BioMed Research International

Rare Diseases of the Anterior Segment of the Eye: Update on Diagnosis and Management


Status
Published

1University of Rome “Sapienza”, Rome, Italy

2IRCCS Fondazione GB Bietti, Rome, Italy

3Ospedale San Raffaele, Milan, Italy

4Queen Alexandra Hospital, Portsmouth, UK

5Scheie Eye Institute Philadelphia, Philadelphia, USA


Rare Diseases of the Anterior Segment of the Eye: Update on Diagnosis and Management

Description

The anterior segment of eye is involved in a wide range of rare conditions including, but not limited to, phakomatoses, palpebral malformations, and corneal dystrophies. Appropriate diagnosis and management of these disorders are a requirement to successfully preserve vision and quality of life of patients. Availability of new genetic and instrumental tools, as well as recent discoveries on medical treatment, biotechnology, and cellular therapy, led to an improvement in diagnosis and management of these rare ophthalmic conditions. The deeper knowledge of diagnosis, pathogenic mechanisms, and medical and surgical treatments will allow more targeted therapeutic strategies, hence offering better care to patients.

We invite investigators to submit original research and review articles that will contribute to the definition of the diagnostic criteria, medical and surgical management, and future therapies to treat successfully this seldom encountered group of diseases.

We are particularly interested in articles exploring the current concepts in the diagnosis of rare ocular diseases affecting the anterior segment, advances in molecular genetics and molecular diagnostics, and novel therapeutic approaches including medical, cellular, and surgical treatments.

Potential topics include, but are not limited to:

  • Congenital palpebral abnormalities
  • Congenital cornea diseases
  • Corneal dystrophies
  • Iridocorneal endothelial (ICE) syndrome
  • Congenital glaucoma
  • Phakomatosis with eye involvement

Articles

  • Special Issue
  • - Volume 2015
  • - Article ID 947326
  • - Editorial

Rare Diseases of the Anterior Segment of the Eye: Update on Diagnosis and Management

Alessandro Lambiase | Flavio Mantelli | ... | Giacomina Massaro-Giordano
  • Special Issue
  • - Volume 2015
  • - Article ID 805367
  • - Research Article

Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

Anna K. Nowinska | Sławomir J. Teper | ... | Edward Wylegala
  • Special Issue
  • - Volume 2015
  • - Article ID 281870
  • - Clinical Study

Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients

Dariusz Dobrowolski | Boguslawa Orzechowska-Wylegala | ... | Pasquale Aragona
  • Special Issue
  • - Volume 2015
  • - Article ID 527835
  • - Research Article

Climatic Droplet Keratopathy in Argentina: Involvement of Environmental Agents in Its Genesis Which Would Open the Prospect for New Therapeutic Interventions

María Fernanda Suárez | Leandro Correa | ... | Horacio Marcelo Serra
  • Special Issue
  • - Volume 2015
  • - Article ID 805876
  • - Review Article

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

Flavio Mantelli | Chiara Nardella | ... | Alessandro Lambiase
  • Special Issue
  • - Volume 2015
  • - Article ID 781294
  • - Review Article

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Solmaz Abdolrahimzadeh | Valeria Fameli | ... | Santi Maria Recupero
  • Special Issue
  • - Volume 2015
  • - Article ID 393670
  • - Review Article

Pediatric Glaucoma: A Literature’s Review and Analysis of Surgical Results

Gianluca Scuderi | Daniela Iacovello | ... | Luca Scuderi
  • Special Issue
  • - Volume 2015
  • - Article ID 786519
  • - Review Article

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

Solmaz Abdolrahimzadeh | Vittorio Scavella | ... | Santi Maria Recupero
  • Special Issue
  • - Volume 2015
  • - Article ID 475392
  • - Review Article

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Sangita P. Patel | Mark D. Parker
  • Special Issue
  • - Volume 2015
  • - Article ID 408495
  • - Clinical Study

Stem Cell Therapy for Corneal Epithelium Regeneration following Good Manufacturing and Clinical Procedures

Beatriz E. Ramírez | Ana Sánchez | ... | Margarita Calonge
BioMed Research International
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