Related Experiment Video
Updated: Mar 14, 2026
11:22
Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
Published on: December 22, 2014
18.5K
Regressive Retinal Flecks in CRX-Mutated Early-Onset Retinal Dystrophy
Maria Vittoria Cicinelli1, Maria Pia Manitto, Maurizio Battaglia Parodi
1*MD†MD, FEBODepartment of Ophthalmology, University Vita-Salute, San Raffaele Scientific Institute, Milan, Italy (all authors).
Summary
A novel mutation in the cone-rod transcription factor (CRX) gene caused early-onset retinal dystrophy in a young girl. This genetic mutation led to severe vision loss and a unique retinal appearance that improved over time.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Early-onset retinal dystrophies are a group of inherited eye diseases causing progressive vision loss.
- Mutations in the cone-rod transcription factor (CRX) gene are known to cause various retinal dystrophies.
- Understanding genotype-phenotype correlations is crucial for diagnosing and managing these conditions.
Purpose of the Study:
- To describe a unique flecked-retina phenotype in a pediatric patient with early-onset retinal dystrophy.
- To identify the genetic cause of the retinal dystrophy in this patient.
- To correlate the identified CRX gene mutation with the observed clinical features.
Main Methods:
- A case report of a 5-year-old female with congenital nystagmus and poor vision.
- Ophthalmic examinations including funduscopy and electroretinography (ERG).
- Whole-genome sequencing to identify genetic mutations, specifically in the CRX gene.
Main Results:
- The patient presented with severe visual impairment and non-recordable ERG responses in both rod and cone components.
- Ophthalmoscopy revealed bilateral yellow, fleck-like retinal deposits in the mid- and extreme periphery, which regressed over a 3-year follow-up.
- Genomic sequencing identified a heterozygous missense mutation, c.425A > G (Tyr142Cys), in the CRX gene.
Conclusions:
- A novel heterozygous CRX gene mutation associated with early-onset retinal dystrophy was identified.
- The mutation led to early and severe dysfunction of both rod and cone photoreceptors.
- The study highlights a regressive flecked-retina appearance as a potential ophthalmoscopic sign in CRX-related retinal dystrophy.
Related Concept Videos
01:20The Retinoblastoma Gene
4.9K
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,...
4.9K
01:22Photoreceptors and Visual Pathways
10.5K
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,...
10.5K