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Signs

Mottling of the retinal pigment epithelium with black bone-spicule pigmentation is typically indicative (or pathognomonic) of retinitis pigmentosa. Other ocular features include waxy pallor of the optic nerve head, attenuation (thinning) of the retinal vessels, cellophane maculopathy, cystic macular edema and posterior subcapsular cataract.

Diagnosis

The diagnosis of retinitis pigmentosa relies upon documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing. The mode of inheritance of RP is determined by family history. At least 35 different genes or loci are known to cause "nonsyndromic RP" (RP that is not the result of another disease or part of a wider syndrome).

DNA testing is available on a clinical basis for:

RLBP1 (autosomal recessive, Bothnia type RP)

RP1 (autosomal dominant, RP1)

RHO (autosomal dominant, RP4)

RDS (autosomal dominant, RP7)

PRPF8 (autosomal dominant, RP13)

PRPF3 (autosomal dominant, RP18)

CRB1 (autosomal recessive, RP12)

ABCA4 (autosomal recessive, RP19)

RPE65 (autosomal recessive, RP20)

For all other genes, molecular genetic testing is available on a research basis only.

RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. X-linked RP can be either recessive, affecting primarily only males, or dominant, affecting both males and females, although males are usually more mildly affected. Some digenic (controlled by two genes) and mitochondrial forms have also been described.

Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing.

Associations

Retinitis pigmentosa is seen in a variety of diseases, so the differential of this sign alone, is broad.

RP combined with progressive deafness is called Usher syndrome.

RP combined with opthalmoplegia, dysphagia, ataxia, and cardiac conduction defects is seen in the mitochondrial DNA disorder Kearns-Sayre Syndrome (aka Ragged Red Fiber Myopathy)

RP combined with retardation, peripheral neuropathy, acanthotic (spiked) RBCs, ataxia, steatorrhea, is absence of VLDL is seen in abetalipoproteinemia.

Other conditions include neurosyphilis, toxoplasmosis(Emedicine "Retinitis Pigmentosa"), abetalipoproteinemia, and Refsum's disease.

Genetics

Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal degeneration. This disorder is characterized by the progressive loss of photoreceptor cells and may eventually lead to blindness.

There are multiple genes that, when mutated, can cause the Retinitis pigmentosa phenotype. In 1989, a mutation of the gene for rhodopsin, a pigment that plays an essential part in the visual transduction cascade enabling vision in low-light conditions, was identified. Since then, more than 100 mutations have been found in this gene, accounting for 15% of all types of retinal degeneration. Most of those mutations are missense mutations and inherited mostly in a dominant manner.

The rhodopsin gene encodes a principal protein of photoreceptor outer segments. Studies show that mutations in this gene are responsible for approximately 25% of autosomal dominant forms of RP.

Mutations in four pre-mRNA splicing factors are known to cause autosomal dominant retinitis pigmentosa. These are PRPF3, PRPF8, PRPF31 and PAP1. These factors are ubiquitously expressed and it is still a puzzle as to why defects in a ubiquitous factor should only cause disease in the retina.

Up to 150 mutations have been reported to date in the opsin gene associated with the RP since the Pro23His mutation in the intradiscal domain of the protein was first reported in 1990. These mutations are found throughout the opsin gene and are distributed along the three domains of the protein (the intradiscal, transmembrane, and cytoplasmic domains). One of the main biochemical causes of RP in the case of rhodopsin mutations is protein misfolding, and molecular chaperones have also been involved in RP. It was found that the mutation of codon 23 in the rhodopsin gene, in which proline is changed to histidine, accounts for the largest fraction of rhodopsin mutations in the United States. Several other studies have reported other mutations which also correlate with the disease. These mutations include Thr58Arg, Pro347Leu, Pro347Ser, as well as deletion of Ile-255. In 2000, a rare mutation in codon 23 was reported causing autosomal dominant retinitis pigmentosa, in which proline changed to alanine. However, this study showed that the retinal dystrophy associated with this mutation was characteristically mild in presentation and course. Furthermore, there was greater preservation in electroretinography amplitudes than the more prevalent Pro23His mutation.

The progression of the disease can be reduced by the daily intake of 15000 IU (equivalent to 4.5 mg) of vitamin A palmitate. Recent studies have shown that proper vitamin A supplementation can postpone blindness by up to 10 years. Scientists continue to investigate possible treatments. Future treatments may involve retinal transplants, artificial retinal implants, gene therapy, stem cells, nutritional supplements, and/or drug therapies.

