PMC9846957_01
Clinical and multimodal findings of a 21 years old male with homozygous c. 3061-6_3061-3del (NM_006445.3) mutation in pre-mRNA processing factor 8 (PRPF8) 2 weeks after presenting with IU in the right eye. (a) Shows mild vitreous haze with bone spicules, attenuated blood vessels, and healthy optic discs in the right eye. (b) Shows less density of bone spicules, attenuated blood vessels, and healthy optic discs. (c and d) are FAF photos of the right and left eyes, respectively, showing hypofluorescence corresponding to the bone spicules and hyperfluorescent ring in the macular region. (e) SD-OCT showing loss of photoreceptors beyond the macular area with a few vitreous cells. (f) SD-OCT of the left eye showing loss of photoreceptors beyond the macular area. IU: Intermediate uveitis, FAF: fundus autofluorescence, SD-OCT: Spectral-domain optical coherence tomography
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F1
Two weeks after initiating therapy, BCVA had improved to 20/30 in the right eye with few vitreous cells and more densely distributed bone spicules than in the left eye [Figure 1a and b]. Fundus autofluorescence indicated hypofluorescent areas corresponding to bone spicules and hyperfluorescent rings in the macular region in both eyes [Figure 1c and d]. Spectral-domain optical coherence tomography indicated photoreceptor loss beyond the macular area bilaterally and a few vitreous cells in the right eye [Figure 1e and f].
Bilateral ffERG of a 21-year-old male with homozygous. 3061-6_3061-3del (NM_006445.3) mutation in PRPF8. a, b, c and d showing reduced scotopic and photopic responses in both eyes with more than profoundly reduced responses in the right eye. ffERG: Full field electroretinograms
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F2
Fundus full-field electroretinogram indicated profoundly reduced scotopic and photopic responses in both eyes with a greater reduction in the right eye [Figure 2].