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Progressive cone dystrophy (without rod involvement)

MedGen UID:
543168
•Concept ID:
C0271092
•
Disease or Syndrome
SNOMED CT: Progressive cone dystrophy (without rod involvement) (267613004)

Professional guidelines

PubMed

Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article
Laser treatment in retinitis pigmentosa-a review.
Gawęcki M
Lasers Med Sci 2020 Oct;35(8):1663-1670. Epub 2020 May 20 doi: 10.1007/s10103-020-03036-9. PMID: 32435907

Recent clinical studies

Etiology

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C
Genet Med 2024 Jun;26(6):101106. Epub 2024 Feb 28 doi: 10.1016/j.gim.2024.101106. PMID: 38420906
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543Free PMC Article
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. PMID: 30578508
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Therapy

Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.
Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article
Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy.
Hassall MM, McClements ME, Barnard AR, Patricio MÍ, Aslam SA, Maclaren RE
Int J Mol Sci 2020 Aug 22;21(17) doi: 10.3390/ijms21176055. PMID: 32842706Free PMC Article
Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
Galli-Resta L, Falsini B, Rossi G, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Campagna F, Abed E, Bertelli M, Zuntini M, Resta G
Invest Ophthalmol Vis Sci 2016 Jul 1;57(8):3759-68. doi: 10.1167/iovs.15-18313. PMID: 27415794
Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.
Lhériteau E, Petit L, Weber M, Le Meur G, Deschamps JY, Libeau L, Mendes-Madeira A, Guihal C, François A, Guyon R, Provost N, Lemoine F, Papal S, El-Amraoui A, Colle MA, Moullier P, Rolling F
Mol Ther 2014 Feb;22(2):265-277. Epub 2013 Oct 4 doi: 10.1038/mt.2013.232. PMID: 24091916Free PMC Article
Gene therapy for Leber congenital amaurosis: advances and future directions.
Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA
Graefes Arch Clin Exp Ophthalmol 2012 Aug;250(8):1117-28. Epub 2012 May 29 doi: 10.1007/s00417-012-2028-2. PMID: 22644094Free PMC Article

Prognosis

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543Free PMC Article
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM
Genes (Basel) 2022 May 22;13(5) doi: 10.3390/genes13050925. PMID: 35627310Free PMC Article
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Systemic diseases associated with retinal dystrophies.
Werdich XQ, Place EM, Pierce EA
Semin Ophthalmol 2014 Sep-Nov;29(5-6):319-28. doi: 10.3109/08820538.2014.959202. PMID: 25325857
Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
Georgiou M, Fujinami K, Robson AG, Fujinami-Yokokawa Y, Shakarchi AF, Ji MH, Uwaydat SH, Kim A, Kolesnikova M, Arno G, Pontikos N, Mahroo OA, Tsang SH, Webster AR, Michaelides M
Am J Ophthalmol 2024 Feb;258:119-129. Epub 2023 Oct 7 doi: 10.1016/j.ajo.2023.09.025. PMID: 37806543Free PMC Article
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S
Ophthalmology 2023 Apr;130(4):423-432. Epub 2022 Nov 2 doi: 10.1016/j.ophtha.2022.10.026. PMID: 36332842Free PMC Article
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM
Genes (Basel) 2022 May 22;13(5) doi: 10.3390/genes13050925. PMID: 35627310Free PMC Article
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM
Int J Mol Sci 2021 Jun 15;22(12) doi: 10.3390/ijms22126410. PMID: 34203883Free PMC Article
Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
Abad-Morales V, Burés-Jelstrup A, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcóstegui B, Pomares E
Exp Eye Res 2019 Oct;187:107752. Epub 2019 Aug 5 doi: 10.1016/j.exer.2019.107752. PMID: 31394102

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