Prevalence and risk factors for primary angle-closure disease spectrum: The Colombian glaucoma study

Purpose To estimate the prevalence and risk factors associated with the primary angle-closure disease spectrum in participants of the Colombian Glaucoma Study. Methods A cross-sectional study in subjects older than 50 years with a diagnosis of diabetes mellitus or/and systemic hypertension was conducted in Colombia to estimate glaucoma prevalence. This study included 1749 patients and classified them using gonioscopy into either open-angle or primary angle-closure disease spectrum groups. The patients in the primary angle-closure disease spectrum group were then subdivided into the following categories: primary angle-closure suspect, primary angle-closure, and primary angle-closure glaucoma. A logistic regression model was carried out to identify factors related to the primary angle-closure disease spectrum, including age, sex, height, and refraction. Results The prevalence of primary angle-closure disease spectrum was 19.3% (338) (95% CI: 17.5–21.2). The prevalence of primary angle-closure suspect, primary angle-closure, and primary angle-closure glaucoma was 8.0% (140) (95% CI: 6.8–9.4), 10.1% (176) (95% CI: 8.7–11.6), and 1.2% (22) (95% CI: 0.8–1.9), respectively. In the multivariate analysis, advanced age (+80 years), female sex, and high hyperopia ( p = 0.000, 0.021, and 0.001, respectively) were identified as independent factors related to the primary angle-closure disease spectrum. Conclusion A high prevalence of primary angle-closure disease spectrum was found in Colombian patients with a diagnosis of diabetes mellitus or/and systemic hypertension, especially primary angle-closure and primary angle-closure glaucoma. Age, female sex, and high hyperopia were identified as risk factors for the primary angle-closure disease spectrum.

Retinal and Choroidal Changes in Children with Moderate-to-High Hyperopia

Purpose. This study aimed to investigate the characteristics of retinal nerve fiber layer (RNFL) thickness, ganglion cell layer (GCL) thickness, and choroidal thickness in children with moderate-to-high hyperopia (MHH). Methods. This was a cross-sectional study that enrolled 53 children with MHH and 53 emmetropic children. Subjects with a spherical equivalent refraction (SER) of +4.0 D or higher were included in the MHH group, and subjects with SER between −1.0 D and +1.0 D were included in the emmetropic group. Ophthalmic examinations, including uncorrected visual acuity, cycloplegic refraction, slit-lamp examination, axial length, and swept-source optical coherence tomography (SS-OCT; DRI OCT Triton-1, Topcon, Tokyo, Japan), were performed. Results. The RNFL and GCL in the temporal and inferior quadrants in 1–3 mm of the macular fovea were thinner in the MHH group than in the emmetropic group (all P < 0.05 ). The MHH group also had a thicker choroidal thickness in all regions (all P < 0.05 ). The SER was independently correlated with the average choroidal thickness in the optic disc and fovea (coefficient = 4.853, P < 0.001 for the optic disc; coefficient = 5.523, P = 0.004 for the fovea), while axial length was negatively correlated with choroidal thickness (coefficient = −12.649, P < 0.001 ). Axial length was positively associated with RNFL and GCL thickness in the temporal quadrant in 1–3 mm of the macular fovea (coefficient = 0.966, P = 0.007 for RNFL and coefficient = 1.476, P = 0.011 for the macular fovea). Conclusion. Compared with emmetropic children, MMH children had greater choroidal thickness. The characteristics of the RNFL and GCL thickness in MMH children were different from those in emmetropic children.

Bilateral Helicoid Peri-papillary Sub-retinal Fibrosis Due to a Biallelic NR2E3 Mutation: Describing Variable Expressivity of a Single Genetic Mutation

Background: To describe different clinical presentations of NR2E3 (nuclear receptor subfamily 2, group E, member 3; OMIM 604485) recessive mutation in two families and within one family. Design: Interventional family study. Results: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. Parents and the only sibling had no pathologic finding in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In genetic investigation, a homozygous autosomal recessive mutation in NR2E3 gene was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up the patient for 3 years and no new lesion developed during this time period. The second case was a 13-year-old male child who was referred to retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in macula of his right eye. Genetic evaluation proved the same mutation in NR2E3 gene. Family history was remarkable for an uncle, an aunt and two cousins with night blindness. In retina examination, asymptomatic father of proband showed to have slight pallor of optic nerve head and arterial narrowing in both eyes. Conclusion: NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.

