{
    "abstract": "To determine the long-term functional and structural outcomes of intravitreal anti-VEGF therapy for macular neovascularization (MNV) in PRPH2-associated retinopathy.\nMulticenter retrospective case series including patients with molecularly confirmed PRPH2-associated retinopathy complicated by unilateral MNV. Best-corrected visual acuity (BCVA) and central subfield thickness (CST) were selected as outcome measures and compared between eyes with MNV undergoing anti-VEGF therapy and fellow eyes.\nSix patients affected by PRPH2-associated retinopathy had MNV at a median age of 55 years. Two novel PRPH2 variants were found [c.499del p.(Cys150Phefs*3), c.660dup p.(Pro221Alafs*80)]. In all patients the phenotype was characterized by a pattern dystrophy with multifocal flecks. At baseline, eyes with MNV had a median (range) BCVA (logMAR) of 0.2 (0.2 to 0.7), corresponding to 20/32 Snellen, while the median (range) CST was 320 \u03bcm (228 to 362). After a median follow-up of 6.2 years and 5.5 injections per patient, 5 (83%) eyes retained a BCVA of at least 20/32 Snellen, while CST decreased by a median (range) of -69 \u03bcm (-117 to +15). No additional CST thinning was observed in eyes with MNV compared to their fellow eyes. In 4 (67%) eyes, OCT angiography revealed large neovascular networks growing below the retinal pigment epithelium (RPE) that persisted after resolution of exudation.\nA favorable long-term outcome can be obtained in PRPH2-associated retinopathy complicated by MNV when timely intravitreal anti-VEGF therapy is administered. Further research is needed to understand the significance of sub-RPE neovascular networks.",
    "authors": [
        {
            "affiliation": "Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.\nSorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, Paris, France.\nCHNO des Quinze-Vingts, Centre de R\u00e9f\u00e9rence Maladies Rares REFERET, INSERM-DGOS CIC1423, Paris, France.",
            "firstname": "Lorenzo",
            "initials": "L",
            "lastname": "Bianco"
        },
        {
            "affiliation": "Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, Paris, France.\nCHNO des Quinze-Vingts, Centre de R\u00e9f\u00e9rence Maladies Rares REFERET, INSERM-DGOS CIC1423, Paris, France.",
            "firstname": "Isabelle",
            "initials": "I",
            "lastname": "Audo"
        },
        {
            "affiliation": "Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.\nSorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, Paris, France.\nCHNO des Quinze-Vingts, Centre de R\u00e9f\u00e9rence Maladies Rares REFERET, INSERM-DGOS CIC1423, Paris, France.",
            "firstname": "Alessio",
            "initials": "A",
            "lastname": "Antropoli"
        },
        {
            "affiliation": "Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.\nOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.\nRoyal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.",
            "firstname": "Rachael C",
            "initials": "RC",
            "lastname": "Heath Jeffery"
        },
        {
            "affiliation": "Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.\nOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.\nRoyal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.\nAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.\nCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.\nOphthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.",
            "firstname": "Fred K",
            "initials": "FK",
            "lastname": "Chen"
        },
        {
            "affiliation": "Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.\nEye Repair Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.",
            "firstname": "Alessandro",
            "initials": "A",
            "lastname": "Arrigo"
        },
        {
            "affiliation": "Department of Ophthalmology, American University of Beirut, Beirut, Lebanon.",
            "firstname": "Ahmad M",
            "initials": "AM",
            "lastname": "Mansour"
        },
        {
            "affiliation": "Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, Paris, France.",
            "firstname": "Christina",
            "initials": "C",
            "lastname": "Zeitz"
        },
        {
            "affiliation": "Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.",
            "firstname": "Francesco",
            "initials": "F",
            "lastname": "Bandello"
        },
        {
            "affiliation": "Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.",
            "firstname": "Maurizio Battaglia",
            "initials": "MB",
            "lastname": "Parodi"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.1097/IAE.0000000000004476",
    "journal": "Retina (Philadelphia, Pa.)",
    "keywords": [
        "PRPH2",
        "anti-VEGF",
        "inherited retinal diseases",
        "macular neovascularization",
        "pattern dystrophy"
    ],
    "methods": null,
    "publication_date": "2025-04-04",
    "pubmed_id": "40184549",
    "results": "Six patients affected by PRPH2-associated retinopathy had MNV at a median age of 55 years. Two novel PRPH2 variants were found [c.499del p.(Cys150Phefs*3), c.660dup p.(Pro221Alafs*80)]. In all patients the phenotype was characterized by a pattern dystrophy with multifocal flecks. At baseline, eyes with MNV had a median (range) BCVA (logMAR) of 0.2 (0.2 to 0.7), corresponding to 20/32 Snellen, while the median (range) CST was 320 \u03bcm (228 to 362). After a median follow-up of 6.2 years and 5.5 injections per patient, 5 (83%) eyes retained a BCVA of at least 20/32 Snellen, while CST decreased by a median (range) of -69 \u03bcm (-117 to +15). No additional CST thinning was observed in eyes with MNV compared to their fellow eyes. In 4 (67%) eyes, OCT angiography revealed large neovascular networks growing below the retinal pigment epithelium (RPE) that persisted after resolution of exudation.",
    "title": "LONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHY.",
    "xml": "<Element 'PubmedArticle' at 0x788505ead530>"
}