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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 -
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 -
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 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 -
Trauma Case Reports Dec 2023We report a case of traumatic bleb leak following trabeculectomy and dislocated intraocular lens treated with combined minimally invasive conjunctival surgery (MICS) and...
PURPOSE
We report a case of traumatic bleb leak following trabeculectomy and dislocated intraocular lens treated with combined minimally invasive conjunctival surgery (MICS) and lens repositioning.
OBSERVATIONS
A 36-year-old woman with a history of phacomorphic glaucoma secondary to microspherophakia and status post trabeculectomy underwent combined MICS and lens repositioning for a late-onset bleb leak and dislocated intraocular lens following minor trauma. The patient's vision rapidly improved postoperatively with prompt resolution of hypotony.
CONCLUSION/IMPORTANCE
MICS is an effective treatment for traumatic bleb leak following trabeculectomy that can be a particularly useful approach for patients undergoing concurrent ophthalmic surgery.
PubMed: 37810536
DOI: 10.1016/j.tcr.2023.100936 -
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 -
Beyoglu Eye Journal 2023We present the long-term results of the implantation of a capsular tension ring (CTR) and Ahmed capsular tension segments (CTS) together for the management of...
We present the long-term results of the implantation of a capsular tension ring (CTR) and Ahmed capsular tension segments (CTS) together for the management of mikrospherophakia in a 35-year-old female patient. The patient had uncontrolled secondary angle-closure glaucoma, despite previous laser peripheral iridotomy, and visual impairment due to lenticular myopia. Clear lens extraction was performed under general anesthesia. The capsular bag was stabilized with a classical CTR and two Ahmed CTSs sutured to the sclera. A single-piece hydrophobic acrylic intraocular lens (32.0 D for the right and 30.0 D for the left eye) was implanted in the capsular bag. The anterior chamber depth was stable, and intraocular pressure (IOP) was 10-12 mmHg in both eyes in the early post-operative period. The bag complex gradually moved forward, IOP gradually increased, and the left eye underwent trabeculectomy surgery in the 4 year of follow-up.
PubMed: 37521882
DOI: 10.14744/bej.2023.57625 -
BMJ Open Ophthalmology Jan 2023To study the visual, refractive and surgical outcomes of intraocular lens (IOL) implantation versus aphakia in children with microspherophakia. (Clinical Trial)
Clinical Trial
OBJECTIVE
To study the visual, refractive and surgical outcomes of intraocular lens (IOL) implantation versus aphakia in children with microspherophakia.
DESIGN
Retrospective, comparative, non-randomised interventional study.
METHODS
All consecutive children with microspherophakia who satisfied the inclusion criteria were included. The eyes that underwent in-the-bag IOL implantation and those that were left aphakic were included in groups A and B, respectively. The postoperative visual outcomes, IOL stability and complications during the follow-up period were studied.
RESULTS
22 eyes (13 patients, male 76%), of which 12 eyes were in group A and 10 eyes in group B. The mean±SE of age at surgery was 9.4±1.4 and 7.3±0.9 years in group A and group B, respectively (p value 0.18). The mean follow-up of group A was 0.9±0.4 years (median 0.5 years; Q1 0.04, Q3 2.16) and group B was 1.3±0.9 years (median 0.147 years; Q1 0.08, Q3 0.39) (p value 0.76). All the baseline biometric variables including best-corrected visual acuity (BCVA) were comparable in each group. The final BCVA in logMAR adjusted for follow-up was comparable in both group A (0.29±0.06) and group B (0.52±0.09) (p value 0.06). Mean predictive error of IOL power in microspherophakia was 0.17±0.43.The most common complication in group A was visual axis opacification of two eyes (16.7%, 95% CI 2.9% to 49.1%), of which one eye (8.3%, 95% CI 0.4% to 40.2%) needed membranectomy. Vitreous in anterior chamber was the most common complication in group B, seen in two eyes (20%, 95% CI 3.5% to 55.8%), of which one eye (10%, 95% CI 0.5% to 45.9%) underwent YAG laser vitreolysis. The survival analysis (p value 0.18) was comparable in each group.
CONCLUSION
In-the-bag IOL is an option, which can be considered in selected cases of microspherophakia in developing nations where regular follow-up and economic constraints are a major concern.
Topics: Humans; Child; Male; Lens Implantation, Intraocular; Aphakia, Postcataract; Retrospective Studies; Visual Acuity; Follow-Up Studies; Postoperative Complications; Joint Dislocations; Anterior Chamber
PubMed: 37278431
DOI: 10.1136/bmjophth-2022-001049 -
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