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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 -
Eye (London, England) Mar 2020
Topics: Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris
PubMed: 31391543
DOI: 10.1038/s41433-019-0544-6 -
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 -
Eye (London, England) Sep 2019To assess the outcomes of intra-lenticular lens aspiration (ILLA) in paediatric cases with anterior dislocation of lens.
PURPOSE
To assess the outcomes of intra-lenticular lens aspiration (ILLA) in paediatric cases with anterior dislocation of lens.
METHODS
A retrospective review of medical records of cases with anterior dislocation of the lens in children (age < 16 years) that underwent ILLA between June 2017 and May 2018 was performed. Corrected distance visual acuity (CDVA), intraocular pressure (IOP), and anterior segment findings were noted at presentation and follow-up. Surgical notes were reviewed for all cases. Post-operative central corneal thickness (CCT) and central macular thickness (CMT) were recorded.
RESULTS
Eleven eyes of eight patients with a median age of ten years underwent ILLA. There were four males and four females. The median duration of symptoms was 2 months, CDVA was 1.77 logMAR, and IOP was 16 mm of Hg. Ten eyes had corneo-lenticular touch with corneal oedema, and two had raised IOP at presentation. Homocystinuria (n = 2/8), Microspherophakia (n = 2/8), Marfan syndrome (n = 1/8), Buphthalmos (n = 1/8) and Ectopia lentis et pupillae (n = 1/8) were the identifiable causes for anterior dislocation. There were no intra-operative complications in any case. Immediate post-operative corneal oedema and raised IOP was observed in nine and three cases respectively and was treated with medical therapy. The median post-operative CDVA and IOP at 6-months was 1 logMAR and 15 mm of Hg respectively. The median CCT and CMT were 516 and 248 μm respectively. Five eyes developed a central corneal descemet scar.
CONCLUSIONS
ILLA is a safe and effective technique for surgical removal of an anteriorly dislocated lens in paediatric cases.
Topics: Adolescent; Anterior Eye Segment; Capsulorhexis; Child; Child, Preschool; Chondroitin Sulfates; Drug Combinations; Eyeglasses; Female; Humans; Hyaluronic Acid; Infant; Intraocular Pressure; Lens Subluxation; Male; Retrospective Studies; Suction; Tonometry, Ocular; Visual Acuity
PubMed: 30944461
DOI: 10.1038/s41433-019-0426-y -
Indian Journal of Ophthalmology Mar 2019
Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Anterior Eye Segment; Corneal Diseases; Ectopia Lentis; Eye Abnormalities; Eye Diseases, Hereditary; Glaucoma; Glaucoma, Angle-Closure; Humans; Iris; Male; Microscopy, Acoustic; Visual Acuity
PubMed: 30777961
DOI: 10.4103/ijo.IJO_978_18 -
Arquivos Brasileiros de Oftalmologia 2019We report the case of a 4-year-old boy with Marfan syndrome whose parents reported he had had low visual acuity since birth. On examination, there was microspherophakia...
We report the case of a 4-year-old boy with Marfan syndrome whose parents reported he had had low visual acuity since birth. On examination, there was microspherophakia and a small subluxation of the lens. The objective refraction was -23.75 - 2.75 x 70 in the right eye and -25.50 -3.50 x 90 in the left eye. Since the microspherophakia and the high myopia severely affected the boy's quality of life, clear lens extraction, anterior vitrectomy, posterior surgical capsulotomy via the pars plana, and intraocular lens implantation were performed. Two years postoperatively, the patient had centered intraocular lenses and a corrected visual acuity of 20/30 in both eyes. The child was satisfied with his vision and was able to study and perform daily activities without visual limitations.
Topics: Child, Preschool; Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris; Lens Implantation, Intraocular; Lens Subluxation; Lens, Crystalline; Male; Marfan Syndrome; Treatment Outcome; Visual Acuity
PubMed: 30652768
DOI: 10.5935/0004-2749.20190012 -
BMC Medical Genetics May 2018Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other...
BACKGROUND
Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10 and ADAMTSL17). The purpose of the present study is to identify the genetic cause of this pathology in a consanguineous Spanish family.
METHODS
A clinical exome sequencing experiment was executed by the TruSight One® Sequencing Panel (TSO) from Illumina©. Sanger sequencing was used to validate the NGS results.
RESULTS
Only the insertion of an adenine in exon 36 of the LTBP2 gene (c.5439_5440insA) was associated with pathogenicity. This new mutation was validated by Sanger sequencing and segregation analysis was also performed. Haplotype analyses using the polymorphic markers D14S1025, D14S43 and D14S999 close to the LTBP2 gene indicated identity by descent in this family.
CONCLUSION
We describe the first case of a microspherophakia phenotype associated with a novel homozygous mutation in the LTBP2 gene in a consanguineous Caucasian family by means of NGS technology.
