Related Experiment Video
Updated: Jul 17, 2026
05:56
Scleral Cross-linking Using Riboflavin and Ultraviolet-A Radiation for Prevention of Axial Myopia in a Rabbit Model
Published on: April 3, 2016
Familial ectopia lentis with Axenfeld-Rieger anomaly
Deependra Vikram Singh1, Yog Raj Sharma, Raj Vardhan Azad
1Vitreo-Retina Services, Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Journal of Pediatric Ophthalmology and Strabismus
|February 6, 2007
Summary
This study reports ectopia lentis in three siblings, with two cases showing Axenfeld-Rieger anomaly. The findings suggest a potential autosomal recessive inheritance pattern for this rare ocular condition.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Ectopia lentis, or lens dislocation, is a rare ocular condition.
- Associated ocular abnormalities can occur with ectopia lentis.
- Axenfeld-Rieger anomaly is a developmental disorder of the anterior segment of the eye.
Observation:
- Three siblings presented with ectopia lentis.
- Two siblings also exhibited Axenfeld-Rieger anomaly.
- One sibling had additional findings of retinal detachment, glaucoma, and ciliary staphyloma.
Findings:
- This is the first documented association between ectopia lentis and Axenfeld-Rieger anomaly.
- The inheritance pattern in this family appears to be autosomal recessive.
- One sibling had no associated ocular abnormalities, indicating variable expressivity.
Implications:
- These findings expand the known clinical spectrum of Axenfeld-Rieger anomaly.
- Further research is warranted to elucidate the genetic basis of this association.
- Early diagnosis and management of associated ocular conditions are crucial for preserving vision.
Related Concept Videos
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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,...
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,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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,...
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,...
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...