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      Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report

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          Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30–60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, and iris heterochromia. Two previous reports also associated ectopia lentis concomitantly among these cases. However, here we report spherophakia as a novel ophthalmological finding in SWS. A 56-year-old female previously diagnosed with SWS presented to the outpatient clinic complaining of right-sided decreased visual acuity and pain after a fall. Phenotypically, the patient had a PWS around V1 territory and involvement of both eyelids. Previous relevant ocular history included retinal detachment without macular involvement, ocular hypertension, and phacodonesis. The slit-lamp examination showed anterior lens luxation and elevated intraocular pressure (IOP) of 40 mm Hg by tonometry. Prior to the surgical approach, the patient received hypotensive treatment for elevated IOP. After intracapsular lens extraction, measurements were consistent with spherophakia. Postoperatively, the patient underwent optical coherence tomography (OCT). There was cystic macular edema (CME) by OCT and a detached posterior hyaloid membrane. The patient fully recovered with topical treatment of bromfenac for CME. To the best of our knowledge, this is the first report of concomitant anterior lens luxation and spherophakia (novel association) in a SWS patient. Our findings supplement the differential ocular diagnoses in SWS and should be considered in the routine ocular exam, specifically of the anterior segment. CME occurred similar to otherwise healthy eyes. However, in this case, topical anti-inflammatory medications had a good response and were well-tolerated.

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          Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

          The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine stains, and the severity and extent of presentation are determined by the developmental time point at which the mutations occurred. To date, no such mutation has been identified. We performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 persons with the Sturge-Weber syndrome. We tested for the presence of a somatic mosaic mutation in 97 samples from 50 persons with the Sturge-Weber syndrome, a port-wine stain, or neither (controls), using amplicon sequencing and SNaPshot assays, and investigated the effects of the mutation on downstream signaling, using phosphorylation-specific antibodies for relevant effectors and a luciferase reporter assay. We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls. The prevalence of the mutant allele in affected tissues ranged from 1.0 to 18.1%. Extracellular signal-regulated kinase activity was modestly increased during transgenic expression of mutant Gαq. The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. This finding confirms a long-standing hypothesis. (Funded by the National Institutes of Health and Hunter's Dream for a Cure Foundation.).
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            Change in shape of the aging human crystalline lens with accommodation.

            The objective was to measure the change in shape of the aging human crystalline eye lens in vivo during accommodation. Scheimpflug images were made of 65 subjects between 16 and 51 years of age, who were able to accommodate at least 1D. The Scheimpflug images were corrected for distortion due to the geometry of the camera and the refraction of the cornea and anterior lens surface, which is necessary to determine the real shape of the lens. To ensure accurate correction for the refraction of the anterior lens surface, the refractive index of the crystalline lens must be determined. Therefore, axial length was also measured, which made it possible to calculate the equivalent refractive index of the lens and possible changes in this index during accommodation. The results show that during accommodation there is a decrease in both the anterior and the posterior radius of the lens, although the change in mm per diopter of the latter is much smaller. The increase in lens thickness with accommodation is higher than the decrease in the anterior chamber depth, indicating that the posterior lens surface moves backwards with accommodation. During accommodation the anterior lens surface becomes more hyperbolic. Furthermore, an increase in the equivalent refractive index during accommodation was determined.
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              LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

              The latent TGFβ-binding proteins (LTBPs) and fibrillins are a superfamily of large, multidomain proteins with structural and TGFβ-signalling roles in the extracellular matrix. Their importance is underscored by fibrillin-1 mutations responsible for Marfan syndrome, but their respective roles are still incompletely understood. We report here on two families where children from healthy, consanguineous parents, presented with megalocornea and impaired vision associated with small, round, dislocated lenses (microspherophakia and ectopia lentis) and myopia, as well as a high-arched palate, and, in older children, tall stature with an abnormally large arm span over body height ratio, that is, associated features of Marfan syndrome. Glaucoma was not present at birth, but was diagnosed in older children. Whole genome homozygosity mapping followed by candidate gene analysis identified homozygous truncating mutations of LTBP2 gene in patients from both families. Fibroblast mRNA analysis was consistent with nonsense-mediated mRNA decay, with no evidence of mutated exon skipping. We conclude that biallelic null LTBP2 mutations cause the ocular phenotype in both families and could lead to Marfan-like features in older children. We suggest that intraocular pressures should be followed-up in young children with an ocular phenotype consisting of megalocornea, spherophakia and/or lens dislocation, and recommend LTBP2 gene analysis in these patients.

                Author and article information

                Case Reports in Ophthalmology
                S. Karger AG
                May – August 2020
                14 July 2020
                : 11
                : 2
                : 356-363
                aDepartment of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Cuauhtemoc, Mexico
                bDepartment of Molecular Biology and Biochemistry, Universidad Panamericana Escuela de Medicina, Benito Juarez, Mexico
                cDepartment of Public Health, Universidad Panamericana Escuela de Medicina, Benito Juarez, Mexico
                dDepartment of Surgery, Massachusetts General Hospital, Boston, Massachusetts, USA
                Author notes
                *Claudia Palacio Pastrana, Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz, IAP, Ezequiel Montes #135, Col. Tabacalera, Ciudad de México 06030 (Mexico), cpalaciopastrana@gmail.com
                508064 PMC7443686 Case Rep Ophthalmol 2020;11:356–363
                © 2020 The Author(s). Published by S. Karger AG, Basel

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                Page count
                Figures: 5, Pages: 8
                Case Report


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