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Journal of AAPOS : the Official... Apr 2019We present an unusual case of microcornea, bilateral spontaneous dislocation of lenses, and anomalous optic disks in a 7-week-old girl in whom a systemic diagnosis of... (Review)
Review
We present an unusual case of microcornea, bilateral spontaneous dislocation of lenses, and anomalous optic disks in a 7-week-old girl in whom a systemic diagnosis of Marfan syndrome had not yet been confirmed at presentation. The causes and differential diagnoses of this condition are discussed, and the literature on ocular manifestations of neonatal Marfan syndrome is reviewed.
Topics: Cornea; Diagnosis, Differential; Ectopia Lentis; Fatal Outcome; Female; Humans; Infant; Marfan Syndrome; Optic Disk
PubMed: 30447425
DOI: 10.1016/j.jaapos.2018.09.004 -
Indian Journal of Ophthalmology Apr 2016Cataract surgery in eyes with microcornea is associated with frequent complications such as corneal edema, posterior capsular rent, and risk of unplanned aphakia. We... (Review)
Review
Cataract surgery in eyes with microcornea is associated with frequent complications such as corneal edema, posterior capsular rent, and risk of unplanned aphakia. We describe an improved surgical technique for the creation of surgical incisions during phacoemulsification in eyes with cataract associated with microcornea. A retrospective analysis of eight patients (8 eyes) operated at our center was undertaken. The mean age of the patients was 29.5 ± 10.9 years. All eyes were operated using the scleral pocket incision for phacoemulsification. This scleral pocket incision was tangential to the limbus and created approximately 2.5 mm behind limbus through which phacoemulsification probe was inserted. Because of the posterior placement of incision, the anterior chamber crowding was minimized. There was no incidence of port-site peripheral corneal edema. Fifty percent eyes developed transient central corneal edema, the intraocular lens in bag was implanted in 5/8 eyes, and none developed Descemet's membrane detachment. Mean best-corrected visual acuity improved from 1.85 ± 0.38 logarithm of minimum angle of resolution (LogMAR) to 1.26 ± 0.70 LogMAR postoperatively (P = 0.01; paired t-test). Posterior incision placement during phacoemulsification in microcornea helps achieve favorable postoperative outcomes in contrast to outcomes using clear corneal approach described in literature.
Topics: Adult; Cataract; Cornea; Corneal Diseases; Female; Follow-Up Studies; Humans; Male; Phacoemulsification; Retrospective Studies; Sclera; Severity of Illness Index; Visual Acuity
PubMed: 27221687
DOI: 10.4103/0301-4738.182949 -
BMC Ophthalmology Feb 2022Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or...
BACKGROUND
Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Although several causative genes have been reported in patients with CCMC, the genetic etiology of CCMC is yet to be clearly understood.
PURPOSE
To unravel the genetic cause of autosomal dominant family with CCMC.
METHODS
All patients and available family members underwent a comprehensive ophthalmologic clinical examination in the hospital by expert ophthalmologists and carried out to clinically diagnosis. All the patients were screened by whole-exome sequencing and then validated using co-segregation by Sanger sequencing.
RESULTS
Four CCMC patients from a Chinese family and five unaffected family members were enrolled in this study. Using whole-exome sequencing, a missense mutation c.295G > T (p.A99S, NM_003106.4) in the SOX2 gene was identified and validated by segregation analysis. In addition, this missense mutation was predicted to be damaging by multiple predictive tools. Variant p.Ala99Ser was located in a conservation high mobility group (HMG)-box domain in SOX2 protein, with a potential pathogenic impact of p.Ala99Ser on protein level.
CONCLUSIONS
A novel missense mutation (c.295G > T, p.Ala99Ser) in the SOX2 gene was found in this Han Chinese family with congenital cataract and microcornea. Our study determined that mutations in SOX2 were associated with CCMC, warranting further investigations on the pathogenesis of this disorder. This result expands the mutation spectrum of SOX2 and provides useful information to study the molecular pathogenesis of CCMC.
Topics: Cataract; Corneal Diseases; DNA Mutational Analysis; Humans; Mutation; Mutation, Missense; Pedigree; Phenotype; SOXB1 Transcription Factors
PubMed: 35148715
DOI: 10.1186/s12886-022-02291-4 -
The British Journal of Ophthalmology Jan 1967
Topics: Child; Cornea; Eye Diseases; Female; Glaucoma; Humans; Male; Myopia
PubMed: 6018552
DOI: 10.1136/bjo.51.1.57 -
Molecular Genetics & Genomic Medicine Jun 2022Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and...
BACKGROUND
Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied among the patients indicating potential broad phenotypic spectrum.
METHODS
The present case was a 6-month-old male at diagnosis. The patient exhibited long philtrum, large ears, bilateral ptosis, and nystagmus. Ophthalmic tests showed that he had microcornea, iris and choroidal coloboma. The patient presented with global developmental delay (GDD). Trio-whole exome sequencing and genome copy number sequencing were conducted to explore the disease-causing mutations.
