title: A Review of Secondary Photoreceptor Degenerations in Systemic Disease.
abstract: Photoreceptor neuronal degenerations are common and incurable causes of human blindness with one in 2000 affected. Approximately, half of all patients are associated with known mutations in more than 200 disease genes. Most retinal degenerations are restricted to the retina (primary retinal degeneration) but photoreceptor degeneration can also be found in a wide variety of systemic and syndromic diseases. These are called secondary retinal degenerations. We review several well-known systemic diseases with retinal degenerations (RD). We discuss RD with hearing loss, RD with brain disease, and RD with musculoskeletal disease. We then postulate which retinal degenerations may also have previously undetected systemic features. Emerging new and exciting evidence is showing that ubiquitously expressed genes associated with multitissue syndromic disorders may also harbor mutations that cause isolated primary retinal degeneration. Examples are RPGR, CEP290, CLN3, MFSD5, and HK1 mutations that cause a wide variety of primary retinal degenerations with intact systems.
authors.affiliation: Department of Paediatric Surgery, Human Genetics and Ophthalmology, McGill University, Montreal, Quebec H3A 1A1, Canada McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Naveen
authors.initials: N
authors.lastname: Mysore
authors.affiliation: McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Jamie
authors.initials: J
authors.lastname: Koenekoop
authors.affiliation: McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Shen
authors.initials: S
authors.lastname: Li
authors.affiliation: McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Huanan
authors.initials: H
authors.lastname: Ren
authors.affiliation: McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Vafa
authors.initials: V
authors.lastname: Keser
authors.affiliation: McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Irma
authors.initials: I
authors.lastname: Lopez-Solache
authors.affiliation: Department of Paediatric Surgery, Human Genetics and Ophthalmology, McGill University, Montreal, Quebec H3A 1A1, Canada McGill Ocular Genetics Laboratory, Montreal, Quebec H3H 1P3, Canada Faculty of Medicine, Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada Montreal Children's Hospital Research Institute, Montreal, Quebec H3H 1P3, Canada.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Koenekoop
mesh_terms: D001927:Brain Diseases / Q000150:complications; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D009140:Musculoskeletal Diseases / Q000150:complications; D012162:Retinal Degeneration / Q000209:etiology* / Q000235:genetics