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Join date: Mar 19, 2021
Posts (116)
Jan 28, 2025 ∙ 2 min
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1.
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Nov 30, 2024 ∙ 1 min
Multigenerational Autosomal Recessive Best Disease
Retinal findings raised suspicion for this inherited retinal disease, confirmed with genetic testing.
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Jul 31, 2024 ∙ 4 min
WHEN RARE IS RELATIVE
Although the IRD patient population is small compared with other retinal conditions, the research on novel therapeutic approaches is not.
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