Retinitis punctata albescens is a form of mottled retinitis characterized by discrete and uniform white dots throughout the fundus, with greater density in the middle periphery and without macular involvement. The clinical picture that causes it is night blindness, which can also lead to loss of visual acuity in advanced stages. An autosomal dominant and an autosomal recessive inheritance of the disease have been suggested.
The incidence is between 1-9 / 1,000,000 newborns (ORPHA:52427)
We recommend performing the service when the patient has clinical symptoms and a compatible ophthalmological examination of the fundus and, therefore, when other diagnoses have been clinically discarded.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT):
Ref. S-202313095
Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of high-evidence genes related to the entity of interest, according to what is collected in the OMIM database.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Retinitis punctata albescens / Fundus albipunctatus
