About

Artur V. Cideciyan, PhD, is a Research Professor of Ophthalmology and Co-Director of the Center for Hereditary Retinal Degenerations at the University of Pennsylvania's Perelman School of Medicine. His primary research interests involve understanding disease mechanisms in human hereditary retinal degenerations and evaluating mechanism-specific treatments for these blinding conditions. This is achieved through the use of non-invasive surrogate measures of biochemical and morphological abnormalities of the retina and the retinal pigment epithelium (RPE). His work also leverages knowledge from human retinopathies to understand the molecular foundations of normal human vision. Dr. Cideciyan's research employs a variety of methods including imaging, electrophysiology, psychophysics, mathematical modeling, and software development. His laboratory utilizes optical coherence tomography (OCT) to define retinal structure and light scatter characteristics, autofluorescence imaging to elucidate RPE abnormalities, electroretinogram (ERG) photoresponses and psychophysical methods to understand photoreceptor dysfunction, and pupillary imaging to assess post-retinal visual function. His contributions include advancing understanding of retinal degenerations such as retinitis pigmentosa, Leber congenital amaurosis, and other inherited retinal diseases, and testing pre-clinical therapeutic strategies, including gene and antisense oligonucleotide therapies.

Research topics

• Bioinformatics
• Biology
• Pathology
• Optometry
• Medicine
• Ophthalmology

Selected publications

• Bi-allelic pathogenic variants in <i>NR2E3</i> may be associated with a subtle enhanced S-cone syndrome phenotype

  Ophthalmic Genetics · 2026-03-30

  article

  PURPOSE: that did not result in an overt enhanced S-cone syndrome (ESCS) phenotype. METHODS: The patient underwent a comprehensive ophthalmic exam, imaging with spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence, and vision measured with kinetic and static chromatic perimetry and full-field electroretinography (ffERG). RESULTS: (c.119-2A > C and c.227 G > A) previously associated with ESCS. CONCLUSIONS: -ESCS and local relationships between local L/M and S-cone dysfunction suggest a mild ESCS phenotype that can escape detection in the absence of classical ffERG retina-wide findings of this syndrome.

  PublisherDOI

• A Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration

  Retinal Cases & Brief Reports · 2026-01-22

  article

  PURPOSE: To increase our understanding of TUBB4B-associated autosomal dominant retinal degenerations through in-depth retinal phenotyping. METHODS: Two patients with pathogenic heterozygous variants in TUBB4B underwent a comprehensive ophthalmic exam, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), ultra-widefield fundus imaging and short-wavelength (SW) and near infrared (NIR) fundus autofluorescence (FAF). Kinetic and chromatic dark- and light-adapted perimetry co-localized to the SD-OCT scans was performed in the older patient. RESULTS: A 4 year old, high hyperope (+7D) boy sensorineural hearing loss (SNHL) since one year of age presented with surface elevation of the optic nerves concerning for papilledema. Visual acuities were 20/50 and 20/60 for the right and left eye, respectively. Evaluation revealed optic disc drusen, low-grade foveal hypoplasia and a retina-wide photoreceptor degeneration, most severe in the pericentral retinal sparing of the foveal center. A 43 year-old ∼6D myope woman with a 10-year-history of subtle visual field loss presented with normal visual acuities and generalized constriction of her kinetic fields. There as a retina-wide degeneration with a severe pericentral component encircled a normally laminated central island of normal rod- and cone photoreceptor function by chromatic perimetry. She reported no hearing loss. Genetic testing revealed heterozygous pathogenic variants in TUBB4B (c.1171C>T in the child, c.1168C>T variant in the adult patient). CONCLUSIONS: We find in TUBB4B-associated retinal degeneration a predilection of disease to the pericentral retina with relative central sparing. The findings support a spectrum of severity within a recurring retinal phenotype that reconciles apparent phenotypic variability reported for this condition.

  PublisherDOI

• Measuring Vision in Children Undergoing Retinal Gene Therapy

  JAMA Ophthalmology · 2026-01-02

  articleSenior author
  PublisherDOI

• Detailed structural abnormalities associated with a novel <i>VCAN</i> variant in a family with versican vitreoretinopathy

  Ophthalmic Genetics · 2025-03-26

  article

  PURPOSE: . METHODS: Two sisters ages 16 (proband) and 18 years old and their 48-year-old father underwent comprehensive ophthalmic evaluations. Multimodal imaging was performed with spectral domain optical coherence tomography, ultrawide field short-wavelength fundus autofluorescence, and pseudocolor imaging. RESULTS: (c.4004-2A>C) segregated with the phenotype in the proband and her father. CONCLUSIONS: variant. The patterns of structural abnormalities support classical mechanisms of disease that involve local vitreoretinal traction, as well as possible alternative developmental and/or degenerative changes of the retina, RPE, and/or choroid that result from the primary molecular defect.

  PublisherDOI

• Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST)

  Investigative Ophthalmology & Visual Science · 2025-10-28 · 1 citations

  reviewOpen access1st authorCorresponding

  Quantification of visual function in severe forms of inherited retinal disease is challenging because of lack of stable gaze. Full-field stimulus test (FST) was developed two decades ago as an outcome measure to evaluate potential changes to the vision after gene augmentation therapy in RPE65-associated Leber congenital amaurosis. With greater use, there has been greater interest in better understanding photoreceptors dominating the perception of FST. Review of the literature and currently available data support the longstanding and currently prevailing hypothesis that sensitivity of the healthiest retinal region beneficial to visual function drives the sensitivity of FST. In contrast, the alternative hypothesis-that far peripheral photoreceptors hidden from the visual field signal perception of intraocularly scattered light originating from FST-is not supported.