RESULTS
Exome sequencing and genome copy number sequencing showed the presence of L1471F and E661G compound mutations in TENM3, which were inherited from the mother and father, respectively. Sanger sequencing was conducted to verify association of the mutations with the disease in the present family.
CONCLUSION
Two TENM3 variants were identified in a patient with Syndromic microphthalmia 15 in the present study. However, further studies should be conducted to explore the pathogenicity of the variants.
Topics: China; Coloboma; Eye Abnormalities; Humans; Infant; Iris; Male; Membrane Proteins; Microphthalmos; Nerve Tissue Proteins
PubMed: 35397152
DOI: 10.1002/mgg3.1948 -
Journal of Ophthalmology 2020To characterize the clinical features in young patients with angle closure and to determine the characteristics associated with acquired anterior segment abnormality...
PURPOSE
To characterize the clinical features in young patients with angle closure and to determine the characteristics associated with acquired anterior segment abnormality following retinopathy of prematurity (ROP) treatment.
METHODS
We performed two retrospective case-control series. In the first series, we identified consecutive young angle closure patients without prior surgeries, with and without a history of ROP treatment; in the second series we identified consecutive patients who underwent ROP treatment, without and without anterior segment changes.
RESULTS
In the first series, 25 eyes of 14 consecutive angle closure patients were included: 19 eyes (11 patients, 78.6%) had a history of treated ROP, while 6 eyes (3 patients) belonged to full-term patients. The treated ROP eyes had significantly shallower anterior chambers (1.77 ± 0.17 mm vs 2.72 ± 0.18 mm, < 0.0001) and thicker lenses (5.20 ± 0.54 mm vs 3.98 ± 0.20 mm, = 0.0002) compared to the full-term controls. In the second series, 79 eyes of 40 patients were included, with median gestational age of 24.6 weeks. Acquired iridocorneal adhesion was noted in the eight eyes (10.1%) at a mean age of 4.7 years and was associated with prior zone 1 and plus disease ( = 0.0013), a history of initial intravitreal bevacizumab treatment (IVB, = 0.0477) and a history of requiring additional IVB after initial treatment ( = 0.0337).
CONCLUSIONS
Many young angle closure patients may have a history of treated ROP and may present with the triad of increased lens thickness, microcornea, and angle closure.
PubMed: 32454993
DOI: 10.1155/2020/7510903 -
Graefe's Archive For Clinical and... Sep 2006The presentation of microcornea associated with axial myopia by means of modern examination techniques.
BACKGROUND
The presentation of microcornea associated with axial myopia by means of modern examination techniques.
METHODS
Clinical investigations.
RESULTS
The horizontal diameter of the cornea was 8.00 mm on both sides. The average refractive power of the cornea was 39.27D/38.48D on the right/left sides by corneal topography. The central corneal thickness was 568 micro m/559 micro m on the right and left sides, respectively. The depth of the anterior chamber was 1.18 mm/1.14 mm and the origin of the irises was steep, as demonstrated by ultrasound biomicroscopy (UBM). The axial length was 26.42 mm/25.63 mm on the right/left sides. Endothelial morphology disclosed degeneration on both sides.
CONCLUSIONS
The present case demonstrates that the clinical signs of microcornea are flat corneal surface, normal thickness, and degenerated endothelium. This disorder associated with axial myopia is an extremely rare ophthalmologic condition.
Topics: Cornea; Corneal Topography; Eye Abnormalities; Humans; Male; Microscopy, Acoustic; Middle Aged; Myopia
PubMed: 16496171
DOI: 10.1007/s00417-006-0264-z -
BMJ Case Reports May 2022
Topics: Choroid; Coloboma; Eye Abnormalities; Humans; Retina; Retinal Diseases
PubMed: 35606024
DOI: 10.1136/bcr-2021-245848 -
American Journal of Ophthalmology Case... Jun 2019MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal...
PURPOSE
MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with a variation of MPPC syndrome who each underwent pars plana vitrectomy, pars plana lensectomy, and amblyopic management. Clinical characteristics, ancillary test findings, and post-surgical functional results are compared to what is reported in the literature.
METHODS
Retrospective review of medical records of patients who presented with microcornea, persistent fetal vasculature, chorioretinal coloboma, and microphthalmia who underwent surgical correction at Bascom Palmer Eye Institute.
RESULTS
3 patients (6 eyes) were included, two males and one female. All patients were born full term, vaginally, and had no family history of genetic abnormalities affecting the eye. All patients had color fundus images, fluorescein angiography (FA) and echography. Four eyes underwent surgery. Following surgical intervention, patients demonstrated improved visual acuity, and improved functional status.
CONCLUSION AND IMPORTANCE
Patients with microcornea, PFV, chorioretinal coloboma, and microphthalmos, can benefit from surgical intervention when functional decline or media opacities are noted. Though difficult to assess accurate visual acuity and visual improvement pre-operatively and post-operatively, it is evident that our patients demonstrated improvement in functionality and vision following surgical intervention.
PubMed: 30766938
DOI: 10.1016/j.ajoc.2019.01.005