Center for Hereditary Retinal Degenerations

Focus

The Center for Hereditary Retinal Degenerations is a clinical facility that provides diagnostic evaluation and clinical consultation for patients with inherited forms of retinal degenerative diseases and performs research to better understand the basis and progression of these conditions.

At the Center for Hereditary Retinal Degenerations, a team of clinicians, scientists, and vision specialists perform psychophysical tests (like color vision, perimetry, dark adaptation, full-field stimulus testing), imaging tests (like OCT, autofluorescence imaging), and electrophysiological tests (like ERG and EOG) on patients in order to diagnose and monitor the progression of the retinal diseases.

The ultimate goal is to provide treatment for these incurable disorders. At our Center for Hereditary Retinal Degenerations, there are currently ongoing and upcoming early-phase clinical trials that test the safety and efficacy of potential therapies in patients who have these diseases.

Director and Faculty Members

Artur V. Cideciyan, PhD

Cideciyan Lab

Clinical Research Staff

Alexander Sumaroka, PhD - Retina Structure Bioengineer
Alejandro J. Roman, MS - Retina Function Bioengineer
Malgorzata Swider, PhD - Bioengineer
Arun K. Krishnan, BS Optom, PhD - Vision Research Specialist
Alexandra V. Garafalo, MEng - Clinical Research Administrator & Bioengineer
Vivian Wu, MS - Clinical Research Coordinator & Bioengineer
Brianna Lisi, BS - Vision Research Specialist
Rebecca Sheplock, BA - Clinical Research Coordinator
Valeryia Aksianiuk, BA - Clinical Research Coordinator
Christian Adair Powers, BA - Clinical Research Coordinator
Robert C. Russell, BS - Office Manager

Research Publications

Recent Publications

Mobility Test to Assess Functional Vision in Dark-Adapted Patients with Leber Congenital Amaurosis.
BMC Ophthalmology, June 2022.
Intravitreal Antisense Oligonucleotide Sepofarsen in Leber Congenital Amaurosis Type 10: A Phase 1b/2 Trial.
Nature Medicine, April 2022.
Comprehensive Variant Spectrum of the CNGA3 Gene in Patients Affected by Achromatopsia.
Human Mutation, March 2022.
Comparative Natural History of Visual Function From Patients with Biallelic Variants in BBS1 and BBS10.
Investigative Ophthalmology & Visual Science, December 2021.
Gene Therapy Reforms Photoreceptor Structure and Restores Vision in NPHP5-Associated Leber Congenital Amaurosis.
Molecular Therapy, October 2021.

All Publications

List of all research publications

Contact

Phone: 215-662-9981
Fax: 215-662-9388

Email: chrd@uphs.upenn.edu