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Indian Journal of Ophthalmology Jan 2020To report the outcomes of pars-plana approach for the management of brunescent cataract in eyes with severe microcornea and associated chorio-retinal coloboma.
PURPOSE
To report the outcomes of pars-plana approach for the management of brunescent cataract in eyes with severe microcornea and associated chorio-retinal coloboma.
METHODS
This was a retrospective, single center, interventional case series performed in a tertiary eyecare center in central Medical records of consecutive cases of microcornea with coloboma who underwent pars-plana vitrectomy with phacofragmentation (PF) between January 2015 and December 2017 were reviewed.
RESULTS
The study group comprised of 30 eyes of 30 patients, of which 18 (60%) were males and 12 (40%) were females. The mean age of the patients was 41.9 years (range of 17-70 years). The mean corneal diameter was 6.7 mm with a range of 4-8 mm and all the eyes had dense cataract with nuclear sclerosis of grade 4 or more. The mean preoperative visual acuity was 1.97 (+/-0.067) Log MAR and the mean postoperative vision at 1 month was 1.6 (+/-0.39) Log MAR. Postoperatively, 21 patients (70%) gained ambulatory vision. The visual gain in all the patients was maintained over a mean follow-up period of 15.5 months.
CONCLUSION
Pars-plana vitrectomy with PF can be considered in eyes with severe microcornea and brunescent cataracts, where cataract surgery through the limbal (anterior) approach is not only difficult but at times impossible due to anatomical restraints.
Topics: Adolescent; Adult; Aged; Cataract; Choroid Diseases; Coloboma; Corneal Diseases; Female; Humans; Male; Middle Aged; Phacoemulsification; Retinal Diseases; Retrospective Studies; Severity of Illness Index; Vitrectomy; Young Adult
PubMed: 31856479
DOI: 10.4103/ijo.IJO_405_19 -
Indian Journal of Ophthalmology Feb 2022Cataract surgeries are challenging in colobomatous eyes as they are associated with features such as microphthalmia, microcornea, zonular deficit, etc. These factors...
BACKGROUND
Cataract surgeries are challenging in colobomatous eyes as they are associated with features such as microphthalmia, microcornea, zonular deficit, etc. These factors predispose to capsulorhexis extension, posterior capsular rent, zonular dialysis and result in unfavourable visual outcomes. The most critical step of cataract surgery in such cases is the capsulorhexis as the chances of extension are high in the colobomatous area. In presence of pre-existing zonular dehiscence, nucleus management becomes more challenging in advanced cataracts.
PURPOSE
To illustrate efficient management of advanced cataract in colobomatous eyes.
SYNOPSIS
A 39-year old lady presented with complaints of gradually progressive diminution of vision in both eyes. Examination revealed bilateral nuclear sclerosis grade III-IV with irido-lenticular retinochoroidal coloboma (ILRCC). The patient was scheduled for bilateral cataract surgery after a thorough evaluation. Initially, the left eye was planned for phacoemulsification, in the course of which capsulorhexis extension occurred, leading to nucleus tilt and vitreous disturbance during emulsification. Automated anterior vitrectomy was done and the surgical approach was shifted to manual small incision cataract surgery (MSICS) with 3-piece intraocular lens placement in sulcus. The right eye was hence planned for MSICS and a rhexis extension was noted in this eye as well. Comparing the outcome of both the surgeries it was noted that both had capsulorhexis extension, but the management of nucleus and intraocular lens implantation was efficient in case of MSICS than phacoemulsification. Posterior chamber intraocular lens were placed in both eyes and the patient attained good visual outcome.
HIGHLIGHTS
MSICS is a better approach to cases of ILRCC with advanced cataract. The capsulo should be tailored according to the site of coloboma such that it should be smaller in the area involving the coloboma and larger away from it.
VIDEO LINK
https://youtu.be/d9FC0eavhRs.
Topics: Adult; Capsulorhexis; Cataract; Cataract Extraction; Coloboma; Female; Humans; Phacoemulsification
PubMed: 35086288
DOI: 10.4103/ijo.IJO_149_22 -
International Journal of Ophthalmology 2022To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS).
AIM
To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS).
METHODS
A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received ophthalmic examinations with medical histories provided. Targeted next-generation sequencing approach was conducted on the two affected males to screen for their disease-causing mutations.
RESULTS
Two male family members diagnosed with NHS manifested bilateral congenital cataracts microcornea, strabismus and subtle facial and dental abnormalities, while female carriers presented posterior Y-sutural cataracts. A novel frameshift mutation (c.3916_3919del) in the NHS gene was identified. This deletion was predicted to alter the reading frame and generate a premature termination codon after a new reading frame.
CONCLUSION
The study discovers a new frameshift mutation in a Chinese family with NHS. The findings broaden the spectrum of NHS mutations that can cause NHS in Chinese patients.
