June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Clinical, functional and imaging findings in autosomal dominant retinitis pigmentosa (ADRP) due to the P23H rhodopsin mutation
Author Affiliations & Notes
  • Alfonso Senatore
    Center for Retinal Degenerations and Ophthalmic Genetic Diseases, Duke University Eye Center, Durham, North Carolina, United States
    Ophthalmology, “G. D’Annunzio” University, Chieti, Italy
  • Marilyn Ann Marquez
    Center for Retinal Degenerations and Ophthalmic Genetic Diseases, Duke University Eye Center, Durham, North Carolina, United States
  • Roberto Gattegna
    Center for Retinal Degenerations and Ophthalmic Genetic Diseases, Duke University Eye Center, Durham, North Carolina, United States
    Retina Service, Israelitic Hospital, Rome, Italy
  • Alessandro Iannaccone
    Center for Retinal Degenerations and Ophthalmic Genetic Diseases, Duke University Eye Center, Durham, North Carolina, United States
  • Footnotes
    Commercial Relationships   Alfonso Senatore, None; Marilyn Marquez, None; Roberto Gattegna, None; Alessandro Iannaccone, None
  • Footnotes
    Support  Research to Prevent Blindness, Inc. New York, NY (Unrestricted grant to Duke Eye Center), Duke Retinal Degenerations Research Fund, and Duke Retina Genetics Research Fund
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 3034. doi:
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      Alfonso Senatore, Marilyn Ann Marquez, Roberto Gattegna, Alessandro Iannaccone; Clinical, functional and imaging findings in autosomal dominant retinitis pigmentosa (ADRP) due to the P23H rhodopsin mutation. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3034.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To further characterize the ADRP phenotype associated with the P23H rhodopsin mutation and improve our understanding of its long-term prognosis.

Methods : We investigated in detail in 18 affected patients (age: 49±18, 8M/10F) the manifestations, phenotype class, and variability in ADRP severity characterizing symptoms of onset, best corrected visual acuity (BCVA), full-field electroretinogram (ffERG), kinetic perimetry (KP), spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and photography. Furthermore, we analyzed longitudinal data available for 4 of our patients and compared our findings with previously published data from the literature (n=42).

Results : P23H patients initially exhibited a Class B1 phenotype, with regional/altitudinal retinal changes and KP loss, and good ffERG preservation, only later evolving to a more severe and diffuse (Class B2) presentation – yet with partial ffERG response preservation. Peripheral metallic tapetal-like reflexes characterized pre- or minimally symptomatic cases. Hyper-AF bands on FAF imaging had a close correlation with visual field I4e detection limits. Furthermore, the limits of the external limiting membrane (ELM) and ellipsoid zone (EZ) on SD-OCT corresponded closely with the outer and inner boundaries respectively of the hyper-AF band. Desensitized but persistent vision on KP was also present outside the boundaries of the hyper-AF bands. SD-OCT also showed a consistent asymmetry in the ONL thickness between the inferior and the superior hemiretinas, present also at the pre-symptomatic stage. Cystoid macular edema (CME) was seen in 6 cases and was visually significant (and responsive to treatment) in 3. An unusual amount of macular geographic-like damage was observed in 2 patients with choroidal thinning. Trend lines and curves for BCVA and ERG b-wave decline for our patients were parallel, although shifted upward, to the literature data.

Conclusions : In our case series we confirm the general Class-B characteristics and evolution associated with P23H rhodopsin-linked ADRP. The long-term prognosis for central vision is overall favorable, except in cases with macular atrophy. CME is common but a treatable and rarely significant complication. Due to its close correlation with best visual function (KP) and microanatomy (SD-OCT), FAF may represent a useful outcome measure in treatment trials.

This is a 2020 ARVO Annual Meeting abstract.

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