  PublisherOA PDFDOI

• Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium

  Translational Vision Science & Technology · 2025-08-27 · 4 citations

  reviewOpen access

  Over the past decade, efforts focused on developing genetic therapies for inherited retinal diseases have advanced steadily to clinical trials and the development of a treatment, fueling optimism for the potential of precision medicines to provide safe and effective therapies for these rare conditions. Although several ongoing programs remain poised for success, numerous challenges have negatively impacted the ability to obtain regulatory approvals. The present position paper briefly summarizes recent advances and challenges in developing therapeutics for inherited retinal diseases, and presents a set of recommendations for moving the field forward. The priorities identified are discussed in terms of progress made and future needs, focusing on areas including patient support, disease mechanisms, outcome measures, and therapy approvals. A key point is the potential value of restructuring collaborative interactions into broadly resourced enterprises that are comprehensive in scope across critical areas of science, business, and medicine.

  PublisherOA PDFDOI

• Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial

  Molecular Therapy · 2025-07-02 · 2 citations

  articleOpen accessSenior author
  PublisherOA PDFDOI

• Measuring Rod- and Cone-Photoreceptor–Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter

  Investigative Ophthalmology & Visual Science · 2025-10-17 · 1 citations

  articleOpen accessSenior authorCorresponding

  Purpose: The primary pathology in most inherited retinal diseases (IRDs) is located within photoreceptors. Standard automatic perimetry (SAP) can measure photoreceptor disease severity but cannot distinguish between rods, long/middle-wavelength (L/M)-sensitive, and short-wavelength (S)-sensitive cones. Herein we developed a protocol that can provide photoreceptor-specific sensitivities. Methods: A commercial (unmodified) perimeter was used to develop a clinical protocol that includes five profiles along the vertical meridian, utilizing different chromatic stimuli presented in the dark-adapted state or on adapting backgrounds. Data were recorded by the Perimetry for IRD (PERIRD) consortium in control participants and patients with IRDs. Results: The protocol was developed by evaluating the relationship between chromatic thresholds and adapting backgrounds using a threshold-versus-intensity paradigm. Five conditions were selected: two-color dark-adapted, red-on-blue, and blue-on-yellow tests in addition to white-on-white SAP. Prediction intervals from control eyes were defined, and physiological ranges over which rod-, L/M-, and S-cone-specific results can be obtained were estimated. Testing in complete achromatopsia, blue-cone monochromacy, and enhanced S-cone syndrome confirmed classic patterns expected from cone diseases. Patients with incomplete achromatopsia showed partially retained L/M- or S-cone function. Patients with retinitis pigmentosa demonstrated use of photoreceptor-specific function to interpret different disease subtypes and stages. Total test time for the protocol was usually under 30 minutes. Conclusions: Photoreceptor-specific function can be measured over a large dynamic range using a turnkey commercial perimeter and a relatively short, practical protocol that may be introduced into the clinic, translational work, and clinical trials.

  PublisherOA PDFDOI

• Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations

  Translational Vision Science & Technology · 2025-08-05 · 1 citations

  articleOpen accessSenior authorCorresponding

  Purpose: Key outcome measures for inherited retinal degenerations (IRDs) are derived from the termination point of the inner and outer segment junction (IS/OS, or ellipsoid zone (EZ)) signal on optical coherence tomography (OCT), which demarcates the emergence of photoreceptor outer segment (OS) abnormalities. However, the termination point is not always abrupt and can be ambiguous. This study aimed to characterize OS disease at each retinal location. Methods: Widefield OCTs from two ABCA4-associated and fifteen RHO-associated IRD patients were recorded over ∼2 years. Data from a neighborhood of each sample were fed into a two-level artificial intelligence architecture, which achieved 95% accuracy for classifying outer retinal disease into definitely present OS (DPOS), definitely absent OS (DAOS), or questionably absent OS (QAOS). Results: DPOS and DAOS regions were always separated by QAOS regions; wider QAOS regions corresponded to an extended transition from OS disease to health. Point-by-point comparison of OS maps with serial widefield imaging showed that, on average, 94% of the samples remained stable, with the remainder showing progression. The best predictor of progression was the distance to the nearest locus with greater OS disease: DPOS and QAOS pixels within 2° and 5.5°, respectively, of a nearby location with greater disease had as much as 10-fold higher likelihood of progression. Conclusions: The assumption of an abrupt transition in EZ-based outcomes may not reflect the underlying pathophysiology of IRDs. Translational Relevance: Ambiguous transition zones and their immediate neighborhoods may demarcate retinal regions having high likelihood for progression and act as efficient endpoints for clinical trials.

  PublisherOA PDFDOI

• Gene therapy for young children with congenital blindness

  The Lancet · 2025-02-01 · 1 citations

  letterOpen access1st authorCorresponding
  PublisherOA PDFDOI

Recent grants

• NIH Grant R01EY013203

  NIH · $2.4M · 2014

• NIH Grant R24EY022012

  NIH · $15.8M · 2018

Frequent coauthors

• Samuel G. Jacobson

  Penn Presbyterian Medical Center

  964 shared

• Alexander Sumaroka

  University of Pennsylvania

  430 shared

• Alejandro J. Román

  389 shared

• Tomas S. Alemán

  University of Pennsylvania

  352 shared

• Sharon Schwartz

  University of California, Santa Cruz

  301 shared

• Rupert W. Strauß

  Medical University of Graz

  275 shared

• Edwin M. Stone

  248 shared

• Małgorzata Świder

  Penn Presbyterian Medical Center

  234 shared

Education

• Ph.D., Department of Biomedical Engineering

  University of Miami

  1992