PubMed: 35814882
DOI: 10.18240/ijo.2022.06.22 -
Molecular Vision Aug 2005The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported.
PURPOSE
The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported.
METHODS
Family history and clinical data were recorded. This phenotype was linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the beta-crystallin gene cluster (ZMax of 3.91 for marker D22S1114 at theta=0). Candidate genes were PCR amplified and screened for mutations on both strands using direct sequencing.
RESULTS
Sequencing of the coding regions and flanking intronic sequences of CRYBB2 and CRYBB1 showed the presence of a novel, heterozygous X253R change in exon 6 of CRYBB1. SSCP analysis confirmed that this sequence change segregated with the disease phenotype in all available family members and was not found in 109 ethnically matched controls.
CONCLUSIONS
X253R is predicted to elongate the COOH-terminal extension of the protein and would be expected to disrupt beta-crystallin interactions. This is the first documented involvement of CRYBB1 in ocular development beyond cataractogenesis.
Topics: Adolescent; Adult; Aged; Cataract; Child; Chromosomes, Human, Pair 22; Cornea; DNA Mutational Analysis; Eye Abnormalities; Female; Genes, Dominant; Genetic Linkage; Humans; Infant; Male; Middle Aged; Mutation; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; beta-Crystallin B Chain
PubMed: 16110300
DOI: No ID Found -
Indian Journal of Ophthalmology Feb 2018Here, 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...
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.
Topics: Abnormalities, Multiple; Adult; Connexin 43; Craniofacial Abnormalities; DNA; DNA Mutational Analysis; Eye Abnormalities; Foot Deformities, Congenital; Humans; Male; Microphthalmos; Syndactyly; Tomography, Optical Coherence; Tooth Abnormalities
PubMed: 29380799
DOI: 10.4103/ijo.IJO_756_17 -
Frontiers in Genetics 2021Approximately 50% of cataracts are associated with genetic factors. Genetic etiology and molecular mechanisms based on gene research increase the understanding of...
Approximately 50% of cataracts are associated with genetic factors. Genetic etiology and molecular mechanisms based on gene research increase the understanding of cataracts and provide direction for diagnosis and intervention. In the present study, SCIE papers related to the modeling of cataract gene research from 2010-2019 were evaluated and qualitative and quantitative analyses with modeling performed. The SCIE database was searched on July 6, 2021 for cataract gene publications and relevant papers published since 2010 were considered for review. Subsequently, 1,904 SCIE papers associated with cataract genes from 2010-2019 were analyzed using a bibliometric method. The publication, country, institution, journal, references, knowledgebase, keywords, and research hotspots of the papers were analyzed using an online analysis platform of literature metrology, bibliographic item co-occurrence matrix builder (BICOMB), CiteSpace V, and VOS viewer analysis tool. 78 countries published the related articles, and the United States ranks of America had the most publications. Two thousand seven hundred and eighty three institutions contributed to the related publications. Fudan University had the most publications. The reference clusters of SCI papers were clustered into six categories, namely, causing congenital cataract-microcornea syndrome, functional snp, cataractous lenses, a1 mutation, foxe3 mutation, cell adhesion gene pvrl3, nid1 gene. The key words representing the research frontiers were cerebrotendinous xanthomatosis (2017-2019), oxidative stress (2017-2019). This study provided a systematic, objective and comprehensive analysis of the literature related to gene research of cataract. Moreover, this study demonstrated the current hotspots and the future trends in the field of gene research of cataract. This review will help ophthalmologist to discern the dynamic evolution of cataract gene research, as well as highlight areas for future research.
PubMed: 34434212
DOI: 10.3389/fgene.2021.610728 -
Cytogenetic and Genome Research 2018Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused... (Review)
Review
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal dominant manner in the majority of the patients. However, in recent clinical reports, autosomal recessive ODDD cases due to by GJA1 mutations were also described. Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly of the 2nd and 3rd toes. These clinical findings were concordant with the diagnosis of ODDD, and a novel homozygous mutation (c.442C>T, p.Arg148Ter) was determined in the GJA1 gene leading to a premature stop codon. His phenotypically normal parents were found to be carriers of the same mutation. This is the third family in the literature in which ODDD segregates in an autosomal recessive manner.
Topics: Adolescent; Codon, Terminator; Connexin 43; Craniofacial Abnormalities; Eye Abnormalities; Foot Deformities, Congenital; Genes, Recessive; Homozygote; Humans; Male; Mutation; Syndactyly; Tooth Abnormalities
PubMed: 29902798
DOI: 10.1159/000489000 -
Molecular Vision 2017This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities.
PURPOSE
This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities.
METHODS
Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collected from the patients. Next-generation sequencing of known ocular genes was applied to the proband of each family and two simplex cases to find pathogenic variances. PCR and Sanger sequencing were conducted for validation and segregation tests.
