Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss.
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 cell 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)
Treatment:
Although incurable, 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 (by reducing the 10% loss pa to 8.3% pa),
Associations:
Retinitis pigmentosa is seen in a variety of diseases, so the differential of this sign alone, is broad.
- RP combined with deafness (congenital or progressive) 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.
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