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Retinitis pigmentosa 68(RP68)

MedGen UID:: 816710
•Concept ID:: C3810380
•: Disease or Syndrome

Synonym:	RP68

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC7A14 (3q26.2)

Monarch Initiative:	MONDO:0014323
OMIM®:	615725

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene. [from MONDO]

Clinical features

From HPO

Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

See: Feature record | Search on this feature

Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

See: Feature record | Search on this feature

Retinal atrophy

MedGen UID:: 101075
•Concept ID:: C0521694
•: Disease or Syndrome

Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.

See: Feature record | Search on this feature

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).

See: Feature record | Search on this feature

Visual field defect

MedGen UID:: 854603
•Concept ID:: C3887875
•: Finding

An absolute or relative reduction in the extent of the normal field of vision.

See: Feature record | Search on this feature

Rod-cone dystrophy

MedGen UID:: 1632921
•Concept ID:: C4551714
•: Disease or Syndrome

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

See: Feature record | Search on this feature

Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRetinitis pigmentosa

Pathological process
- Disease
  - Disorder by Site
    - Disorder of orbital region
      - Hereditary eye diseases
        Retinitis pigmentosa
        Retinitis pigmentosa 68

Professional guidelines

PubMed

Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066

Clinical/Demographic Functional Testing and Multimodal Imaging Differences between Genetically Solved and Unsolved Retinitis Pigmentosa.

Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, Saraiva J, Silva R
Ophthalmologica 2022;245(2):134-143. Epub 2021 Oct 25 doi: 10.1159/000520305. PMID: 34695833

Management of retinitis pigmentosa by Wharton's jelly derived mesenchymal stem cells: preliminary clinical results.

Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872 Free PMC Article

See all (13)

Recent clinical studies

Etiology

VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA.

Vezinaw CM, Fishman GA, McAnany JJ
Retina 2020 Aug;40(8):1630-1633. doi: 10.1097/IAE.0000000000002649. PMID: 31568063

CHOROIDAL STRUCTURE ALTERED BY DEGENERATION OF RETINA IN EYES WITH RETINITIS PIGMENTOSA.

Kawano H, Sonoda S, Saito S, Terasaki H, Sakamoto T
Retina 2017 Nov;37(11):2175-2182. doi: 10.1097/IAE.0000000000001465. PMID: 28098731

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM
Orphanet J Rare Dis 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7. PMID: 25404053 Free PMC Article

Endothelin-1 plasma concentrations in patients with retinitis pigmentosa.

Vingolo EM, Lupo S, Grenga PL, Salvatore S, Zinnamosca L, Cotesta D, Petramala L, Letizia C
Regul Pept 2010 Feb 25;160(1-3):64-7. Epub 2009 Dec 11 doi: 10.1016/j.regpep.2009.12.006. PMID: 20005906

A genetic analysis of retinitis pigmentosa.

Boughman JA, Fishman GA
Br J Ophthalmol 1983 Jul;67(7):449-54. doi: 10.1136/bjo.67.7.449. PMID: 6860611 Free PMC Article

See all (85)

Diagnosis

Ocular genetics in the Japanese population.

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608 Free PMC Article

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315 Free PMC Article

Retinitis pigmentosa with bilateral irido-fundal coloboma.

Daggula DB, Adusumilli HB, Penmetsa KC, Nekkanti VB, Mahindrakar A
Indian J Ophthalmol 2020 Oct;68(10):2230-2231. doi: 10.4103/ijo.IJO_204_20. PMID: 32971656 Free PMC Article

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G
Sci Rep 2017 Feb 3;7:41937. doi: 10.1038/srep41937. PMID: 28157192 Free PMC Article

A genetic analysis of retinitis pigmentosa.

Boughman JA, Fishman GA
Br J Ophthalmol 1983 Jul;67(7):449-54. doi: 10.1136/bjo.67.7.449. PMID: 6860611 Free PMC Article

See all (97)

Therapy

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090 Free PMC Article

Variability and Errors of Manually Digitized Goldmann Visual Fields.

Barry MP, Bittner AK, Yang L, Marcus R, Iftikhar MH, Dagnelie G
Optom Vis Sci 2016 Jul;93(7):720-30. doi: 10.1097/OPX.0000000000000869. PMID: 27058594 Free PMC Article

Biosynthesis, characterization, and efficacy in retinal degenerative diseases of lens epithelium-derived growth factor fragment (LEDGF1-326), a novel therapeutic protein.

Baid R, Upadhyay AK, Shinohara T, Kompella UB
J Biol Chem 2013 Jun 14;288(24):17372-83. Epub 2013 May 2 doi: 10.1074/jbc.M112.441618. PMID: 23640891 Free PMC Article

Usher syndrome and psychiatric symptoms: a challenge in psychiatric management.

Rijavec N, Grubic VN
Psychiatr Danub 2009 Mar;21(1):68-71. PMID: 19270624

A pilot study of topical treatment with an alpha2-agonist in patients with retinal dystrophies.

Merin S, Obolensky A, Farber MD, Chowers I
J Ocul Pharmacol Ther 2008 Feb;24(1):80-6. doi: 10.1089/jop.2007.0022. PMID: 18201138

See all (19)

Prognosis

Ocular genetics in the Japanese population.

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608 Free PMC Article

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL
BMC Med Genet 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. PMID: 31046701 Free PMC Article

CHOROIDAL STRUCTURE ALTERED BY DEGENERATION OF RETINA IN EYES WITH RETINITIS PIGMENTOSA.

Kawano H, Sonoda S, Saito S, Terasaki H, Sakamoto T
Retina 2017 Nov;37(11):2175-2182. doi: 10.1097/IAE.0000000000001465. PMID: 28098731

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?

Friedrich U, Warburg M, Jørgensen AL
Hum Genet 1993 Oct;92(4):359-63. doi: 10.1007/BF01247335. PMID: 8225316

See all (47)

Clinical prediction guides

Discovery of 4-sulfamoyl-phenyl-β-lactams as a new class of potent carbonic anhydrase isoforms I, II, IV and VII inhibitors: The first example of subnanomolar CA IV inhibitors.

Angapelly S, Ramya PV, Angeli A, Monti SM, Buonanno M, Alvala M, Supuran CT, Arifuddin M
Bioorg Med Chem 2017 Jan 15;25(2):539-544. Epub 2016 Nov 19 doi: 10.1016/j.bmc.2016.11.027. PMID: 27919611

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283 Free PMC Article

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137 Free PMC Article

Usher syndrome and psychiatric symptoms: a challenge in psychiatric management.

Rijavec N, Grubic VN
Psychiatr Danub 2009 Mar;21(1):68-71. PMID: 19270624

Immunohistochemical demonstration of mitochondria in routinely processed tissue using a monoclonal antibody.

Paulus W, Lehr A, Peiffer J, Markovic A, Wiedmann KH
J Pathol 1990 Apr;160(4):321-8. doi: 10.1002/path.1711600408. PMID: 2113576

See all (62)