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Retinitis pigmentosa is a genetically heterogeneous group of progressive retinal degenerations.1 Autosomal recessive retinitis pigmentosa caused by mutations in the gene encoding the β-subunit of rod photoreceptor cyclic guanosine monophosphate-phosphodiesterase (PDE6B) was one of the first forms to be identified, and there are well-studied murine and canine animal models as well as proof-of-concept success of somatic gene therapy.1–4 Rapid rod photoreceptor degeneration in the animal models is complicated by morphological changes involving the inner retina.5,6 It is unknown, however, whether the human form of retinitis pigmentosa is also complicated by retinal remodelling; the answer could have implications for treatment potential. We used optical coherence tomography (OCT) to study the retina of a patient with retinitis pigmentosa with a known PDE6B null mutation,7 and found there was abnormal laminar architecture suggesting retinal remodelling.
A 25-year-old woman with retinitis pigmentosa was homozygous for the Cys270X mutation in PDE6B. There was no rod function and only severely impaired cone function.7
At 34 years of age, …