Genetic Testing for Rare Retinal Diseases in Telomere Biology Disorders

JAMA Ophthalmol. 2024 Sep 1;142(9):878-879. doi: 10.1001/jamaophthalmol.2024.2947.

Authors

Natasha F S da Cruz¹, Audina M Berrocal¹

Affiliation

¹ Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida.

PMID: 39145950
DOI: 10.1001/jamaophthalmol.2024.2947

No abstract available

MeSH terms

Adult
Female
Genetic Testing* / methods
Humans
Male
Mutation
Rare Diseases / genetics
Retinal Diseases* / diagnosis
Retinal Diseases* / genetics
Telomerase / genetics
Telomere / genetics
Telomere-Binding Proteins / genetics

Substances

Telomerase
Telomere-Binding Proteins