such a level of succ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819509059970
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. METHODS:A female affected by Alström synd...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1094493
更新日期:2016-12-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2018.1502791
更新日期:2018-10-01 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
pub_type: 杂志文章
doi:10.3109/13816819709057126
更新日期:1997-09-01 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
pub_type: 杂志文章
doi:10.1080/13816810.2019.1634740
更新日期:2019-08-01 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: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: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
doi:10.1080/13816810.2018.1436184
更新日期:2018-06-01 00:00:00