Retinitis Pigmentosa 38

Alternative Names

  • RP38
  • Rod-Cone Dystrophy, Childhood-Onset
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613862

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q13

Description

Retnitis Pigmentosa comprises a heterogeneous group of retinal disorders with progressive deterioration of both rod and cone photoreceptors.  Etiologically, the disorder can be classified as a cone-rod dystrophy caused by apoptotic changes in the photoreceptor cells of the eye.  For more clinical information, please see the CTGA record on Retinitis Pigmentosa

The RP38 phenotype is one of childhood onset rod-cone dystrophy with early macular atrophy.  In addition, the Optical Coherence Tomography (OCT) appearance is also distinctive, with a loss of photoreceptors and hyper-reflective bodies, along with a wave like appearance of the innermost neurosensory retina.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612862.2.1MoroccoFemaleYesYes Visual impairment; Rod-cone dystrophy; ...NM_006343.3:c.2323C>THomozygousAutosomal, RecessiveKsantini et al, 2012
613862.1.1ArabMaleYesYes Visual impairment; Rod-cone dystrophy; ...MERTK, 9-KB DELHomozygousAutosomal, RecessiveMackay et al. 2010 Proband
613862.1.2ArabMaleYesYes Visual impairment; Rod-cone dystrophy;...MERTK, 9-KB DELHomozygousAutosomal, RecessiveMackay et al. 2010 Brother of 613862.1....
613862.2.2MoroccoMaleYesYes Visual impairment; Rod-cone dystrophy...NM_006343.3:c.2323C>THomozygousAutosomal, RecessiveKsantini et al, 2012 Brother of 613862.2....
613862.2.3MoroccoFemaleYesYes Visual impairment; Rod-cone dystroph...NM_006343.3:c.2323C>THomozygousAutosomal, RecessiveKsantini et al, 2012 Sister of 613862.2.1
613862.3.1MoroccoMaleYesYes Progressive visual loss; Cone/cone-rod...NM_006343.3:c.2189+1G>THomozygousAutosomal, RecessiveEbermann et al. 2007 Index patient (ident...
613862.3.2MoroccoMaleYesYes Progressive visual loss; Cone/cone-rod...NM_006343.3:c.2189+1G>THomozygousAutosomal, RecessiveEbermann et al. 2007 Brother of 613862.3....
613862.3.3MoroccoMaleYesYes Progressive visual loss; Cone/cone-rod...NM_006343.3:c.2189+1G>THeterozygous, HomozygousAutosomal, RecessiveEbermann et al. 2007 Brother of 613862.3....
613862.3.4MoroccoMaleYesYes Progressive visual loss; Cone/cone-ro...NM_006343.3:c.2189+1G>THeterozygous, HomozygousAutosomal, RecessiveEbermann et al. 2007 Brother of 613862.3....
613862.3.5MoroccoFemaleYesYes Progressive visual loss; Cone/cone-ro...NM_006343.3:c.2189+1G>THeterozygous, HomozygousAutosomal, RecessiveEbermann et al. 2007 Sister of 613862.3.1...
613862.4LebanonUnknown Rod-cone dystrophyNM_006343.3:c.2079+2T>G, NM_006343.3:c.1951C>THeterozygousAutosomal, RecessiveAudo et al. 2018
613862.5.1Saudi ArabiaMaleYesYes Rod-cone dystrophyNM_006343.3:c.1335_1336delAGHomozygousAutosomal, RecessiveAldahmesh et al. 2009
613862.5.2Saudi ArabiaMaleYesYes Rod-cone dystrophyNM_006343.3:c.1335_1336delAGHomozygousAutosomal, RecessiveAldahmesh et al. 2009 Brother of 613862.5....
613862.G.1Saudi ArabiaUnknownYesYes Visual impairment; Rod-cone dystrophyNM_006343.3:c.1335_1336delAGHomozygousAutosomal, RecessivePatel et al, 2018 4 family members
613862.G.2Saudi ArabiaUnknownYesYes Visual impairment; Rod-cone dystrophy;...MERTK, 9-KB DELHomozygousAutosomal, RecessiveMackay et al. 2010 5 affected members o...
613862.G.3United Arab Emirates Rod-cone dystrophyNM_006343.3:c.2214delHomozygousAutosomal, RecessiveKhan. 2020 Group of 4 patients
613862.G.4United Arab EmiratesUnknown Rod-cone dystrophyNM_006343.3:c.2214delHomozygousAutosomal, RecessiveMéjécase et al. 2020 Patient(s) from 'fam...
613862.G.5United Arab EmiratesUnknown Rod-cone dystrophyNM_006343.3:c.2214del, NM_006343.3:c.721C>THeterozygousAutosomal, RecessiveMéjécase et al. 2020 Patient(s) from 'fam...
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