RESULTS
All 13 patients had congenital cataracts, and other ocular abnormalities were found in some cases. Microcornea was found in 12 subjects, and ocular coloboma was observed in five. Various types of coloboma, including iris, choroid, macular, and optic disc, were described. Five mutations in crystallin genes were identified. Four of the mutations are novel: : p.(Arg230Cys), : p.(Gly149Val), : p.(Met44CysfsTer59), and : p.(Tyr144Ter). One mutation was reported previously: : p.(Arg21Trp).
CONCLUSIONS
We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. Four novel mutations and one previously reported mutation were identified. These data expand the mutation spectrum in crystallin genes and enhance our understanding of the phenotypes of congenital cataracts.
Topics: Adult; Aged; Asian People; Cataract; DNA Mutational Analysis; Eye Abnormalities; Female; Genotype; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Mutation; Pedigree; Phenotype; Young Adult; beta-Crystallin B Chain; gamma-Crystallins
PubMed: 29386872
DOI: No ID Found -
International Journal of Molecular... Feb 2021EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic variants associated...
EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia (small, underdeveloped eye, ≥2 standard deviations below normal axial length). Microphthalmia arises from ocular maldevelopment with >90 monogenic causes, and can include a complex ocular phenotype. In this paper, we report two pathogenic variants in unrelated families presenting with bilateral microphthalmia and congenital cataracts. Whole genome sequencing through the 100,000 Genomes Project and cataract-related targeted gene panel testing identified autosomal dominant heterozygous mutations segregating with the disease: (i) missense c.1751C>T, p.(Pro584Leu) and (ii) splice site c.2826-9G>A. To functionally validate pathogenicity, morpholino knockdown of / in zebrafish resulted in significantly reduced eye size ± cataract formation. Misexpression of N-cadherin and retained fibre cell nuclei were observed in the developing lens of the knockdown morphant fish by 3 days post-fertilisation, which indicated a putative mechanism for microphthalmia pathogenesis through disruption of cadherin-mediated adherens junctions, preventing lens maturation and the critical signals stimulating eye growth. This study demonstrates a novel association of with microphthalmia, suggesting further analysis of pathogenic variants in unsolved microphthalmia cohorts may increase molecular diagnostic rates.
Topics: Adolescent; Adult; Alternative Splicing; Animals; Cataract; Child; Embryo, Nonmammalian; Ephrin-A2; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Microphthalmos; Middle Aged; Morpholinos; Mutation, Missense; Oligonucleotides, Antisense; Pedigree; Receptor, EphA2; Zebrafish; Zebrafish Proteins
PubMed: 33671840
DOI: 10.3390/ijms22042190 -
Korean Journal of Ophthalmology : KJO Sep 2006To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos. (Comparative Study)
Comparative Study
PURPOSE
To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos.
METHODS
Retrospective studies were conducted by reviewing the charts of 26 eyes of 15 patients with secondary PC-IOL implantations for microcornea and/or microphthalmos associated with cataract in children between 1999 and 2002. The corneal diameter was 9.5 mm or less at the time of secondary PC-IOL implantation. Preoperative examinations were conducted for bilaterality, corneal diameter, eye abnormalities and systemic abnormalities. Postoperative results were evaluated in terms of visual developments, refractive changes, axial length measurements and the occurrence of complications. The follow-up period was at least one year after secondary PC-IOL implantation.
RESULTS
Age at the first diagnosis for cataract with microcornea and/or microphthalmos was 2.7 months on average. Among 15 patients, 8 (53.3%) had a family history. All patients received an initial irrigation and aspiration, posterior capsulectomy, and anterior vitrectomy at 0.8 years (0.1-3.3 years) of age and a secondary PC-IOL implantation surgery at 6.7 years (1.6-17.2 years) of age on average. The postoperative follow-up period was 2.1 years (1.1-4.3 years) on average. The average power of the implanted PC-IOL was +21.2D. Postoperative complications were secondary glaucoma in two eyes, secondary pupillary membrane formation in two eyes. Best corrected visual acuities in 20 eyes in children capable of the vision test at the last follow-up were 20/60 or better in 11 eyes, 20/80 to 20/150 in eight eyes, and 20/200 or worse in one eye.
CONCLUSIONS
The secondary PC-IOL implantation in pediatric cataract with microcornea and/or microphthalmos is recommended as a means of improving vision, but must be conducted carefully to avoid possible complications.
Topics: Adolescent; Cataract; Child; Child, Preschool; Cornea; Corneal Diseases; Follow-Up Studies; Humans; Infant; Infant, Newborn; Lens Implantation, Intraocular; Lenses, Intraocular; Microphthalmos; Prosthesis Design; Refraction, Ocular; Retrospective Studies; Treatment Outcome; Visual Acuity
PubMed: 17004628
DOI: 10.3341/kjo.2006.20.3.151