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Retinitis pigmentosa 32(RP32)

MedGen UID:
322781
Concept ID:
C1835927
Disease or Syndrome
Synonyms: RP 32; RP32
 
Gene (location): CLCC1 (1p13.3)
 
Monarch Initiative: MONDO:0012363
OMIM®: 609913

Definition

A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3. [from MONDO]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Photoreceptor layer loss on macular OCT
MedGen UID:
892581
Concept ID:
C4073079
Finding
Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T
Ann Afr Med 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. PMID: 38358145Free PMC Article
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. PMID: 30578505

Diagnosis

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R
Acta Ophthalmol 2020 May;98(3):286-295. Epub 2019 Aug 19 doi: 10.1111/aos.14218. PMID: 31429209
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Therapy

Yusuf IH, Burgoyne T, Salman A, McClements ME, MacLaren RE, Charbel Issa P
Mol Ther 2024 May 1;32(5):1445-1460. Epub 2024 Mar 19 doi: 10.1016/j.ymthe.2024.03.026. PMID: 38504520Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Arslan U
Lasers Med Sci 2021 Mar;36(2):317-323. Epub 2020 May 4 doi: 10.1007/s10103-020-03031-0. PMID: 32363437
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
Huckfeldt RM, Comander J
Semin Ophthalmol 2017;32(1):43-51. Epub 2016 Oct 17 doi: 10.1080/08820538.2016.1228404. PMID: 27748628

Prognosis

Antropoli A, Arrigo A, Bianco L, Cavallari E, Berni A, Casoni F, Consalez G, Bandello F, Cremona O, Battaglia Parodi M
Retina 2023 Aug 1;43(8):1348-1355. doi: 10.1097/IAE.0000000000003801. PMID: 36996465
Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R
J Neuroradiol 2016 Jun;43(3):195-9. Epub 2015 Dec 17 doi: 10.1016/j.neurad.2015.10.005. PMID: 26704672Free PMC Article
Dijkmans TF, van Hooijdonk LW, Fitzsimons CP, Vreugdenhil E
Cent Nerv Syst Agents Med Chem 2010 Mar;10(1):32-46. doi: 10.2174/187152410790780118. PMID: 20236041
Wang DY, Chan WM, Tam PO, Chiang SW, Lam DS, Chong KK, Pang CP
Hong Kong Med J 2005 Aug;11(4):281-8. PMID: 16085945
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Clinical prediction guides

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Antropoli A, Arrigo A, Bianco L, Cavallari E, Bandello F, Battaglia Parodi M
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):8. doi: 10.1167/iovs.64.12.8. PMID: 37669062Free PMC Article
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052374. PMID: 33673512Free PMC Article

Recent systematic reviews

Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096Free PMC Article
Zafar S, Ahmad K, Ali A, Baig R
J Pak Med Assoc 2017 Nov;67(11):1734-1739. PMID: 29171570

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