scholarly journals Meretoja’s Syndrome: Lattice Corneal Dystrophy, Gelsolin Type

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
I. Casal ◽  
S. Monteiro ◽  
C. Abreu ◽  
M. Neves ◽  
L. Oliveira ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Tear Film ◽  
Corneal Dystrophy ◽  
Eyelid Closure ◽  
Protein Fragments ◽  
Lattice Corneal Dystrophy ◽  
Ocular Symptoms ◽  
Punctal Plugs ◽  
Department Of Ophthalmology ◽  
Preservative Free

Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure. She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja’s syndrome at the age of 50, confirmed by the presence of gelsolin mutation. At our observation she had bilateral diminished tear film break-up time and Schirmer test, diffuse keratitis, corneal opacification, and neovascularization in the left eye. She was treated with preservative-free lubricants and topical cyclosporine, associated with nocturnal complete occlusion of both eyes, and underwent placement of lacrimal punctal plugs. Ocular symptoms are the first to appear and our role as ophthalmologists is essential for the diagnosis, treatment, and monitoring of ocular alterations in these patients.

scholarly journals Unilateral lattice corneal dystrophy in a young female: A unique case report

2017 ◽  
Vol 9 (1) ◽  
pp. 66-69
Author(s):  
Anuradha Raj ◽  
Renu Dhasmana ◽  
Harsh Bahadur
Keyword(s):  
Corneal Opacity ◽  
Corneal Dystrophy ◽  
Young Female ◽  
Ophthalmological Examination ◽  
Lattice Corneal Dystrophy ◽  
Department Of Ophthalmology ◽  
Female Case ◽  
Temporal Quadrant ◽  
Lattice Pattern ◽  
Noncontact Tonometry

Background: Unilateral lattice corneal dystrophy is a rare entity. Objective: To highlight the evidence of unilateral lattice corneal dystrophy in a young female. Case: A young 28 years old female presented to the outpatient department of Ophthalmology with slowly progressive diminution of vision in left eye for one month. On ophthalmological examination best corrected visual acuity (BCVA) was 20/20 and 20/40 with refractive error of plano and -0.75D Cyl @30 for right and left eye respectively. Ocular examination of right eye was unremarkable. On slit lamp examination, left eye showed multiple radial lattice lines in branching spider like pattern in the temporal cornea with pupillary margin involvement. The lattice pattern was confined to anterior to midstroma of the cornea with intact epithelium and unremarkable endothelium. The lesions did not involve the limbus. These lattice lines were prominent on retroillumination. In temporal quadrant near pupillary margin a small radial nebulomacular corneal opacity was seen without any corneal vascularisation or edema. The anterior chamber was deep and quiet. Corneal sensations were markedly reduced. Intraocular pressure was 10 and 12mmHg for right and left eye respectively with noncontact tonometry. Fundus examination was unremarkable. Family history and systemic history was negative. Optical coherence tomography(OCT) showed hyperreflective material in midstoma confirmed the diagnosis of unilateral lattice corneal dystrophy(LCD) with an apparently healthy fellow eye. 

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  
Keyword(s):  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Late Onset ◽  
Family Members ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Ophthalmological Examination ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene ◽  
Novel Variant

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

scholarly journals Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yahya Benbouchta ◽  
Imane Cherkaoui Jaouad ◽  
Habiba Tazi ◽  
Hamza Elorch ◽  
Mouna Ouhenach ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Heterozygous Mutation ◽  
Large Variability ◽  
Whole Exome ◽  
Moroccan Family

Abstract Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. A total of 99 genes are involved in CDs. The aim of this study was to identify pathogenic variants causing atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with severely different stages of evolution. Case presentation In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C > A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family. Conclusions This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.

Amyloid and Pro501Thr-mutated βig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

1999 ◽  
Vol 127 (4) ◽  
pp. 456-458 ◽  
Author(s):  
Satoshi Kawasaki ◽  
Kohji Nishida ◽  
Andrew J Quantock ◽  
Atsuyoshi Dota ◽  
Kelly Bennett ◽  
...  
Keyword(s):  
Gene Product ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Type Iiia

Recurrence of Lattice Corneal Dystrophy Caused by Incomplete Removal of Stroma After Deep Lamellar Keratoplasty

Cornea ◽  
2006 ◽  
Vol 25 ◽  
pp. S41-S46 ◽  
Author(s):  
Yu-Feng Yao ◽  
Yu-Qi Jin ◽  
Bei Zhang ◽  
Ping Zhou ◽  
Yong-Ming Zhang ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Lamellar Keratoplasty ◽  
Lattice Corneal Dystrophy ◽  
Incomplete Removal ◽  
Deep Lamellar Keratoplasty

Ocular Symptoms and Signs with Preserved and Preservative-Free Glaucoma Medications

2007 ◽  
Vol 17 (3) ◽  
pp. 341-349 ◽  
Author(s):  
N. Jaenen ◽  
C. Baudouin ◽  
P. Pouliquen ◽  
G. Manni ◽  
A. Figueiredo ◽  
...  
Keyword(s):  
Ocular Symptoms ◽  
Symptoms And Signs ◽  
Preservative Free

scholarly journals The RELIEF study: Tolerability and efficacy of preservative-free latanoprost in the treatment of glaucoma or ocular hypertension

