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

Capoluongo, Ettore; Benedetti, Giacomo De; Concolino, Paola; Sepe, M.; Ambu, Rossano; Faa, Gavino; Sciandra, Francesca; Santonocito, C.; D'Alberto, Alessandra; Caselli, Maurizio; Brancaccio, Andrea

doi:10.1177/112067210501500624

Cited by 4 publications

(4 citation statements)

References 18 publications

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“…LCD1 is one of the more common corneal dystrophies in the Western world, but cases have been recognized throughout the world including Bulgaria [ 78 ], Spain [ 70 ] and China [ 79 ]. LCD2 is most common in Finland, where the disease was first discovered and most extensively studied [ 80 ].…”

Section: Definitionmentioning

confidence: 99%

Corneal dystrophies

Klintworth

2009

Orphanet J Rare Dis

282

301

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The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities. Some affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma (anterior corneal dystrophies), the corneal stroma (stromal corneal dystrophies), or Descemet membrane and the corneal endothelium (posterior corneal dystrophies). Most corneal dystrophies have no systemic manifestations and present with variable shaped corneal opacities in a clear or cloudy cornea and they affect visual acuity to different degrees. Corneal dystrophies may have a simple autosomal dominant, autosomal recessive or X-linked recessive Mendelian mode of inheritance. Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Knowledge about the responsible genetic mutations responsible for these disorders has led to a better understanding of their basic defect and to molecular tests for their precise diagnosis. Genes for other corneal dystrophies have been mapped to specific chromosomal loci, but have not yet been identified. As clinical manifestations widely vary with the different entities, corneal dystrophies should be suspected when corneal transparency is lost or corneal opacities occur spontaneously, particularly in both corneas, and especially in the presence of a positive family history or in the offspring of consanguineous parents. Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases (mucopolysaccharidoses, lipidoses, mucolipidoses), and several skin diseases (X-linked ichthyosis, keratosis follicularis spinolosa decalvans). The management of the corneal dystrophies varies with the specific disease. Some are treated medically or with methods that excise or ablate the abnormal corneal tissue, such as deep lamellar endothelial keratoplasty (DLEK) and phototherapeutic keratectomy (PTK). Other less debilitating or asymptomatic dystrophies do not warrant treatment. The prognosis varies from minimal effect on the vision to corneal blindness, with marked phenotypic variability.

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Section: Definitionmentioning

confidence: 99%

Corneal dystrophies

Klintworth

2009

Orphanet J Rare Dis

282

301

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“…LCD1 is one of the more common corneal dystrophies in the Western world, but cases have been recognized throughout the world including Bulgaria, 17 Spain 18 and China. 19 It is most common in Finland, where the disease was first discovered and most extensively studied.…”

Section: Discussionmentioning

confidence: 99%

Demography of corneal dystrophies at a tertiary eye care centre in South India

Kumar¹,

Sridhar²,

Preethi³

et al. 2020

IJCEO

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To report the frequency of corneal dystrophies. Materials and Methods: All patients who presented to the out-patient department were examined for signs of corneal dystrophy from January 2017 to December 2019. All patients underwent a thorough evaluation for demographics, clinical presentation, history of consanguinity, family medical history, and clinical outcome of keratoplasty (in those who required it) and a clinicopathologic correlation was attempted. Complete ophthalmological examination was conducted for all patients which included vision (distance & near), slit lamp examination, retinoscopy, auto refractometer readings, dilated fundus examination, pentacam as well as anterior segment OCT. Photographic documentation was done for all dystrophy patients. Results: During this time period we had 118 patients who were included in the study. History of consanguineous marriage was noted in 62% of the study population. History of a similar problem in siblings and other members was elicited in 27 (22.88%) and 15 (12.71%) patients, respectively. 23 patients required keratoplasty. The average follow-up of each keratoplasty case was 36±14 months. Among these cases, only 2 groups had graft failure, viz, CHED and macular dystrophy. Conclusion: The higher frequency of dystrophies could be due to higher consanguineous marriage, which indicates a need for counselling. Also, there is an increased need for thorough work-up before planning intraocular procedures.

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“…Corneal samples were obtained after keratoplasties with informed consent (as debris product) from two patients: the first one was affected by Lattice Corneal Dystrophy (LCD) in both eyes and previously genotyped (Capoluongo et al, 2005) and the second one was affected by central corneal leucoma secondary to herpes virus infection. The latter was used as a control slicing peripheral/paracentral unaffected sections.…”

Section: Patientsmentioning

confidence: 99%

“…In order to further characterize the antibody functional properties, immunofluorescence assays were carried out on corneal tissue sections obtained from normal human subjects as well as from a patient affected by LCD (single point mutation Arg124→Cys) (Capoluongo et al, 2005). In human cornea, KE is synthesized by epithelial cells and then secreted in the wider stromal compartment.…”

Section: Expression Of Recombinant Fas1-4 Domain and Immunoreactivitymentioning

confidence: 99%

First molecular characterization and immunolocalization of keratoepithelin in adult human skeletal muscle

et al. 2008

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

Abstract: PU R P O S E. To report a new family belonging to a previously non-investigated geographic are a with a rare form of lattice corneal dystrophy (LCD (Eur J Ophthalmol 2005; 15: 8 0 4-8 )

Cited by 4 publications

References 18 publications

Corneal dystrophies

Corneal dystrophies

Demography of corneal dystrophies at a tertiary eye care centre in South India

First molecular characterization and immunolocalization of keratoepithelin in adult human skeletal muscle

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