[Cataract surgery and the small eye: relative anterior microphthalmos, high hyperopia and nanophthalmos].
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ABSTRACT:
SUBMITTER: Auffarth GU
PROVIDER: S-EPMC8763755 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:ObjectiveTo describe the prevalence and phenotypic characteristics of small eyes in the European Prospective Investigation of Cancer (EPIC)-Norfolk Eye Study.DesignCommunity cross-sectional study.SettingEast England population (Norwich, Norfolk and surrounding area).Participants8033 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.Outcome measuresPrevalence of small eyes, proportion with visual impairment, demographic and biometric factors.ResultsNinety-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.ConclusionsThe 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
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
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
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
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
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
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
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
Project description:Purpose. To compare pain scores between first-eye and second-eye cataract surgery and to determine the affecting factors. Methods. 106 first-eye and 53 second-eye cataract surgery patients (mean age: 67 ± 13 and 69 ± 10 years, resp.) were enrolled. The patients completed simplified State-Trait Anxiety Inventory and visual analog scale (VAS) for anxiety questionnaires before surgery, and VAS for pain and Wong-Baker Faces Pain Rating Scale questionnaires after surgery. Blood pressure (BP) and heart rate (HR) were recorded perioperatively. Results. A greater proportion of patients who underwent second-eye surgery reported intraoperative pain compared with first-eye surgery patients (85% versus 35%, P < 0.001). The pain scores were higher in second-eye surgery, while the VAS anxiety score was lower in second-eye surgery. Moreover, 31 patients reported greater pain during second-eye surgery than their first one, with higher pain scores than other 22 patients (P = 0.032 and 0.003, resp.). The VAS pain score of these 31 patients was positively correlated with the differences between the intraoperative and postoperative diastolic BP, mean arterial pressure, and HR. Conclusions. Cataract patients were likely to have more pain during second-eye surgery, which may be related to lower preoperative anxiety. Monitoring perioperative BP and HR may help to identify patients with intraoperative pain.
| S-EPMC4434194 | biostudies-literature
Project description:PurposeTo evaluate the frequency and risk factors for persistent postsurgical pain (PPP) after cataract surgery, defined as mild or greater dry eye (DE)-like symptoms 6 months after surgery.MethodsThis single-center study included 86 individuals who underwent cataract surgery between June and October 2016 and had DE symptom information available 6 months after surgery. Patients were divided into 2 groups: controls were defined as those without DE symptoms 6 months after surgery (defined by a Dry Eye Questionnaire 5 (DEQ5) score <6), cases were defined as those with mild or greater DE-like symptoms 6 months after surgery (DEQ5 ≥6).ResultsMean age of the study population was 71 ± 8.6 years; 95% (n = 82) were men. DE-like symptoms were reported in 32% (n = 27) of individuals 6 months after cataract surgery; 10% (n = 8) reported severe symptoms (DEQ5 ≥12). Patients with DE-like symptoms after cataract extraction also had higher ocular pain scores and specific ocular complaints (ocular burning, sensitivity to wind and light) compared with controls with no symptoms. A diagnosis of nonocular pain increased the risk of DE-like symptoms after cataract surgery (odds ratio 4.4, 95% confidence interval 1.58-12.1, P = 0.005).ConclusionsMild or greater PPP occurred in approximately 1/3 of individuals after cataract surgery. Prevalence of severe PPP is in line with that of refractive surgery, dental implants, and genitourinary procedures.
| S-EPMC5991988 | biostudies-literature