Disruption of Normal Refractive Development in Individuals with Ocular and Oculocutaneous Albinism

PurposeAlbinism is known to disrupt emmetropisation in animal models. However, it is not clear if the same effect is seen in humans. This study aimed to investigate the refractive profile in individual diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA) based on a large dataset.MethodsRequired data from 618 individuals (61% males and 39% females) diagnosed with albinism were exported from the eyeSmart electronic medical records of L V Prasad Eye Institute. Overall, there were 112 (18%) individuals diagnosed with OA and 506 (82%) with OCA. Based on the spherical equivalent refraction (SER), individuals were classified as emmetropes, myopes, and hyperopes.ResultsThe overall spherical equivalent refraction of the individuals ranged from -25.00D to +12.00D with median 0.25 (-2.00 to 2.25). The proportion of individuals with albinism (combined OA, OCA) having hyperopia and myopia (overall: N=282;46% vs. N=245;40%) were similar (p = 0.18), and the least were with emmetropia (overall: N=91;14%). Across all the age groups (0-10, 11-20, 21-30, > 30 years) the frequency of hyperopes and myopes were significantly higher (p<0.05) compared to emmetropes. Both high degrees of hyperopia and myopia were found in individual diagnosed with OA and OCA. Irrespective of the albinism type, with-the-rule (70%) astigmatism was the most prevalent compared to other types of astigmatism. The frequency of with-the-rule astigmatism was significantly high in the presence of nystagmus compared to individuals with no nystagmus in both OA (75 % vs 25%, p = 0.01) and OCA (77% vs 23 %, p = 0.014) group. Conclusion The presence of both high hyperopia and high myopia and very less numbers with emmetropia across all age groups indicates disrupted normal refractive development in individuals with albinism. With-the-rule astigmatism and nystagmus may result in meridional degradation of retinal image leading to impairment of normal emmetropisation process in individuals with albinism.

Prevalence of Complications in Eyes With Nanophthalmos or Microphthalmos: A Systematic Review and Meta-analysis

IntroductionMicrophthalmos and nanophthalmos are uncommon ocular conditions, whereby affected eyes have smaller dimensions compared to the normal population. Microphthalmos and nanophthalmos present several challenges to ophthalmologists; They have spontaneous and post-operative sequelae such as high hyperopia, angle-closure glaucoma, uveal effusion syndrome, and retinal detachment.This systematic review and meta-analysis intends to assess the prevalence of both the spontaneous complications associated with nanophthalmos and microphthalmos, as well as the post-surgical complications associated with nanophthalmos or microphthalmos. Methods and analysisArticles will be searched for, on four online databases: PubMed, EMBASE, Scopus and Web of Science. Two independent reviewers will identify the studies according to prespecified inclusion and exclusion criteria. Relevant data will be extracted and assessed for the risk of bias in each article. The data will then be pooled to determine the prevalence of complications among patients with microphthalmos and nanophthalmos. If any preventative measures are associated with lower risks of developing complications, these will be expressed as odds ratios.DiscussionAlthough nanophthalmos is an uncommon condition that affects the eye, its management and complications can be sight-threatening. Thus, it is important to counsel parents and patients correctly upon diagnosis and prior to any surgical intervention. This can only be done if the overall prevalence of complications is known.RegistrationThis systematic review has been submitted to PROSPERO for registration.

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

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.

Prospects for manipulating peripheral defocus in hyperopic children: a literature review

In recent years, the use of contact lenses (CL) in pediatric ophthalmology practice has become increasingly relevant. It is, on the one hand, associated with an increasing compliance with guidelines for using contact lenses and the improvement of lenses’ capabilities, on the other hand. Currently, the indications to contact lens wear in children are the same as for the adults, although with certain specific limitations. In addition, there is also a number of specific indications for using contact lenses in children. In this regard, the purpose of this review was to study the effect of using hyperopic defocus inducing CLs in young children with moderate and high hyperopia.Conflict of interest: Elena Yu. Markova and Alexander V. Myagkov, being members of the editorial board of the journal, were excluded from the process of peer review and making a decision on the acceptance of this article.