Scientific Publications

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Professional(s) : Benedetto Falsini

Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy

Stress and sleep deprivation-related biomarkers in saliva in patients with retinitis pigmentosa

Professional(s) : Salvador Pastor-Idoate

Center(s) : Hospital Clinico Universitario de Valladolid, Spain

Working group(s) : Retinal Rare Eye Diseases (WG1)

The development of checklists and reference charts for activities of daily living of normal developing children

Professional(s) : Agnese SUPPIEJ

Center(s) : Center for Retinitis Pigmentosa of the Veneto Region - Camposampiero Hospital (Azienda ULSS 6 Euganea), Padova, Italy

Working group(s) : Pediatric Ophthalmology Rare Diseases (WG3)

Conventional Epithelial-Off Corneal Crosslinking in Patients With Progressive Keratoconus: 10-Year Outcomes

Professional(s) : Pierre FOURNIE

Center(s) : National Reference Center of Keratoconus (CRNK), CHU Toulouse, France

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

ITPR1: The missing gene in miosis–ataxia syndrome?

Professional(s) : Pierre FOURNIE

Center(s) : National Reference Center of Keratoconus (CRNK), CHU Toulouse, France

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

Superficial Conjunctival Cells from Dupilumab-Treated Patients with Atopic Dermatitis with Ocular Adverse Events Display a Transcriptomic Psoriasis Signature

Professional(s) : Pierre FOURNIE

Center(s) : National Reference Center of Keratoconus (CRNK), CHU Toulouse, France

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

Eye-Rubbing Detection Tool Using Artificial Intelligence on a Smartwatch in the Management of Keratoconus

Professional(s) : Pierre FOURNIE

Center(s) : National Reference Center of Keratoconus (CRNK), CHU Toulouse, France

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

Professional(s) : Isabelle MEUNIER, Hélène Dollfus

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; CARGO, Hôpitaux Universitaires de Strasbourg, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration

Professional(s) : Isabelle MEUNIER, Isabelle Audo, Christina Zeitz

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France