Topics: Adult; Consanguinity; Corneal Diseases; Ectopia Lentis; Exons; Female; Genetic Association Studies; Genetic Predisposition to Disease; Glaucoma; High-Throughput Nucleotide Sequencing; Humans; Iris; Latent TGF-beta Binding Proteins; Male; Mutagenesis, Insertional; Mutation; Pedigree; Point Mutation; Sequence Analysis, DNA; Spain; White People
PubMed: 29751740
DOI: 10.1186/s12881-018-0590-0 -
Investigative Ophthalmology & Visual... Jan 2017The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie...
PURPOSE
The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies, including microspherophakia and ectopia lentis. Here, we used HPLC-mass spectrometry to determine the molecular composition of the zonule.
METHODS
Tryptic digests of human and bovine zonular samples were analyzed by HPLC-mass spectrometry. The distribution of selected components was confirmed by immunofluorescence confocal microscopy. In bovine samples, the composition of the equatorial zonule was compared to that of the hyaloid zonule and vitreous humor.
RESULTS
The 52 proteins common to the zonules of both species accounted for >95% of the zonular protein. Glycoproteins constituted the main structural components, with two proteins, FBN1 and LTBP2, constituting 70%-80% of the protein. Other abundant components were MFAP2, EMILIN-1, and ADAMTSL-6. Lysyl oxidase-like 1, a crosslinking enzyme implicated in collagen and elastin biogenesis, was detected at significant levels. The equatorial and hyaloid zonular samples were compositionally similar to each other, although the hyaloid sample was relatively enriched in the proteoglycan opticin and the fibrillar collagens COL2A1, COL11A1, COL5A2, and COL5A3.
CONCLUSIONS
The zonular proteome was surprisingly complex. In addition to structural components, it contained signaling proteins, protease inhibitors, and crosslinking enzymes. The equatorial and hyaloid zonules were similar in composition, but the latter may form part of a composite structure, the hyaloid membrane, that stabilizes the vitreous face.
Topics: Adult; Aged; Animals; Cattle; Chromatography, Liquid; Female; Humans; Lens, Crystalline; Male; Microfilament Proteins; Microscopy, Confocal; Microscopy, Electron, Scanning; Middle Aged; Proteomics; Vitreous Body; Young Adult
PubMed: 28125844
DOI: 10.1167/iovs.16-20866 -
Indian Journal of Ophthalmology Dec 2016This study aimed to evaluate the safety and efficacy of retropupillary fixation of an iris-claw intraocular lens (IOL; Verisyse polymethyl methacrylate IOL, Abbott...
PURPOSE
This study aimed to evaluate the safety and efficacy of retropupillary fixation of an iris-claw intraocular lens (IOL; Verisyse polymethyl methacrylate IOL, Abbott Medical Optics [AMO], Netherlands) for the surgical correction of aphakia in microspherophakic eyes without sufficient capsular support.
DESIGN
This was a prospective, interventional, noncomparative case series.
METHODS
This interventional case series comprised 17 eyes of 9 microspherophakic patients. Retropupillary fixation of the Verisyse iris-claw IOL (AMO) was performed in all cases. The surgical time was measured. Corrected distance visual acuity, astigmatism, intraocular pressure (IOP), tissue reaction, pigment dispersion, and stability of the IOL were studied 1 day, 3 days, 1 week, 2 weeks, 1 month, and 6 months postoperatively.
RESULTS
Eight patients had familial microspherophakia and one patient had Marfan's syndrome. Eighty-two percent of the cases achieved a visual acuity of 0.3 or better. There was no significant postoperative inflammatory reaction. Transient elevation of IOP was recorded in two cases in the 1st week only. One IOL developed disengagement of one of the haptics from the iris and was successfully re-engaged. All the other IOLs were well centered and stable. The mean surgical time was 18.0 ± 4.5 min.
CONCLUSIONS
Retropupillary fixation of an iris-claw IOL is a safe and effective procedure that provides early visual recovery. It is also a time-saving method for correcting aphakia in microspherophakic eyes without sufficient capsular support.
Topics: Adolescent; Adult; Aphakia; Corneal Diseases; Ectopia Lentis; Female; Follow-Up Studies; Glaucoma; Humans; Iris; Lenses, Intraocular; Male; Prospective Studies; Prosthesis Design; Refraction, Ocular; Time Factors; Visual Acuity; Young Adult
PubMed: 28112127
DOI: 10.4103/0301-4738.198844 -
Turkish Journal of Ophthalmology Oct 2016We report a case of 13-year-old girl presenting to our clinic with blurred vision in both eyes. Ophthalmic examination revealed high myopia and angle-closure glaucoma...
We report a case of 13-year-old girl presenting to our clinic with blurred vision in both eyes. Ophthalmic examination revealed high myopia and angle-closure glaucoma due to pupillary block caused by small, spherical crystalline lenses. Treatment approaches to glaucoma in patients with microspherophakia are discussed in this case report.
PubMed: 28058167
DOI: 10.4274/tjo.47135