2018 ◽  
Vol 29 (2) ◽  
pp. 210-215 ◽  
Author(s):  
Marta Misiuk-Hojlo ◽  
Maria Pomorska ◽  
Malgorzata Mulak ◽  
Marek Rekas ◽  
Joanna Wierzbowska ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Intraocular Pressure ◽  
Standard Deviation ◽  
Ocular Hypertension ◽  
Benzalkonium Chloride ◽  
Tear Film ◽  
Corrected Visual Acuity ◽  
Break Up ◽  
Preservative Free ◽  
Best Corrected Visual Acuity

Purpose: To assess tolerability and efficacy following a switch from benzalkonium chloride–latanoprost to preservative-free latanoprost in patients with glaucoma or ocular hypertension. Methods: A total of 140 patients with glaucoma or ocular hypertension controlled with benzalkonium chloride-latanoprost for at least 3 months were switched to treatment with preservative-free latanoprost. Assessments were made on days 15, 45, and 90 (D15, D45, and D90) and included best-corrected visual acuity, intraocular pressure, slit lamp examination, fluorescein staining, tear film break-up time, patient symptom evaluation, and subjective estimation of tolerability. Results: Mean best-corrected visual acuity remained unchanged during the study. Mean intraocular pressure compared with baseline (D0) remained stable throughout the study (D0, 15.9 mmHg (standard deviation = 2.6); D90, 15.3 mmHg (standard deviation = 2.4); p < 0.006). Tear film break-up time improved or remained unchanged relative to baseline in 92% of patients at D45 and in 93% at D90. Moderate-to-severe conjunctival hyperemia was seen in 56.8% of patients at D0, but this figure decreased to 13.7%, 2.2%, and 1.6% at D15, D45, and D90, respectively. Subjective assessment of tolerability (0–10 scale) indicated improvement with change of therapy (mean score: 5.3 (standard deviation = 2.2) at D0 versus 1.9 (standard deviation = 1.7) at D90; p < 0.0001). Conclusion: Preservative-free latanoprost has at least the same intraocular pressure-lowering efficacy as benzalkonium chloride–latanoprost, with a better tolerability profile. This may translate into greater control of treatment and improved quality of life.

First Genetic Analysis of Lattice Corneal Dystrophy Type I in a Family from Bulgaria

2005 ◽  
Vol 15 (6) ◽  
pp. 804-808 ◽  
Author(s):  
E. Capoluongo ◽  
G. De benedetti ◽  
P. Concolino ◽  
M. Sepe ◽  
R. Ambu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Corneal Dystrophy ◽  
Type I ◽  
Lattice Corneal Dystrophy

Objective ocular surface tolerance in patients with glaucoma treated with topical preserved or unpreserved prostaglandin analogues

2018 ◽  
Vol 29 (6) ◽  
pp. 645-653 ◽  
Author(s):  
Ammar El Ameen ◽  
Guillaume Vandermeer ◽  
Raoul K Khanna ◽  
Pierre-Jean Pisella
Keyword(s):  
Intraocular Pressure ◽  
Prostaglandin Analogue ◽  
Ocular Toxicity ◽  
Prostaglandin Analogues ◽  
Conjunctival Hyperaemia ◽  
Ocular Symptoms ◽  
Tear Meniscus ◽  
Tear Meniscus Height ◽  
Preservative Free ◽  
Ocular Signs

Purpose: Preservatives in glaucoma medications have been associated with ocular toxicity. We compared ocular signs and symptoms in patients with open-angle glaucoma or ocular hypertension treated in monotherapy with preserved or preservative-free prostaglandin analogues. Methods: Observational cross-sectional clinical study in real life. 82 patients treated for at least 6 months with prostaglandin analogue were assessed for intraocular pressure, ocular symptoms and ocular signs including conjunctival hyperaemia, tear break-up time and tear meniscus height measured using objective and non-invasive methods (OCULUS Keratograph 5M). Patients presenting with symptoms of ocular toxicity with preserved prostaglandin analogues were switched to preservative-free latanoprost, and a second assessment was processed 6 months after. Results: At inclusion, 30 (36.6%) patients were treated with preservative-free latanoprost, 25 (30.5%) with preserved latanoprost, 16 (19.5%) with preserved travoprost and 11 (13.4%) with preserved bimatoprost. Patients treated with preservative-free latanoprost reported significantly less ocular symptoms upon instillation (mainly burning) and between instillations than patients treated with preserved prostaglandin analogues. The mean conjunctival hyperaemia (limbal + bulbar) was significantly lower with preservative-free latanoprost (2.08 ± 0.55) compared to preserved latanoprost (2.50 ± 0.7, p = 0.0085), preserved travoprost (2.67 ± 0.82, p = 0.0083) and preserved bimatoprost (2.68 ± 0.67, p = 0.0041). There were no relevant between-group differences in mean tear meniscus height and break-up time. Ocular symptoms and conjunctival hyperaemia improved when preserved prostaglandin analogues were switched to preservative-free latanoprost for 6 months while intraocular pressure reduction was maintained. Conclusion: Overall, this study suggests a better subjective and objective ocular tolerance when patients were treated with preservative-free latanoprost than with other preserved prostaglandin analogues monotherapy. Switching to preservative-free latanoprost maintained intraocular pressure at the same level as preservative prostaglandin analogue, but improved ocular surface tolerance.

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