Scientists at the Osaka Bioscience Institute have identified a protein, named Pikachurin, which they believe could lead to a treatment for retinitis pigmentosa.

In a study published in the journal Nature, researchers working with mice at the University College London Institutes of Ophthalmology and Child Health and Moorfields Eye Hospital, transplanted mouse stem cells which were at an advanced stage of development, and already programmed to develop into photoreceptors, into mice that had been genetically induced to mimic the human conditions of retinitis pigmentosa and age-related macular degeneration. These photoreceptors developed and made the necessary neural connections to the animal's retinal nerve cells, a key step in the restoration of sight. Previously it was believed that the mature retina has no regenerative ability. This research may in the future lead to using transplants in humans to relieve blindness.

Notable people with RP

Willie Brown, former Mayor of San Francisco

Gordon Gund, U.S. sports team owner

Kevin James, American comedian/actor

Jim Knipfel, American novelist, autobiographer, and journalist

Amar Latif Scottish entrepreneur, television actor, director and motivational speaker

Isaac Lidsky, former child actor and first blind US Supreme Court clerk

Woody Shaw, American jazz musician

Amanda Swafford, America's Next Top Model Cycle 3

John Totleben, American illustrator

Rigo Tovar, Mexican singer, composer, songwriter

Mildred Weisenfeld, founder of the Fight for Sight eye research foundation in 1946.

Steve Wynn, Las Vegas casino developer

See also

Cone dystrophy

Visual prosthetic

List of eye diseases and disorders

Progressive retinal atrophy for the condition in dogs

References

^ Koenekoop, R.K. (2003). Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. American journal of ophthalmology 136(4), pp. 678-68

^ a b Hartong DT, Berson EL, Dryja TP (November 2006). "Retinitis pigmentosa". Lancet 368 (9549): 1795809. doi:10.1016/S0140-6736(06)69740-7. PMID 17113430. 

^ Farrar GJ, Kenna PF, Humphries P (March 2002). "On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention". EMBO J. 21 (5): 85764. doi:10.1093/emboj/21.5.857. PMID 11867514. 

^ Online 'Mendelian Inheritance in Man' (OMIM) RETINITIS PIGMENTOSA; RP -268000

^ a b Berson EL, Rosner B, Sandberg MA, Dryja TP (January 1991). "Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His)". Arch. Ophthalmol. 109 (1): 92101. PMID 1987956. 

^ Senin II, Bosch L, Ramon E, et al. (October 2006). "Ca2+/recoverin dependent regulation of phosphorylation of the rhodopsin mutant R135L associated with retinitis pigmentosa". Biochem. Biophys. Res. Commun. 349 (1): 34552. doi:10.1016/j.bbrc.2006.08.048. PMID 16934219. 

^ Dryja TP, McGee TL, Reichel E, et al. (January 1990). "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa". Nature 343 (6256): 3646. doi:10.1038/343364a0. PMID 2137202. 

^ Dryja TP, McGee TL, Hahn LB, et al. (November 1990). "Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa". N. Engl. J. Med. 323 (19): 13027. PMID 2215617. 

^ Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP (May 1991). "Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine". Am. J. Ophthalmol. 111 (5): 61423. PMID 2021172. 

^ Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS (January 1991). "A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa". Am. J. Hum. Genet. 48 (1): 2630. PMID 1985460. 

^ Oh KT, Weleber RG, Lotery A, Oh DM, Billingslea AM, Stone EM (September 2000). "Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation". Arch. Ophthalmol. 118 (9): 126976. PMID 10980774. http://archopht.ama-assn.org/cgi/pmidlookup?view=long&pmid=10980774. 

^ Berson EL, Rosner B, Sandberg MA, et al. (1993). "A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa". Arch. Ophthalmol. 111 (6): 76172. PMID 8512476. 

^ Berson EL (2007). "Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture". Exp. Eye Res. 85 (1): 714. doi:10.1016/j.exer.2007.03.001. PMID 17531222. 

^ Rush University Medical Center (2005-01-31). "Ophthalmologists Implant Five Patients with Artificial Silicon Retina Microchip To Treat Vision Loss from Retinitis Pigmentosa". Press release. http://www.rush.edu/webapps/MEDREL/servlet/NewsRelease?ID=608. Retrieved 2007-06-16. 

