A patient presenting with long-standing night blindness and progressive peripheral visual field constriction was referred to our retina clinic. Best-corrected visual acuity was 20/25 in both eyes. IOPs were within normal limits. Anterior segment examination demonstrated mildy posterior subcapsular opacities.
Ultra-widefield color fundus photography revealed bilateral retinal pigmentary degeneration characterized by diffuse bone-spicule pigmentation, marked attenuation of the retinal vessels, and waxy pallor of the optic discs. The macular region was relatively spared, consistent with preservation of central vision.
Ultra-widefield fundus autofluorescence revealed a well-demarcated Robson–Holder hyperautofluorescent ring encircling the preserved central macular island, together with diffuse peripheral hypoautofluorescence reflecting retinal pigment epithelium and outer retinal atrophy.
Retinitis pigmentosa is a genetically heterogeneous group of inherited retinal degenerations primarily affecting rod photoreceptors, followed by secondary cone involvement. Patients typically present with nyctalopia, progressive peripheral visual field loss, and eventually central visual impairment in advanced disease. The classical fundus appearance includes bone-spicule pigmentation, retinal arteriolar narrowing, and waxy optic disc pallor.
Fundus autofluorescence is particularly useful for documenting the topography of retinal degeneration. A parafoveal hyperautofluorescent ring often represents the transition zone between relatively preserved central retina and dysfunctional or degenerating peripheral retina. The size and integrity of this ring may correlate with preserved ellipsoid zone width and functional central retinal reserve.
The diagnosis should be supported by multimodal imaging, visual field testing, full-field electroretinography, and genetic testing when available. Genetic confirmation is important for prognosis, family counseling, inheritance pattern determination, and potential eligibility for gene-specific or mutation-independent therapeutic trials.
Credit: Kemal Tekin, M.D., from Ulucanlar Eye Training and Research Hospital
Instagram accounts: @retina.academy and @dr.kemaltekin
