Browse
Submit Data
Databases
API
Help

Dataset Information

41 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

[Cataract surgery and the small eye: relative anterior microphthalmos, high hyperopia and nanophthalmos].

ABSTRACT: Relative anterior microphthalmos, nanophthalmos and high-grade hyperopia are small eyes with different characteristic morphological relationships between the anterior segment and axis length. This article discusses the intraoperative challenges and surgical approaches to solutions for cataract operations in patients with one of the three named morphological alterations. Additionally, the article addresses possible comorbidities including glaucoma and preoperative planning.

SUBMITTER: Auffarth GU

PROVIDER: S-EPMC8763755 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

[Cataract surgery and the small eye: relative anterior microphthalmos, high hyperopia and nanophthalmos].

Auffarth Gerd U GU Naujokaitis Tadas T Hammer Maximilian M

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 20210827 1

Relative anterior microphthalmos, nanophthalmos and high-grade hyperopia are small eyes with different characteristic morphological relationships between the anterior segment and axis length. This article discusses the intraoperative challenges and surgical approaches to solutions for cataract operations in patients with one of the three named morphological alterations. Additionally, the article addresses possible comorbidities including glaucoma and preoperative planning. ...[more]

PMID: 34453190

Similar Datasets

The small eye phenotype in the EPIC-Norfolk eye study: prevalence and visual impairment in microphthalmos and nanophthalmos.

Project description:To describe the prevalence and phenotypic characteristics of small eyes in the European Prospective Investigation of Cancer (EPIC)-Norfolk Eye Study. Community cross-sectional study. East England population (Norwich, Norfolk and surrounding area). 8033 participants aged 48-92 years old from the EPIC-Norfolk Eye Study, Norfolk, UK with axial length measurements. Participants underwent a standardised ocular examination including visual acuity (LogMAR), ocular biometry, non-contact tonometry, autorefraction and fundal photography. A small eye phenotype was defined as a participant with one or both eyes with axial length of <21 mm. Prevalence of small eyes, proportion with visual impairment, demographic and biometric factors. Ninety-six participants (1.20%, 95% CI 0.98% to 1.46%) had an eye with axial length less than 21 mm, of which 74 (77%) were women. Prevalence values for shorter axial lengths were <20 mm: 0.27% (0.18% to 0.41%); <19 mm: 0.17% (0.11% to 0.29%); <18 mm: 0.14% (0.08% to 0.25%). Two participants (2.1%) had low vision (presenting visual acuity >0.48 LogMAR) and one participant was blind (>1.3 LogMAR). The prevalence of unilateral visual impairment was higher in participants with a small eye. Multiple logistic regression modelling showed presence of a small eye to be significantly associated with shorter height, lower body mass index, higher systolic blood pressure and lower intraocular pressure. The prevalence of people with small eyes is higher than previously thought. While small eyes were more common in women, this appears to be related to shorter height and lower body mass index. Participants with small eyes were more likely to be blind or to have unilateral visual impairment.

| S-EPMC3731707 | biostudies-literature

Relative anterior microphthalmos in oculodentodigital dysplasia.

Project description:Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.

| S-EPMC5819136 | biostudies-literature

Morphological features of anterior segment: factors influencing intraocular pressure after cataract surgery in nanophthalmos.

