Retinitis Pigmentosa 14

Alternative Names

  • RP14

Associated Genes

Tubby-Like Protein 1
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

600132

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p21.31

Description

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders characterized by progressive loss of vision and night-blindness. Etiologically, the disorder can be classified as a cone-rod dystrophy caused by apoptotic changes in the photoreceptor cells of the eye. Clinically, affected patients begin to show the symptoms of nyctalopia and vision loss in early adulthood. The latter usually begins early on as a peripheral vision loss, resulting in tunnel vision. Over time, however, the condition may progress to include central vision loss as well. Photopsia, or the visual perception of flashes of light, is also seen in many patients. Although RP is usually found in isolation, it can also form a part of several syndromic conditions, such as Usher syndrome, Kearn Sayre syndrome, and abetalipoproteinemia.

RP is a fairly common disorder, affecting approximately 1 in 4,000 individuals. Although the disease is not curable, techniques are available to ameliorate the condition. Night vision difficulties can be eased with the help of ocular devices. Clinical trials are underway to test new treatment strategies, including the use of vitamin A and omega-3 fatty acids in the treatment of RP. Doctors recommend annual eye examinations and evaluations for patients since there may be a tendency for affected patients to develop cataracts and/or retinal swelling.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600132.1Saudi ArabiaUnknownNo Retinal dystrophyNM_003322.6:c.1256G>AHomozygousAutosomal, RecessivePatel et al. 2016
600132.G.1Saudi ArabiaUnknownYes Rod-cone dystrophyNM_003322.6:c.1495+1G>AHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
600132.G.2Saudi ArabiaUnknownNo Rod-cone dystrophyNM_003322.6:c.901C>THomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
600132.G.3Saudi ArabiaUnknownNo Rod-cone dystrophyNM_003322.6:c.901C>THomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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