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.

Case report

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, …