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BMJ Case Reports Mar 2022
Topics: Child; Corneal Diseases; Ectopia Lentis; Eye; Glaucoma; Humans; Iris; Ophthalmologic Surgical Procedures
PubMed: 35351765
DOI: 10.1136/bcr-2022-249209 -
International Journal of Ophthalmology 2023To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature.
AIM
To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature.
METHODS
Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed.
RESULTS
The three affected siblings presented with short stature, brachydactyly and ocular disorders, including very shallow anterior chamber, high myopia, microspherophakia lens subluxation with stretched zonules and glaucoma. Genetic analysis verified a homozygous missense mutation (c.2983C>T: p. Arg995Trp) in , which was correlated with the diseases in this family, indicating an autosomal recessive inherited manner of WMS. This review aims to summarize the mutation sites of WMS genes, so as to prevent the disease and better guide clinical diagnosis and treatment.
CONCLUSION
A novel homozygous missense variant of is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with variants.
PubMed: 37206179
DOI: 10.18240/ijo.2023.05.04 -
Case Reports in Ophthalmology 202047, XYY syndrome affects males with variable phenotypic expression. Around 80-99% of affected individuals present low-set ears, malar flattening, motor delay, and tall...
47, XYY syndrome affects males with variable phenotypic expression. Around 80-99% of affected individuals present low-set ears, malar flattening, motor delay, and tall stature. Yet, some cases lack signs or symptoms or are barely noticeable. There are four reports of ocular involvement among these individuals - one with unusual multiple retinal atrophic holes in the posterior pole, other with coloboma, an association with morning glory syndrome, and a case of congenital cataract. Here, we describe a plausible new ocular sign in a 4-year-old male with 47, XYY syndrome who was brought to the outpatient clinic for vision loss. After a complete assessment, we diagnosed a right-sided phacomorphic glaucoma and microspherophakia treated with phacoemulsification and aspiration with posterior capsulotomy and anterior vitrectomy, followed by an Ahmed valve implant for intraocular pressure control. Even though there is a low prevalence of ocular involvement in 47, XYY syndrome cases, this might reflect the rarity of the full expression of the disease leading to an underdiagnosis, added to the scarcity of cases. Microspherophakia and phacomorphic glaucoma among four others previously reported ocular findings could be looked for in 47, XYY syndrome patients.
PubMed: 32009932
DOI: 10.1159/000505058 -
Journal of Ophthalmology 2022To evaluate the main factors influencing visual performance after lens subluxation surgery in subjects with isolated MSP.
PURPOSE
To evaluate the main factors influencing visual performance after lens subluxation surgery in subjects with isolated MSP.
DESIGN
Retrospective study.
METHODS
In this study, 38 eyes of subjects with isolated MSP (microspherophakia) were included and divided into two groups based on preoperative IOP (intraocular pressure), IOP <21 mmHg, or IOP ≧21 mmHg. Phacoemulsification and scleral-fixated modified capsular tension ring implantation were performed with or without goniosynechialysis according to the IOP. Some ocular biometric parameters, such as corneal curvature, corneal pachymetry, endothelial cell count (ECC), anterior chamber depth (ACD), and axial length, were evaluated. The best-corrected visual acuity (BCVA) and IOP of these subjects were measured before the surgery and during <1 month and 3- to 6-month postoperative follow-ups.
RESULTS
Compared with the high IOP group, the normal IOP group was significantly younger and had better preoperative BCVA, a higher ECC, deeper ACD, a lower postoperative IOP, and flatter total corneal refractive power K1. The multivariable analysis revealed that preoperative ACD ( = -0.113, = -2.070, =0.047) and preoperative BCVA ( = 0.153, = 2.562, =0.015) were significantly associated with postoperative BCVA at 3-6 months. A preoperative ACD of 1.86 mm was found to be the optimal cut-off point for 3- to 6-month postoperative BCVA of ≧20/63 (≤0.52 logMAR).
CONCLUSIONS
In addition to the effect of normal IOP, better preoperative BCVA and deeper ACD also correlated with better visual outcomes after lens surgery. Preoperative ACD served as a warning for isolated MSP subjects, especially for the risk of irreversible loss of postoperative vision. This trial is registered with "ChiCTR2000039132".
PubMed: 35721227
DOI: 10.1155/2022/9089203 -
Cureus Dec 2023Microspherophakia constitutes a rare, mostly bilateral anomaly of the crystalline lens, which is characterized by the presence of an increased lens thickness and reduced...
Microspherophakia constitutes a rare, mostly bilateral anomaly of the crystalline lens, which is characterized by the presence of an increased lens thickness and reduced equatorial diameter. It is frequently associated with lens subluxation, translating into a high degree of variable lenticular myopia and defective accommodation. The purpose of this report is to describe the treatment of a three-year-old female patient with microspherophakia, with the scleral fixation of an intraocular lens using the z-suture technique. A three-year-old female patient with Marfan Syndrome presented with high bilateral myopia and esotropia. Lens subluxation was perceived, and she was proposed for bilateral surgery. Scleral fixation of the intraocular lens was performed using the z-suture technique. During the five-year follow-up period, she maintained a best-corrected visual acuity of 20/20 in both eyes wearing bifocal glasses. Microspherophakia is a rare but impactful condition, frequently related to severe and variable refractive error due to the lens shape and zonule instability. Intraocular lens implantation in the capsular bag is usually impossible, and scleral fixation is a valid alternative. The z-suture technique avoids suture knots and the need for intrascleral flaps, reducing the risk of suture-related complications.
