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BMC Ophthalmology Oct 2023The aim of this study was to evaluate and summarize the developmental rules of the ocular anterior segment of neonates by means of wild-field digital imaging system.
PURPOSE
The aim of this study was to evaluate and summarize the developmental rules of the ocular anterior segment of neonates by means of wild-field digital imaging system.
METHODS
We used the wide-field digital imaging system to sequentially capture images of the neonates' eyes within 42 days after delivery, including the ocular surface, anterior segment, and fundus. At the same time, basic information at the time of birth and examination was collected.
RESULTS
Among 248 newborns, 51.21% were male. Abnormalities of the anterior segment such as visualization of anterior chamber angle vessels (79.03%) and iris vessels (51.21%), iris process (42.34%), persistent pupillary membranes (19.35%), albinism, congenital cataracts, corneal leucoma, and subconjunctival hemorrhage were observed in this study. There were significant differences in the appearance of iris vessels among different sex, gestational age and birth weight, postmenstrual age and weight at the time of examination and iris color groups. The iris vessels were more visualized in males relative to females (OR = 6.313, 95% CI 2.529-15.759). The greater the postmenstrual age at the time of examination, the lower the visualization of iris vessels (OR = 0.377, 95% CI 0.247-0.575). In addition, although visualization of anterior chamber angle vessels differed within the birth gestation age and weight at examination groups, there was no significant correlation by regression analysis.
CONCLUSIONS
The anterior segment of perinatal neonates can be visualized by the wide-field digital imaging system. The neonatal iris and anterior chamber angle are immature, and the visible vessels at the anterior chamber angle that vanish later than the surface of the iris are characteristic structures.
Topics: Female; Humans; Male; Infant, Newborn; Cross-Sectional Studies; Intraocular Pressure; Glaucoma, Angle-Closure; Tomography, Optical Coherence; Iris; Anterior Chamber; Anterior Eye Segment
PubMed: 37828431
DOI: 10.1186/s12886-023-03139-1 -
European Journal of Ophthalmology May 2024The association between Autism spectrum disorders (ASD) and visual impairment has been mentioned in the literature. The aim of our study was to investigate the...
BACKGROUND
The association between Autism spectrum disorders (ASD) and visual impairment has been mentioned in the literature. The aim of our study was to investigate the prevalence of autism among children with albinism compared to the prevalence of ASD in children with visual impairment secondary to other causes.
METHODS
Retrospective study of children with albinism from January 2015 to December 2020. A control group was created with children with early onset visual impairment of similar visual range and age, secondary to diagnosis other than albinism. Patients with associated Autism were identified in both groups.
RESULTS
Seven hundred and eight children aged 1-18 years with visual impairment were included in the study. 401 children had a diagnosis of albinism, of whom 14 were also diagnosed with ASD. In the control group, composed of 307 patients, only 3 had ASD (p: 0·03).
CONCLUSIONS
The prevalence of ASD in patients with albinism was 1 in 28, while in children with visual impairment from other causes was 1 in 102. We aim to raise awareness of the higher prevalence of autism in children diagnosed with albinism in order to reach earlier diagnosis and support.
Topics: Humans; Retrospective Studies; Child; Prevalence; Male; Female; Child, Preschool; Adolescent; Infant; Visual Acuity; Albinism, Ocular; Autism Spectrum Disorder
PubMed: 37787167
DOI: 10.1177/11206721231206091 -
BMC Medical Genomics Sep 2023To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the...
PURPOSE
To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features.
METHODS
5 probands with X-linked recessive related eoHM were collected in Ningxia Eye Hospital from January 2021 to June 2022. The probands and their family members received comprehensive ophthalmic examinations,and DNA was abstracted from patients and family members. Whole-exome sequencing was performed on probands to screen the causative variants, and all suspected pathogenic variants were determined by Sanger sequencing and co-segregation analysis was performed on available family members. The pathogenicity of novel variants was predicted using silico analysis and evaluated according to ACMG guidelines. RT-qPCR was used to detect differences in the relative mRNAs expression of candidate gene in mRNAs available with the proband and family members in the pedigree 2. The relationship between genetic variants and clinical features was analyzed.
RESULTS
All probands were male, and all pedigrees conformed to an X-linked recessive inheritance pattern. They were diagnosed with high myopia at their first visits between 4 and 7 years old. Spherical equivalent ranged between - 6.00D and - 11.00D.The five novel hemizygous variants were found in the probands, containing frameshift deletion variant c.797_801del (p.Val266Alafs*75) of OPN1LW gene in the pedigree 1, nonsense variant c.513G > A (p.Trp171Ter)of RP2 gene in the pedigree 2, missense variant c.98G > T (p.Cys33Phe) of GPR143 gene in the pedigree 3, frameshift deletion variant c.1876_1877del (p.Met626Valfs*22) of FRMD7 gene in the pedigree 4 and inframe deletion variant c.670_ 675del (p.Glu192_ Glu193del) of HMGB3 gene in the pedigree 5. All variants were classified as pathogenic or likely pathogenic by the interpretation principles of HGMD sequence variants and ACMG guidelines. In family 2, RT-qPCR showed that the mRNA expression of RP2 gene was lower in the proband than in other normal family members, indicating that such variant caused an effect on gene function at the mRNA expression level. Further clinical examination showed that pedigrees 1, 2, 3, and 4 were diagnosed as X-linked recessive hereditary eye disease with early-onset high myopia, including quiescent cone dysfunction, retinitis pigmentosa, ocular albinism, and idiopathic congenital nystagmus respectively. The pedigree 5 had eoHM in the right eye and ptosis in both eyes.