Project description:PurposeTo investigate the anterior segment in nanophthalmic eyes and their association with intraocular pressure after cataract surgery.MethodsThirty-two nanophthalmic eyes (axial length [AL] < 18.5 mm) in 18 patients and 35 normal eyes (21 ≤ AL ≤ 24.5 mm) in 35 controls who had undergone uneventful cataract surgery were included. Swept-source optical coherence tomography was used to compare the anterior segment structures between the two groups. The associations between the anterior segment characteristics of nanophthalmic eyes and postoperative intraocular pressure (IOP) were also investigated.ResultsThe IOP-lowering effect of cataract surgery was remarkably insufficient in nanophthalmic eyes. Peripheral anterior synechiae (PAS) were observed in 56% (18/32) of nanophthalmic eyes, and a characteristic boomerang-shaped iris was observed in 28% (9/32). The anterior surface of the iris seemed "smoother" in nanophthalmic eyes than in normal eyes. Schlemm's canal (SC) diameter, SC area, trabecular meshwork (TM) thickness, TM width, and TM area were generally smaller in the nanophthalmic eyes. Younger age, higher preoperative IOP, broader PAS, and smaller SC area were main contributors to higher postoperative IOP. AL and SC diameter may also be of great importance in IOP prediction in patients without glaucoma surgery and PAS.ConclusionsThe morphological features of the anterior segment in nanophthalmic eyes are significantly different from those of normal eyes. Influencing factors such as age, AL, preoperative IOP, extent of PAS, SC and TM size could all be prognostic for IOP after cataract surgery in nanophthalmic eyes.Trial registrationClinicalTrails.gov, Trial registration number: NCT02182921, Registered 8 July 2014.

| S-EPMC7495875 | biostudies-literature

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.

Project description:Purpose:Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure glaucoma. We investigated the genetic cause of nanophthalmos and high hyperopia in an autosomal dominant kindred. Methods:A proband with short axial length, high hyperopia, and dextrocardia was subjected to exome sequencing. Human and rodent gene expression data sets were used to investigate the expression of relevant genes. Results:We identified a segregating heterozygous frameshift variant at the 3' end of the penultimate exon of MYRF. Using Myc-MYRF chromatin immunoprecipitation data from rat oligodendrocytes, MYRF was found to bind immediately upstream of the transcriptional start site of Tmem98, a gene that itself has been implicated in autosomal dominant nanophthalmos. MYRF and TMEM98 were found to be expressed in the human retina, with a similar pattern of expression across several dissected human eye tissues. Conclusions:C-terminal variants in MYRF, which are expected to escape nonsense-mediated decay, represent a rare cause of autosomal dominant nanophthalmos with or without dextrocardia or congenital diaphragmatic hernia.

| S-EPMC6817736 | biostudies-literature

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.

Project description:Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyperopia (≥ + 5.50 spherical equivalent) has not been fully elucidated. We collected probands and families (n = 56) with high hyperopia or nanophthalmos (≤ 21.0 mm axial length). Of 53 families that passed quality control, plausible genetic diagnoses were identified in 10/53 (18.8%) by high-throughput panel or pooled exome sequencing. These include 1 TMEM98 family (1.9%), 5 MFRP families (9.4%), and 4 PRSS56 families (7.5%), with 4 additional families having single allelic hits in MFRP or PRSS56 (7.5%). A novel deleterious TMEM98 variant (NM_015544.3, c.602G>C, p.(Arg201Pro)) segregated with disease in 4 affected members of a family. Multiple novel missense and frameshift variants in MFRP and PRSS56 were identified. PRSS56 families were more likely to have choroidal folds than other solved families, while MFRP families were more likely to have retinal degeneration. Together, this study defines the prevalence of nanophthalmos gene variants in high hyperopia and nanophthalmos and indicates that a large fraction of cases remain outside of single gene coding sequences.

| S-EPMC7672112 | biostudies-literature

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.

Project description:Nanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as indicated by short axial length, high hyperopia (severe farsightedness), high lens/eye volume ratio, and a high incidence of angle-closure glaucoma. We performed clinical and genetic evaluations of members of a large family in which nanophthalmos is transmitted in an autosomal dominant manner. Ocular examinations of 22 affected family members revealed high hyperopia (range +7.25-+13.00 diopters; mean +9.88 diopters) and short axial length (range 17.55-19.28 mm; mean 18.13 mm). Twelve affected family members had angle-closure glaucoma or occludable anterior-chamber angles. Linkage analysis of a genome scan demonstrated highly significant evidence that nanophthalmos in this family is the result of a defect in a previously unidentified locus (NNO1) on chromosome 11. The gene was localized to a 14.7-cM interval between D11S905 and D11S987, with a maximum LOD score of 5. 92 at a recombination fraction of .00 for marker D11S903 and a multipoint maximum LOD score of 6.31 for marker D11S1313. NNO1 is the first human locus associated with nanophthalmos or with an angle-closure glaucoma phenotype, and the identification of the NNO1 locus is the first step toward the cloning of the gene. A cloned copy of the gene will enable examination of the relationship, if any, between nanophthalmos and less severe forms of hyperopia and between nanophthalmos and other conditions in which angle-closure glaucoma is a feature.