PubMed: 38222140
DOI: 10.7759/cureus.50445 -
Indian Journal of Ophthalmology Jul 2019
Topics: Adult; Anterior Eye Segment; Corneal Diseases; Diagnosis, Differential; Ectopia Lentis; Electroretinography; Female; Glaucoma; Humans; Iris; Retinitis Pigmentosa; Tomography, Optical Coherence
PubMed: 31238436
DOI: 10.4103/ijo.IJO_1093_18 -
Cureus May 2023Microspherophakia is a rare congenital anomaly characterized by an abnormally small and spherical crystalline lens, which can be associated with several systemic...
Microspherophakia is a rare congenital anomaly characterized by an abnormally small and spherical crystalline lens, which can be associated with several systemic syndromes. We present an extremely rare case of bilateral anteriorly displaced microspherophakia in a female child with Marfanoid habitus. The patient displayed phenotypic features resembling Marfan syndrome, including tall stature, muscle hypotonia, dolichostenomelia, and increased arm span than body length. However, unlike Marfan syndrome, Marfanoid habitus is not associated with mutations in the fibrillin-1 gene. The association between microspherophakia and Marfanoid habitus is a unique presentation that has not been reported in the literature. This case report aims to increase awareness of microspherophakia as a possible ocular association of Marfanoid habitus.
PubMed: 37265880
DOI: 10.7759/cureus.38371 -
The British Journal of Ophthalmology Mar 2021Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by , is an important microfibrillar structural component that is...
BACKGROUND
Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by , is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of clinical phenotypes. In this study, we characterised a Chinese dominant family with late-onset isolated ectopia lentis caused by a novel missense mutation.
METHODS
Eight family members, including four patients with suspected isolated ectopia lentis, were recruited from Shanghai. Clinical data and family history of the proband and other affected family members were collected. Ophthalmic examination, systemic examination and echocardiography were performed. Whole exome sequencing and Sanger sequencing were used to detect potential pathogenic variants.
RESULTS
A novel heterozygous missense mutation c.4031 G>A/p.Gly1344Glu in exon 33 of was identified. This mutation was detected in all affected family members and led to specific ocular system phenotypes (ectopia lentis, microspherophakia and secondary glaucoma) with minor skeletal involvement (hallux valgus).
CONCLUSION
The novel c.4031G>A mutation in is a likely pathogenic mutation for isolated ectopia lentis. Our study expands the spectrum of mutations and contributes to better comprehension of genotype-phenotype correlations of ectopia lentis disease.
Topics: DNA; DNA Mutational Analysis; Ectopia Lentis; Female; Fibrillin-1; Genetic Association Studies; Genotype; Humans; Male; Middle Aged; Mutation; Pedigree; Phenotype
PubMed: 32404357
DOI: 10.1136/bjophthalmol-2019-315265 -
Frontiers in Medicine 2022Microspherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule.
BACKGROUND
Microspherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule.
METHODS
This study included MSP eyes managed with phacoemulsification combined with supra-capsular and scleral-fixated intraocular lens implantation (SCSF-IOL) and made the comparison with those treated by transscleral-fixated modified capsular tension ring and in-the-bag intraocular lens implantation (MCTR-IOL).
RESULTS
A total of 20 MSP patients underwent SCSF-IOL, and 17 patients received MCTR-IOL. The postoperative best corrected visual acuity was significantly improved in both groups ( < 0.001), but no difference was found between the groups ( = 0.326). The IOL tilt was also comparable ( = 0.216). Prophylactic Nd:YAG laser posterior capsulotomy was performed 1 week to 1 month after the SCSF-IOL procedure. In the SCSF-IOL group, two eyes (10.00%) needed repeated laser treatment and one eye (5.00%) had a decentered capsule opening. Posterior capsule opacification was the most common complication (6, 35.29%) in the MCTR group. No IOL dislocation, secondary glaucoma, or retinal detachment was observed during follow-up.
CONCLUSIONS
SCSF-IOL is a viable option for managing MSP and is comparable with the MCTR-IOL. Nd:YAG laser posterior capsulotomy was necessary to prevent residual capsule complications after the SCSF-IOL procedure.
PubMed: 35492301
DOI: 10.3389/fmed.2022.869539 -
The Application of Clinical Genetics 2023Bilateral secondary angle closure glaucoma is a presenting symptom of microspherophakia and ectopia lentis. Characterizing the associated syndrome and confirmation by...
BACKGROUND
Bilateral secondary angle closure glaucoma is a presenting symptom of microspherophakia and ectopia lentis. Characterizing the associated syndrome and confirmation by genetic testing can identify associated systemic abnormalities and provide appropriate genetic counseling.
CASE PRESENTATION
A 42-year-old woman with severe intellectual disability presented with light perception visual acuity and glaucoma, with intraocular pressure (IOP) in her right and left eyes of 69 and 70 mmHg, respectively. She underwent two sessions of 270-degree laser diode transscleral cytophotocoagulation treatment at a 6-month interval and was prescribed topical anti-glaucoma medication. Her family noticed a progressive decrease in her vision while on treatment for 2 years. She was diagnosed with apparent Weill-Marchesani syndrome, accompanied by angle closure glaucoma and microspherophakia. Cataract surgery and intraocular lens implantation were successful in both eyes and post-operative IOP was controlled with anti-glaucoma medication but her vision did not improve from severe glaucomatous optic neuropathy. Her underlying syndrome was investigated genetically by whole exome sequencing.
RESULTS
Sequencing showed a pathogenic variant in , c.3955dupC (p.Gln1319Profs*14), diagnostic of Coffin-Siris syndrome. This is the first report of Coffin-Siris syndrome associated with microspherophakia and angle closure glaucoma.
CONCLUSION
Bilateral angle closure glaucoma from ectopia lentis in patients with genetic syndromes could be an indicator of microspherophakia in adulthood. Ophthalmological surveillance is important in patients with Coffin-Siris syndrome.
PubMed: 37663124
DOI: 10.2147/TACG.S422312