Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy

Author:

Placidi Giorgio12ORCID,Maltese Paolo3ORCID,Savastano Maria12,D’Agostino Elena1,Cestrone Valentina1,Bertelli Matteo345ORCID,Chiurazzi Pietro67ORCID,Maceroni Martina12ORCID,Minnella Angelo12,Ziccardi Lucia8ORCID,Parisi Vincenzo8,Rizzo Stanislao129,Falsini Benedetto12ORCID

Affiliation:

1. Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy

2. Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy

3. MAGI’S LAB, 38068 Rovereto, Italy

4. MAGI EUREGIO, 39100 Bolzano, Italy

5. MAGISNAT, Atlanta Tech Park, 107 Technology Parkway, Peachtree Corners, GA 30092, USA

6. Medical Genetics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy

7. Genomic Medicine, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy

8. IRCCS-Fondazione Bietti, 00198 Rome, Italy

9. Consiglio Nazionale delle Ricerche, Istituto di Neuroscienze, 56127 Pisa, Italy

Abstract

Background. Eyes shut homolog (EYS) gene mutations are estimated to affect at least 5% of patients with autosomal recessive retinitis pigmentosa. Since there is no mammalian model of human EYS disease, it is important to investigate its age-related changes and the degree of central retinal impairment. Methods. A cohort of EYS patients was studied. They underwent full ophthalmic examination as well as assessment of retinal function and structure, by full-field and focal electroretinograms (ERGs) and spectral domain optical coherence tomography (OCT), respectively. The disease severity stage was determined by the RP stage scoring system (RP-SSS). Central retina atrophy (CRA) was estimated from the automatically calculated area of the sub-retinal pigment epithelium (RPE) illumination (SRI). Results. The RP-SSS was positively correlated with age, showing an advanced severity score (≥8) at an age of 45 and a disease duration of 15 years. The RP-SSS was positively correlated with the CRA area. LogMAR visual acuity and ellipsoid zone width, but not ERG, were correlated with CRA. Conclusions. In EYS-related disease, the RP-SSS showed advanced severity at a relative early age and was correlated with the central area of the RPE/photoreceptor atrophy. These correlations may be relevant in view of therapeutic interventions aimed at rescuing rods and cones in EYS-retinopathy.

Funder

Retina Italia ODV

Publisher

MDPI AG

Subject

Clinical Biochemistry

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