BioMed Research International

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


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


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
BioMed Research International
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