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      Specialty ophthalmology

      Boldly taking on inherited retinal diseases

      May 14, 2024
      1 min read
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      - About 1 in 2000 people have inherited retinal diseases based on global estimates
      - Less than 270 genes related to inherited retinal diseases have been identified to date

      Inherited retinal diseases (IRDs) are a group of rare eye disorders that can lead to serious vision impairment or loss. Note that inherited retinal diseases are sometimes also referred to as inherited retinal dystrophies or degenerations. These conditions can occur when one or more genes are not working properly.

      Mother and baby son having a good moment together outdoors

      X-linked Retinitis Pigmentosa (XLRP) is the most severe form of retinitis pigmentosa, a group of IRDs characterized by progressive retinal degeneration and vision loss.1 Currently, there are no approved treatments for XLRP.2

      • XLRP is estimated to impact one in 40,000 people globally.3,4
      • The condition is most common in males.7 The most frequent mutation causing XLRP is in the RPGR gene accounting for more than 70 percent of cases.5
      • In XLRP, both rods and cones function poorly, leading to degeneration of the retina and legal blindness in adulthood.5

      People with XLRP have progressive vision loss, starting in childhood with night blindness or difficulty seeing in low light conditions.4 Over time, they lose their peripheral vision and by approximately age 40, many are considered legally blind.4

      Millions of people worldwide are still without available treatment options. Johnson & Johnson is committed to investing in gene therapy solutions to help this community.

      1 Tee JJ, Smith AJ, Hardcastle AJ, Michaelides M. RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2016;100(8):1022-1027.
      2 Wang DY, Chan WM, Tam PO, et al. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta. 2005;351(1-2):5-16.
      3 Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32(2):223–235.
      4 Fishman GA. Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol. 1978;96(5):822–826. doi:10.1001/archopht.1978.03910050428005.
      5 Cohen, MN et al. Phase 1 Study of JNJ-81201887 Gene Therapy in Geographic Atrophy (GA) Due to Age-related Macular Degeneration (AMD). Abstract #30071749. Presented at the 2022 American Academy of Ophthalmology Annual Meeting.