| S-EPMC1377551 | biostudies-other

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Project description:Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four PRSS56 families harbored the previously described c.1066dupC variant implicated in over half of all reported PRSS56 kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and higher hyperopia than those without, with recessive forms associated with the most extreme phenotypes. These findings detail the genetic architecture of nanophthalmos and posterior microphthalmos in a cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.

| S-EPMC7811993 | biostudies-literature

Femtosecond laser - Assisted cataract surgery in pediatric pyramidal anterior polar cataract.

Project description:PurposeThe purpose of this report is to describe the successful utilization of femtosecond laser assisted cataract surgery (FLACS) in a rare case of pyramidal anterior polar cataract in a female child.ObservationsThe patient is a 6 years old girl that presented to the cornea clinic with a unilateral pyramidal cataract that was deemed to be visually significant, and therefore required cataract extraction and intraocular lens implantation surgery. FLACS was proposed and mother consented to proceed with the surgery. The femtosecond laser technology enabled precise completion of a central capsulotomy around the protruding pyramidal capsular lesion.Conclusions and importanceconclusionVarious capsulorhexis techniques have been described and are used in pediatric cataracts including manual, can opener, vitrectorhexis, and laser, but none has become a standard. We propose the use of femtosecond laser for cataract extraction in cases of pediatric pyramidal cataracts, and hereby provide the first case report of such. The laser is a safe method for capsulorhexis construction and offers an additional advantage of intraoperative anterior segment OCT image guidance with visualization of the pyramidal lesion.

| S-EPMC7393470 | biostudies-literature

Postoperative complications and axial length growth after bilateral congenital cataract surgery: eyes with microphthalmos compared to a comparison group.

Project description:PurposeTo investigate the postoperative clinical outcomes and axial length (AL) growth of infants with congenital cataracts and microphthalmos following first-stage cataract surgery.DesignRetrospective case-control study.MethodsSetting: Single centre. Infants with congenital cataract that met the inclusion criteria were classified into two groups: the microphthalmos and comparison groups. All infants underwent a thorough ophthalmologic examination before surgery, and one week, 1 month, 3 months, and every 3 months after surgery.ResultsThis study enrolled 21 infants (42 eyes) in the microphthalmos group and 29 infants (58 eyes) in the comparison group. More glaucoma-related adverse events were observed in the microphthalmos group (7 eyes, 16.7%) than in the comparison group (0 eyes, 0%) (p < 0.001). At each subsequent follow-up, the comparison group had a greater AL than the microphthalmos group (all p < 0.001), and AL growth was significantly higher in the comparison group than in the microphthalmos group (all p = 0.035). Visual acuity improvement in the microphthalmos group was similar to that of the comparison group.ConclusionEarly surgical intervention improves visual function in infants with congenital cataracts and microphthalmos although with a higher incidence of glaucoma-related adverse events. After cataract removal, the AL growth of microphthalmic eyes is slower than that of normally developed eyes.

| S-EPMC11461963 | biostudies-literature

Customized incision cataract surgery: Astigmatism modulation techniques in manual small-incision cataract surgery.

Project description:Advanced instrumentation and intraocular lenses (IOL) allow great refractive and visual outcome control to permit excellent correction of refractive aberrations. Residual astigmatism can be modified to provide depth of focus using an appropriate incision in the steepest meridian in manual small-incision cataract surgery (MSICS). The authors describe the nomogram for surgically correcting astigmatism (SCA). This technique can handle preoperative astigmatism of about 2.25 DCyl with the standard incisions-straight incision of 5, 6, and 7 mm in length, the minimally curved frown incision, the frown incision, the frown incision with an accentuated frown, and the U incision placed on the steep axis in the superior or the temporal quadrant depending on the axis of pre-operative astigmatism.

| S-EPMC9907247 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data