Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features

Summary

Considering recent literature, it is possible to hypothesise a link between dental anomalies and ocular and/or cutaneous findings, given the existence of shared genetic and developmental mechanisms between these two anatomical areas. Both the eye and teeth develop from ectodermal and mesenchymal tissues, involving common molecular signalling pathways such as Wnt, BMP and PAX. Genetic variants affecting these pathways can therefore determine combined phenotypes, such as congenital cataracts associated with dental agenesis or enamel malformations. Some rare genetic syndromes, such as Nance-Horan syndrome and oculofacio-cardio-dental (OFCD) syndrome, support the hypothesis of a systemic correlation between odontogenesis and ocular development. In a previous study on congenital cataracts, nearly 10% of probands with variants in the BCOR, CWC27, IFIH1, NHS, and PAX6 genes had various dental abnormalities. Therefore, exploring the possible connection between eye and dental diseases may not only facilitate early and multidisciplinary diagnosis, but also open up new perspectives in genetic research and the development of personalised therapeutic approaches, for which whole genome sequencing (WGS) appears to be the first choice for investigating non-syndromic forms. Therefore, the current clinical study aims to identify variants in genes common to eye diseases and dental anomalies (agenesis, supernumerary teeth, Hutchinson's teeth, mulberry molars) in orthodontic patients over the age of 12 with dental anomalies who are about to begin orthodontic treatment or who are attending routine check-ups at the Orthodontics and Paediatric Dentistry Unit, Department of Clinical, Surgical, Diagnostic and Paediatrics Sciences at the University of Pavia who have a family history of ocular and cutaneous manifestations or presenting at the same time dental, ocular and/or cutaneous anomalies. Patients who are eligible will be invited to participate in the study. After signing the informed consent form, the Case Report Form will be completed to collect the data of interest for the study; previous medical reports will be asked to patients or parents/legal guardians in case of minors to ascertain ocular and cutaneous pathologies; a buccal swab will be taken to collect a DNA sample that will be analysed with Next Generation Sequencing. In addition, cephalometric evaluations will be performed if lateral teleradiographs will be available, if already performed in accordance with Good Clinical Practice for the purposes of orthodontic assessment of patients.

Conditions

• Congenital Cataract
• Tooth Abnormalities
• Ocular Pathologies

Interventions

GENETIC

Whole Genome Sequencing

Genetic testing will be performed to find variants in genes involving congenital cataract and/or ocular diseases (keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia) and dental anomalies (tooth agenesis, supernumerary teeth, Hutchinson teeth, mulberry molars). Cutaneous appendage anomalies will be also evaluated in clinical history for ascertaining ectodermal diplasia.

OTHER

Cephalometric tracing

Cephalometric tracing will be performed on lateral cephalometric radiographs if present and not taken on purpose for the study

Sponsors & Collaborators

• University of Pavia

  lead OTHER

Principal Investigators

• Andrea Scribante · University of Pavia

Study Design

Allocation

NA

Purpose

DIAGNOSTIC

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

12 Years

Max Age

70 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2026-02-28

Primary Completion

2027-04-30

Completion

2027-04-30

Countries

• Italy

Study Locations