CONCLUSION
In this paper,we are the first to report five novel hemizygous variants in OPN1LW, RP2, GPR143, FRMD7, HMGB3 genes are associated with eoHM. Our study extends the genotypic spectrums for eoHM and better assists ophthalmologists in assessing, diagnosing, and conducting genetic screening for eoHM.
Topics: Child; Child, Preschool; Humans; Male; Cytoskeletal Proteins; East Asian People; Genes, X-Linked; Membrane Proteins; Mutation; Myopia; Age of Onset; Exome Sequencing; Pedigree
PubMed: 37749571
DOI: 10.1186/s12920-023-01665-x -
Journal of Clinical Medicine Aug 2023(1) Background: Albinism is characterized by a lack of pigment in eyes, hair, and skin and developmental changes in the eye such as foveal hypoplasia. Patients require...
(1) Background: Albinism is characterized by a lack of pigment in eyes, hair, and skin and developmental changes in the eye such as foveal hypoplasia. Patients require optical rehabilitation due to low vision, refractive errors, and photosensitivity. We aimed to assess vision-related quality of life in patients with albinism and to evaluate how this was affected by optical rehabilitation. (2) Methods: Patients with ocular or oculocutaneous albinism were invited for the study. Free-of-charge optical rehabilitation was provided as needed, including filters, glasses for near or distance, contact lenses, magnifiers or binoculars. Vision-related quality of life was assessed prior to and after optical rehabilitation using the visual function questionnaire (VFQ39) and the effect of optical rehabilitation was evaluated after accounting for age, gender, and visual acuity. (3) Results: Seventy-eight patients filled out the VFQ39 at the initial visit. Fifty patients (64.1%) returned the questionnaire 3-6 months after optical rehabilitation. The mean age of included patients was 35.9 years (standard deviation 16.6), and their best corrected distance visual acuity was 56 ETDRS letters (range 3-81). The VFQ39 composite score improved significantly from a median of 62.5 (range 14.2-77.0) to 76.5 (20.6-99.6). Significant improvements were seen for ocular pain, social functioning, mental health, role difficulties, and dependency, whereas self-assessed distance or near visual functions did not change. (4) Conclusions: Optical rehabilitation improved the self-reported vision-related quality of life in Danish patients with albinism on a number of parameters related to leading an independent and worry-free life, whereas visual improvement for distance and near tasks was likely limited by the nature of the disease and by the fact that most patients already had access to some optical aids prior to the study.
PubMed: 37685518
DOI: 10.3390/jcm12175451 -
Graefe's Archive For Clinical and... Nov 2023To report the association of tilted disc (TD) with fovea plana.
PURPOSE
To report the association of tilted disc (TD) with fovea plana.
METHODS
Monocentric retrospective study of consecutive eyes diagnosed with fovea plana, assessed by spectral-domain optical coherence tomography. Analysis of the medical charts and imaging findings of patients to collect demographics, the visual acuity, and the clinical context. The presence of associated conditions was checked by two independent readers in order to classify fovea plana as isolated or part of other conditions.
RESULTS
Twenty-one patients, 9 men and 12 women, aged 12 to 91 years, were included. Fovea plana was isolated and asymptomatic in 10 (47.6%) patients. In 6 (28.5%) patients, fovea plana was associated with ocular albinism and/or nystagmus. In 6 (28.5%) patients, fovea plana was associated with an obliquity of the optic disc typical of TD, isolated (5 cases), or associated with nystagmus (1 case).
CONCLUSION
An association between TD and fovea plana had been reported only once in the literature and had been considered likely coincidental. However, this association could be more common than initially reported and suggests a common pathological process in eye development during embryogenesis.
PubMed: 37351645
DOI: 10.1007/s00417-023-06161-7 -
Ophthalmic Genetics Aug 2023To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual PANK2 and OCA2 variants in a Chinese...
PURPOSE
To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual PANK2 and OCA2 variants in a Chinese patient who presented with early-onset reduced vision, nyctalopia, and neurological symptoms.
MATERIALS AND METHODS
Based on the ocular phenotype and provisional diagnosis of rod-cone dystrophy, genetic testing was pursued. Peripheral blood DNA extraction was carried out with the next-generation sequencing technique, which involved a population-specific medical exome virtual panel. Pre- and post-test counseling were carried out by clinical geneticists.
RESULT
Homozygous missense variants in PANK2 {NM_153638.3}:c.655 G>A (p.(Gly219Ser)) and OCA2{NM_025160.6}:c.1327 G>A(p.(Val443Ile)) were identified. The molecular diagnoses of pantothenate kinase associated neurodegeneration (OMIM#234200) and albinism, oculocutaneous, type II (OMIM#203200) were supported by clinical findings.
CONCLUSION
Two rare autosomal recessive diseases, pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) were detected in our patient. Ocular and systemic manifestations, as well as neuroimaging findings were compatible with the diseases identified. Genetic analysis is imperative in making an accurate molecular diagnosis in these rare conditions to allow timely counseling, disease prognostication and management.
Topics: Humans; Mutation; Pantothenate Kinase-Associated Neurodegeneration; Albinism, Oculocutaneous; Retinal Dystrophies; Phosphotransferases (Alcohol Group Acceptor); Membrane Transport Proteins
PubMed: 36330599
DOI: 10.1080/13816810.2022.2135107