{"id":1853,"date":"2026-10-20T08:53:03","date_gmt":"2026-10-20T08:53:03","guid":{"rendered":"https:\/\/laseristanbulclinic.com\/eye-glossary\/retinitis-pigmentosa\/"},"modified":"2026-10-20T12:57:17","modified_gmt":"2026-10-20T12:57:17","slug":"retinitis-pigmentosa","status":"publish","type":"page","link":"https:\/\/laseristanbulclinic.com\/en\/eye-glossary\/retinitis-pigmentosa\/","title":{"rendered":"Retinitis Pigmentosa: Inheritance, Genes, Symptoms and Treatment"},"content":{"rendered":"\n
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  4. Retinitis Pigmentosa: Inheritance, Genes, Symptoms and Treatment<\/span><\/li><\/ol><\/div>\t\t\t

    Retinitis Pigmentosa: Inheritance, Genes, Symptoms and Treatment<\/h1>\n\t\t\t\t\t\t

    Medically reviewed by {{surgeon}}<\/span><\/strong>, {{surgeon’s title and specialty}}<\/span>, on {{review date}}<\/span>. Last updated {{date}}<\/span>.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

    \"Illustration<\/figure><\/div>\n\t\t\t<\/div><\/div>\n<\/section>\n\n\n\n\n
    \n\t\t<\/svg>Definition<\/span>\n\t\t\t

    Retinitis pigmentosa (RP)<\/strong> (noun, abbreviated RP)<\/em>: retinitis pigmentosa is a group of inherited eye diseases in which the light-sensing cells of the retina slowly break down, usually starting with poor night vision and narrowing the side vision into “tunnel vision”. Retinitis pigmentosa inheritance can be recessive, dominant or X-linked, and more than 100 genes are involved, although many patients are the first in their family to be diagnosed.<\/p>\n\t\t<\/div><\/div><\/div><\/div><\/section>\n\n\n\n\n

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    Retinitis pigmentosa: key facts<\/h2><\/div>\n\t\t\t\t\t<\/div>\n\t\t\t
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    <\/svg>What it is<\/span><\/dt>
    An inherited degeneration of the retina’s rod and cone photoreceptor cells (it is not an infection, despite the “-itis” in the name)<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>How common<\/span><\/dt>
    About 1 in 3,500 to 1 in 4,000 people in the United States and Europe; the most common inherited retinal disease<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>First symptom<\/span><\/dt>
    Trouble seeing in dim light (night blindness), typically in childhood or adolescence<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>Inheritance<\/span><\/dt>
    Autosomal recessive, autosomal dominant or X-linked; rarely digenic; many cases have no known family history<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>Genes<\/span><\/dt>
    More than 100 genes; the best known are RHO<\/em> (dominant), USH2A<\/em> (recessive) and RPGR<\/em> (X-linked)<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>Cure<\/span><\/dt>
    None for most forms. One gene therapy (Luxturna) is FDA-approved for the rare RPE65 form<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>What can be treated<\/span><\/dt>
    Cataract, swelling at the macula (cystoid macular oedema), and vision support with low-vision aids<\/dd><\/dl><\/div>\n\t\t\t\t
    <\/svg>Specialist<\/span><\/dt>
    Retina specialist; at Laser Istanbul Clinic, Do\u00e7. Dr. Muhammet Derda \u00d6zer (Do\u00e7. = Associate Professor)<\/dd><\/dl><\/div>\n\t\t\t<\/div>\n\t\t<\/div><\/div><\/div><\/section>\n\n\n\n\n
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    Retinitis pigmentosa inheritance: how is RP passed on?<\/h2>\n\t\t\t

    Retinitis pigmentosa inheritance can follow three main patterns, and which one applies to a family decides the risk for children and relatives. The pattern is found through the family history and, increasingly, through genetic testing.<\/p>\n\t\t\t

    Pattern<\/th>How it works<\/th>Risk to children (Foundation Fighting Blindness)<\/th>Typical features<\/th><\/tr><\/thead>
    Autosomal recessive<\/strong><\/th>Both parents are healthy carriers of a changed gene; the child receives one copy from each<\/td>Each child of two carrier parents has a 25% chance of being affected<\/td>In one 2026 review, recessive forms were put at 50\u201360% of cases; onset is usually in the first decade<\/td><\/tr>
    Autosomal dominant<\/strong><\/th>One copy of the changed gene is enough; an affected parent passes it on<\/td>Each child of an affected parent has a 50% chance of being affected<\/td>Generally milder, and onset can be later (after age 50 in some families)<\/td><\/tr>
    X-linked<\/strong><\/th>The gene sits on the X chromosome; mothers usually carry it, sons are mainly affected<\/td>A carrier mother has a 50% chance of passing it to each child: affected sons, carrier daughters<\/td>The most severe form; starts early and often comes with short-sightedness<\/td><\/tr><\/tbody><\/table><\/div>

    Two more points families often ask about:<\/p>\n