Abstract
Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease.
Highlights
Usher syndrome type 2 (USH2) is a genetic disease characterized by congenital or early bilateral neuro-sensory hypoacusia and later onset of night blindness, visual acuity loss and constricted visual field due to co-occurring retinitis pigmentosa (RP)
The present study was designed to evaluate, in Usher syndrome type 2A (USH2A)-related retinal degeneration, The present study was designed to evaluate, in USH2A-related retinal degeneration, the progression stage of disease, and to correlate this stage with age and morphoadditional morthe progression stage of disease, and to correlate this stage with age and additional pho-functional parameters not included in the model of the staging scheme proposed by functional parameters not included in the model of the staging scheme proposed by Iftikhar
The results showed that both the cumulative staging score and staging staging grade were positively correlated with age of patients and were significantly grade were positively correlated with age of patients and were significantly correlated the additional morpho-functional parameters
Summary
Usher syndrome type 2 (USH2) is a genetic disease characterized by congenital or early bilateral neuro-sensory hypoacusia and later onset of night blindness, visual acuity loss and constricted visual field due to co-occurring retinitis pigmentosa (RP). USH2 is the most common cause of deaf-blindness and the most frequent form of recessive RP, comprising 18% of all RP [1]. USH2 is genetically heterogeneous [2,3,4,5]. USH2 is characterized by a lack of vestibular deficits, mild to generally moderate degrees of congenital neurosensory hearing loss and RP onset usually in the second decade of life. In USH2 patients, RP symptoms typically start with a concentric visual field loss, while visual acuity can be relatively well-preserved for a long time [6,7]. Progression of visual field loss may occur at a much faster rate than losses in visual acuity or cone-mediated central light-adapted perimetry [6,7,8]
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