Retinitis Pigmentosa due to IMPDH1 gene mutation: A Case Report
Abstract
Introduction: Retinitis pigmentosa (RP) consists of a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and subsequent retinal pigment deposition. RP typically presents in adolescence with night blindness and progressive peripheral vision loss. RP has a prevalence of approximately 1 in 4000 individuals and presents as isolated RP or in association with systemic disease. More than 80 genes are implicated in RP. Case Presentation: A 72-year-old male with bilateral mild primary open-angle glaucoma and past ophthalmic history significant for bilateral cataract extraction, left corneal transplant, and left corneal ulcer presented to the clinic for follow-up of longstanding typical RP. Since establishing with the practice 6 years prior, he had noted a relatively slow but intermittently progressive decline in visual acuity. At his most recent examination, the right retina showed chronic RP changes with spicules and spotty atrophy. The left retina was unable to be visualized due to chronic band keratopathy. He was recently referred for genetic testing by a retina specialist and was found to have a pathogenic IMPDH1 gene missense mutation, variant Asp311Asn. Summary: Therapeutic options for RP are limited, and patients with RP progress to severe visual impairment, though at different rates depending on genetic subtype. Pathogenic variants in inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause both autosomal dominant and recessive RP and can show a more rapid progression than other forms. Current management of RP is supportive and includes the use of photoprotection, visual aids/rehab, and dietary supplementation. While some gene-agnostic molecular therapies show promise, many therapies are gene-specific. Currently, prospective therapeutics targeting IMPDH1-associated RP only exist in preclinical murine models. This case highlights the importance of molecular diagnosis in determining prognosis and guiding management of RP, while also emphasizing the ongoing need for developing gene-agnostic and IMPDH1-specific therapies.
Start Time
15-4-2026 1:30 PM
End Time
15-4-2026 4:30 PM
Room Number
Culp Ballroom 316
Poster Number
28
Presentation Type
Poster
Presentation Subtype
Posters - Competitive
Presentation Category
Health
Student Type
Graduate and Professional Degree Students, Residents, Fellows
Faculty Mentor
Brent Aebi
Retinitis Pigmentosa due to IMPDH1 gene mutation: A Case Report
Culp Ballroom 316
Introduction: Retinitis pigmentosa (RP) consists of a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and subsequent retinal pigment deposition. RP typically presents in adolescence with night blindness and progressive peripheral vision loss. RP has a prevalence of approximately 1 in 4000 individuals and presents as isolated RP or in association with systemic disease. More than 80 genes are implicated in RP. Case Presentation: A 72-year-old male with bilateral mild primary open-angle glaucoma and past ophthalmic history significant for bilateral cataract extraction, left corneal transplant, and left corneal ulcer presented to the clinic for follow-up of longstanding typical RP. Since establishing with the practice 6 years prior, he had noted a relatively slow but intermittently progressive decline in visual acuity. At his most recent examination, the right retina showed chronic RP changes with spicules and spotty atrophy. The left retina was unable to be visualized due to chronic band keratopathy. He was recently referred for genetic testing by a retina specialist and was found to have a pathogenic IMPDH1 gene missense mutation, variant Asp311Asn. Summary: Therapeutic options for RP are limited, and patients with RP progress to severe visual impairment, though at different rates depending on genetic subtype. Pathogenic variants in inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause both autosomal dominant and recessive RP and can show a more rapid progression than other forms. Current management of RP is supportive and includes the use of photoprotection, visual aids/rehab, and dietary supplementation. While some gene-agnostic molecular therapies show promise, many therapies are gene-specific. Currently, prospective therapeutics targeting IMPDH1-associated RP only exist in preclinical murine models. This case highlights the importance of molecular diagnosis in determining prognosis and guiding management of RP, while also emphasizing the ongoing need for developing gene-agnostic and IMPDH1-specific therapies.
