Related Experiment Video
Updated: Aug 18, 2026
Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
Published on: December 22, 2014
Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity
Sarah Kleinberg1, Scott Garrant, Terri Tillen
1Department of Biological Sciences, Oakland University, Rochester, MI 48309-4401, USA.
Insights
The factor V Leiden mutation, a risk for preterm birth, was investigated for its link to advanced retinopathy of prematurity (ROP). This study found the mutation is not a primary risk factor for ROP or FEVR.
Area of Science:
- Genetics
- Ophthalmology
- Neonatology
Background:
- Factor V Leiden mutation is a known risk for preterm delivery.
- Advanced retinopathy of prematurity (ROP) affects premature infants and can cause blindness.
- The genetic link between factor V Leiden and ROP is currently unknown.
Purpose of the Study:
- To investigate the potential association between the factor V Leiden mutation and the development of advanced ROP.
- To explore the genetic contribution to ROP and similar conditions like familial exudative vitreoretinopathy (FEVR).
Main Methods:
- Analysis of 100 premature infants with advanced ROP (stage 4B/5).
- Analysis of 20 term infants with FEVR.
- Analysis of 16 normal infants from diverse ethnic backgrounds.
- DNA sequencing to confirm the Leiden mutation and heterozygosity.
Main Results:
- A heterozygous factor V Leiden mutation was identified in 4% of advanced ROP patients and 5% of FEVR patients.
- The observed mutation frequency in patients was lower than in the general population (5.4%).
- Factor V mutation alone was not statistically significant as a major risk factor for advanced ROP or FEVR.
Conclusions:
- The factor V Leiden mutation is unlikely to be a major independent risk factor for advanced ROP or FEVR.
- The mutation may play a role in conjunction with other genetic or environmental factors in complex traits.
- Further research is needed to elucidate the genetic underpinnings of ROP and FEVR.
Abstract:
The coagulation factor V Leiden mutation was reported to be a significant (10.7%) risk factor for pre-term deliveries. It is also well known that a portion (10%) of very low birth weight premature babies develop advanced retinopathy of prematurity (ROP) which is a leading cause of blindness in children. However, the relationship between the Leiden mutation and development of advanced ROP is not known. In order to understand this relationship as well as genetic contribution to ROP, in this study, we have analyzed 100 pre-term infants with advanced ROP (stage 4B/5), 20 term babies with a clinically similar disease called familial exudative vitreoretinopathy (FEVR) and 16 normal babies from four different ethnic backgrounds. Our extensive analysis has identified a heterozygous Leiden mutation in four patients (4%) with advanced ROP and in one patient (5%) with sporadic FEVR. DNA sequence analysis has further confirmed this base change as well as heterozygosity. However, the frequency observed in the patients analyzed in our study is lower than reported frequency in the general population (5.4%). Therefore, statistically factor V mutation on its own is not a major risk factor for the above two disorders. However, it may be associated with other additive factors as might be expected for a complex genetic trait.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:27Diabetic Retinopathy