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Taiwan Journal of Ophthalmology 2023The crystalline lens is an important structure in the eye that starts to develop as early as the 22 day of gestation, with further differentiation that continues after... (Review)
Review
The crystalline lens is an important structure in the eye that starts to develop as early as the 22 day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions.
PubMed: 38249493
DOI: 10.4103/tjo.TJO-D-23-00076 -
Journal of Current Ophthalmology 2023To report a rare case of microspherophakia and lens subluxation in a young patient with Klinefelter syndrome who underwent cataract surgery, emphasizing the importance...
PURPOSE
To report a rare case of microspherophakia and lens subluxation in a young patient with Klinefelter syndrome who underwent cataract surgery, emphasizing the importance of a thorough general health assessment and anamnesis prior to cataract surgery.
METHODS
The case concerns a 52-year-old male referred for phacoemulsification under general anesthesia. A review of literature was performed.
RESULTS
Preoperative assessment revealed a corticonuclear cataract in both eyes, with dislocation of the crystalline lens in the left eye in an area of zonular dehiscence. Upon careful examination, both eyes showed a microspherophakic lens with an increased lens thickness and the lens equator being visible over 360° in the left eye. The patient denied any trauma or medical conditions. His medical health record revealed the coexistence of Klinefelter syndrome (47, XXY). The association between Klinefelter syndrome and microspherophakia has only once been reported in the literature. Intraoperatively, a more cautious approach was withheld and a capsular tension ring was used. Postoperative outcome was successful with good visual outcome and no interoperative complications.
CONCLUSIONS
This case report highlights the importance of proper preoperative assessment before cataract surgery, especially in unusual cases such as early-onset cataract and/or lens subluxation. In addition, it stresses the importance of a systemic and/or genetic evaluation in patients with microspherophakia and an ophthalmological examination in patients with Klinefelter syndrome.
PubMed: 38250495
DOI: 10.4103/joco.joco_291_22 -
Indian Journal of Ophthalmology Nov 2023Microspherophakia is a rare developmental lens anomaly with increased anteroposterior and reduced equatorial diameter. It presents with refractive myopia, shallow...
BACKGROUND
Microspherophakia is a rare developmental lens anomaly with increased anteroposterior and reduced equatorial diameter. It presents with refractive myopia, shallow anterior chamber, and angle closure glaucoma. It is associated with subluxated or dislocated lens, progressive myopia, defective accommodation, and glaucoma. Glaucoma is the most common vision-threatening complication and mostly requires surgical management that includes trabeculectomy, lensectomy, and drainage implant. A staged or combined procedure can be performed. The purpose of this video is to highlight the advantages of combining parsplana vitrectomy (PPV) with parsplana lensectomy (PPL), scleral fixated intraocular lens (SFIOL), and Aurolab aqueous drainage implant (AADI) in a young patient with advanced glaucoma and gross subluxation. Drainage implants are preferred over filtering surgeries in eyes undergoing vitreoretinal procedures due to the risk of bleb fibrosis and hypotony seen in the latter. The combined procedures should be tailored according to the lens status and severity of glaucoma in each patient.
PURPOSE
The purpose of this video is to illustrate a combined quadruple procedure (PPL, PPV, SFIOL, and AADI) in microspherophakic patients with unstable glaucoma and video-based skill transfer to a novice surgeon.
SYNOPSIS
This video illustrates quadruple surgery in a microspherophakic patient with secondary angle closure glaucoma. The authors also emphasize the advantages of a combined quadruple procedure over staged procedure or combined PPL with filtering procedure.
HIGHLIGHTS
Quadruple procedure can be performed in young microspherophakic patients with advanced glaucoma or at risk of progression and losing central vision along with gross subluxation of lens. It eliminates the need for multiple procedures, the risk of hypotony, and bleb-related complications.
VIDEO LINK
https://youtu.be/KdFjb7acXCI.
Topics: Humans; Glaucoma, Angle-Closure; Intraocular Pressure; Visual Acuity; Glaucoma; Retrospective Studies
PubMed: 37870033
DOI: 10.4103/IJO.IJO_733_23 -
Experimental Eye Research Sep 2023Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects. This...
Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects. This study aims to investigate the characteristics and genotype-phenotype correlations of WMS with ADAMTS17 mutations. WMS patients with ADAMTS17 variants were identified by whole-exome sequencing from 185 patients with EL. All the included patients underwent comprehensive ocular and systemic examinations. ADAMTS17 variants were reviewed from included patients, published literature, and public databases. Bioinformatics analysis, co-segregation analysis, species sequence analysis, and protein silico modeling were used to verify the pathogenic mutations. A total of six novel ADAMTS17 mutations (c.1297C > T, c.2948C > T, c.1322+2T > C, c.1716C > G, c.1630G > A, and c.1669C > T) were identified in four WMS probands in our EL cohort (4/185, 2.16%). All probands and their biological parents presented with apparent short stature compared with the standard value. In particular, one child was detected with valvular heart disease, which has not previously been reported in patients with ADAMTS17 mutations. Conserved residues were greatly affected by the substitution of amino acids caused by these six mutations. Short stature could be considered a clue for EL patients with ADAMTS17 mutations, and much more attention needs to be paid to heart disorders among these patients. This study not only reported the characteristics of ADAMTS17 mutation-related WMS but also helped to recognize the genotype-phenotype correlations in these patients.
Topics: Humans; Weill-Marchesani Syndrome; Mutation; Ectopia Lentis; Genetic Association Studies; Glaucoma; ADAMTS Proteins; Latent TGF-beta Binding Proteins
PubMed: 37506754
DOI: 10.1016/j.exer.2023.109606 -
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 -
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 -
Journal Francais D'ophtalmologie Sep 2023
Topics: Humans; Ectopia Lentis; Lens Subluxation; Glaucoma; Corneal Diseases; Lens, Crystalline
PubMed: 37225608
DOI: 10.1016/j.jfo.2022.12.029 -
Gene Oct 2024Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile...
BACKGROUND
Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile of ASPH-associated disease is poorly understood due to the rarity of the condition.
METHODS
We conducted targeted next-generation sequencing and bioinformatics analysis to identify potentially pathogenic ASPH variants in the cohort. Furthermore, we characterized the expression pattern of ASPH and major components of the zonules using single-cell RNA-sequencing (scRNA-seq) and evaluated the genotype-phenotype correlations by combining our data and those from the literature.
RESULTS
We identified a novel missense variant c.2075G > A (p.G692D) and a recurrent nonsense variant c.1126C > G (p.R376*) of ASPH in two pedigrees from a Chinese cohort of EL. Both probands were 5-year-old boys with canonical facial dysmorphisms and bilateral anteriorly-dislocated lenses. Other ocular comorbidities included microspherophakia, shallow anterior chamber, and narrow chamber angel. No cardiac involvements or filtering blebs were identified. The single-cell expression atlas of ciliary epithelium demonstrated the coexpression of ASPH with FBN1, FBN2, and LTBP2 in the non-pigmented ciliary epithelium cells. Furthermore, molecular modeling simulation of p.G692D revealed increased affinity to the cb EGF-like domain and a subsequent destabilized calcium-binding motif. The genotype-phenotype analysis demonstrated that patients with cardiac involvements all harbored biallelic truncation variants.
CONCLUSIONS
The data from this study provide new insights into the genotype-phenotype profile of ASPH-associated disease and implicate the potential role of ASPH in the pathogenesis of EL.
Topics: Humans; Ectopia Lentis; Male; Child, Preschool; Genetic Association Studies; Pedigree; Mutation, Missense; Cohort Studies; Asian People; Phenotype; Female; High-Throughput Nucleotide Sequencing; China; Codon, Nonsense; Genotype; East Asian People; Calcium-Binding Proteins; Mixed Function Oxygenases; Membrane Proteins; Muscle Proteins
PubMed: 38788814
DOI: 10.1016/j.gene.2024.148600 -
Ophthalmology. Glaucoma Apr 2024
PubMed: 38613564
DOI: 10.1016/j.ogla.2024.03.002