^ Sato S, Omori Y, Katoh K, et al. (August 2008). "Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation". Nat. Neurosci. 11 (8): 923931. doi:10.1038/nn.2160. PMID 18641643. 

^ Lightning-Fast Vision Protein Named After Pikachu July 24, 2008

^ MacLaren, RE; RA Pearson, A MacNeil, RH Douglas, TE Salt, M Akimoto, A Swaroop, JC Sowden, RR Ali (2006-11-09). "Retinal repair by transplantation of photoreceptor precursors". Nature 444 (7116): 2037. doi:10.1038/nature05161. PMID 17093405. 

^ http://www.newyorker.com/archive/2006/10/23/061023ta_talk_paumgarten

External links

Media related to retinitis pigmentosa at Wikimedia Commons

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v  d  e

Eye disease  pathology of the eye (H00-H59, 360-379)

Adnexa

eyelid: inflammation (Stye, Chalazion, Blepharitis)  Entropion  Ectropion  Lagophthalmos  Blepharochalasis  Ptosis  Blepharophimosis  Xanthelasma  eyelash (Trichiasis, Madarosis)

lacrimal system: Dacryoadenitis  Epiphora  Dacryocystitis  Xerophthalmia

orbit: Exophthalmos  Enophthalmos  Orbital cellulitis

conjunctiva: Conjunctivitis (Allergic conjunctivitis)  Pterygium  Pinguecula  Subconjunctival hemorrhage

Globe

Fibrous tunic

sclera: Scleritis

cornea: Keratitis (Herpetic keratitis, Acanthamoeba keratitis, Fungal keratitis)  Corneal ulcer  Snow blindness  Thygeson's superficial punctate keratopathy  Corneal dystrophy (Fuchs', Meesmann)  Keratoconus  Keratoconjunctivitis sicca  Arc eye  Keratoconjunctivitis  Corneal neovascularization   Kayser-Fleischer ring  Arcus senilis  Band keratopathy

Vascular tunic

Iris and ciliary body

Iritis  Uveitis (Intermediate uveitis)  Iridocyclitis  Hyphema  Rubeosis iridis  Persistent pupillary membrane  Iridodialysis  Synechia

Choroid

Choroideremia  Choroiditis (Chorioretinitis)

Lens

Cataract  Aphakia  Ectopia lentis

Retina

Retinitis (Chorioretinitis, Cytomegalovirus retinitis)  Retinal detachment  Retinoschisis  Ocular ischemic syndrome/Central retinal vein occlusion  Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity)  Macular degeneration  Retinitis pigmentosa  Retinal haemorrhage  Central serous retinopathy  Macular edema  Epiretinal membrane  Macular pucker  Vitelliform macular dystrophy  Leber's congenital amaurosis  Birdshot chorioretinopathy

Other

Glaucoma/Ocular hypertension  Floater  Leber's hereditary optic neuropathy  Red eye  Keratomycosis  Phthisis bulbi

Pathways

Optic nerve and

visual pathways

Optic neuritis  Papilledema  Optic atrophy  Leber's hereditary optic neuropathy  Dominant optic atrophy  Optic disc drusen  Glaucoma  Toxic and nutritional optic neuropathy  Anterior ischemic optic neuropathy

Ocular muscles,

binocular movement,

accommodation

and refraction

Paralytic strabismus: Ophthalmoparesis  Progressive external ophthalmoplegia  Palsy (III, IV, VI)  Kearns-Sayre syndrome

Other strabismus: Esotropia/Exotropia  Hypertropia  Heterophoria (Esophoria, Exophoria)  Brown's syndrome  Duane syndrome

Other binocular: Conjugate gaze palsy  Convergence insufficiency  Internuclear ophthalmoplegia  One and a half syndrome

Refractive error: Hyperopia/Myopia  Astigmatism  Anisometropia/Aniseikonia  Presbyopia

Visual disturbances

and blindness

Amblyopia  Leber's congenital amaurosis   Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma)  Diplopia  Scotoma  Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia)  Color blindness (Achromatopsia, Dichromacy, Monochromacy)  Nyctalopia (Oguchi disease)  Blindness/Low vision

Pupil

Anisocoria  Argyll Robertson pupil  Marcus Gunn pupil  Adie syndrome  Miosis  Mydriasis  Cycloplegia

Other

Nystagmus

Eye infections

Trachoma  Onchocerciasis

eye navs: anat/adnexa anat/pathways/physio/dev, noncongen/congen/neoplasia, eponymous signs, proc

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