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Retinitis pigmentosa 23(RP23)

MedGen UID:
238456
Concept ID:
C1419610
Disease or Syndrome
Synonyms: RP 23; RP23
 
Gene (location): OFD1 (Xp22.2)
 
Monarch Initiative: MONDO:0010320
OMIM®: 300424

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene. [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.
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Eccentric visual fixation
MedGen UID:
1624962
Concept ID:
C0262461
Finding
A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.
Absent foveal reflex
MedGen UID:
602333
Concept ID:
C0423420
Finding
Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Severely reduced visual acuity
MedGen UID:
226987
Concept ID:
C1301509
Disease or Syndrome
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.
Mild myopia
MedGen UID:
326743
Concept ID:
C1840455
Finding
A mild form of myopia with up to -3.00 diopters.
Retinal pigment epithelial atrophy
MedGen UID:
333564
Concept ID:
C1840457
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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.

Professional guidelines

PubMed

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
Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193
Bakthavatchalam M, Lai FHP, Rong SS, Ng DS, Brelen ME
Surv Ophthalmol 2018 May-Jun;63(3):329-339. Epub 2017 Oct 5 doi: 10.1016/j.survophthal.2017.09.009. PMID: 28987613

Recent clinical studies

Etiology

Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article
Refson K, Jackson AJ, Dusoir AE, Archer DB
Br J Ophthalmol 1999 Apr;83(4):470-7. doi: 10.1136/bjo.83.4.470. PMID: 10434873Free PMC Article

Diagnosis

Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article
Refson K, Jackson AJ, Dusoir AE, Archer DB
Br J Ophthalmol 1999 Apr;83(4):470-7. doi: 10.1136/bjo.83.4.470. PMID: 10434873Free PMC Article
Bird AC
Br J Ophthalmol 1975 Apr;59(4):177-99. doi: 10.1136/bjo.59.4.177. PMID: 1138842Free PMC Article

Therapy

Refson K, Jackson AJ, Dusoir AE, Archer DB
Br J Ophthalmol 1999 Apr;83(4):470-7. doi: 10.1136/bjo.83.4.470. PMID: 10434873Free PMC Article

Clinical prediction guides

Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article

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