IRD News & Industry Updates
IRD Research News
Latest research news on inherited retinal diseases including gene therapy breakthroughs, clinical trial updates, and treatment advances.
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Published IRD news updates
A 2026 case report describes peripheral inner retinal dimples in a 30-year-old man with molecularly confirmed X-linked retinoschisis. Detected with ultrawide-field multimodal imaging, the finding expands attention beyond the central retina and creates new questions for future XLRS research.
A 2026 case report describes peripheral inner retinal dimples in a 30-year-old man with molecularly confirmed X-linked retinoschisis. Detected with ultrawide-field multimodal imaging, the finding expands attention beyond the central retina and creates new questions for future XLRS research.
A two-patient study explored subthreshold micropulse laser in brothers with molecularly confirmed X-linked retinoschisis. The treatment was feasible and showed variable changes in retinal thickness alongside visual acuity improvements over eight months, supporting the need for larger controlled studies.
A two-patient study explored subthreshold micropulse laser in brothers with molecularly confirmed X-linked retinoschisis. The treatment was feasible and showed variable changes in retinal thickness alongside visual acuity improvements over eight months, supporting the need for larger controlled studies.
A national study of 197 people with genetically confirmed type 2 Stickler syndrome found that the Cambridge prophylactic cryotherapy protocol was associated with a substantially lower risk of retinal detachment. No serious long-term adverse effects were reported, strengthening the evidence for prevention-focused retinal care in this high-risk condition.
A national study of 197 people with genetically confirmed type 2 Stickler syndrome found that the Cambridge prophylactic cryotherapy protocol was associated with a substantially lower risk of retinal detachment. No serious long-term adverse effects were reported, strengthening the evidence for prevention-focused retinal care in this high-risk condition.
A newly described EFEMP1 variant causes late-onset, peripheral retinal degeneration with night blindness and a choroideremia-like appearance. The study shows that rod dysfunction and delayed dark adaptation can be detected even before visible retinal atrophy develops.
A newly described EFEMP1 variant causes late-onset, peripheral retinal degeneration with night blindness and a choroideremia-like appearance. The study shows that rod dysfunction and delayed dark adaptation can be detected even before visible retinal atrophy develops.
Nature reports that AAV-mediated PRPF31 delivery restored splicing-related measures and several cellular features in patient-derived RPE cells and retinal organoids modeling RP11. The findings are preclinical and do not establish safety, vision benefit, or effectiveness in people.
Nature reports that AAV-mediated PRPF31 delivery restored splicing-related measures and several cellular features in patient-derived RPE cells and retinal organoids modeling RP11. The findings are preclinical and do not establish safety, vision benefit, or effectiveness in people.
A 2026 study found that AI models could distinguish choroideremia, USH2A-associated rod-cone dystrophy, and healthy eyes from macular OCT volumes with very high accuracy. The findings support further research into AI as a complementary diagnostic tool for inherited retinal diseases.
A 2026 study found that AI models could distinguish choroideremia, USH2A-associated rod-cone dystrophy, and healthy eyes from macular OCT volumes with very high accuracy. The findings support further research into AI as a complementary diagnostic tool for inherited retinal diseases.
A four-year multicenter natural history study found that preserved fundus autofluorescence area declined by about 10% per year in choroideremia and closely tracked visual-field function. The findings identify practical measures that may strengthen future clinical trials, even when standard visual acuity remains stable.
A four-year multicenter natural history study found that preserved fundus autofluorescence area declined by about 10% per year in choroideremia and closely tracked visual-field function. The findings identify practical measures that may strengthen future clinical trials, even when standard visual acuity remains stable.
A 2026 study identified two novel PCDH15 variants in a Chinese family with autosomal recessive cone-rod dystrophy. The findings provide preliminary evidence that PCDH15 may broaden the genetic landscape of this inherited retinal disease and highlight the importance of combining genetic testing with detailed retinal assessment.
A 2026 study identified two novel PCDH15 variants in a Chinese family with autosomal recessive cone-rod dystrophy. The findings provide preliminary evidence that PCDH15 may broaden the genetic landscape of this inherited retinal disease and highlight the importance of combining genetic testing with detailed retinal assessment.
A 2026 case report found a distinctive tapetal-like retinal reflex in two males with RPGR-related retinal disease, including cone-associated disease and sector retinitis pigmentosa. The finding may help clinicians recognize RPGR-related cone-rod phenotypes and study markers of preserved retinal structure.
A 2026 case report found a distinctive tapetal-like retinal reflex in two males with RPGR-related retinal disease, including cone-associated disease and sector retinitis pigmentosa. The finding may help clinicians recognize RPGR-related cone-rod phenotypes and study markers of preserved retinal structure.
A 22-month case report of the first mainland Chinese child treated with Luxturna for biallelic *RPE65*-associated LCA2 found sustained improvement in dark-adapted, rod-driven vision. Visual acuity did not improve, and retinal atrophic lesions emerged during follow-up, highlighting the need for broader long-term studies.
A 22-month case report of the first mainland Chinese child treated with Luxturna for biallelic *RPE65*-associated LCA2 found sustained improvement in dark-adapted, rod-driven vision. Visual acuity did not improve, and retinal atrophic lesions emerged during follow-up, highlighting the need for broader long-term studies.
A 2026 review highlights clinical progress for CRISPR-Cas9, including subretinal gene editing for CEP290-associated LCA10. Some treated participants showed meaningful improvements in selected visual-function measures, while safety, delivery, and long-term effectiveness remain major areas of research.
A 2026 review highlights clinical progress for CRISPR-Cas9, including subretinal gene editing for CEP290-associated LCA10. Some treated participants showed meaningful improvements in selected visual-function measures, while safety, delivery, and long-term effectiveness remain major areas of research.
A new patient-derived RPE study found that cells with different ciliopathy-associated genes, including MYO7A, share abnormalities in cell organization, TGF-β signaling, and mitochondrial health. The findings highlight pioglitazone and the TGFBR1 inhibitor galunisertib as early potential candidates for mutation-agnostic treatment research.
A new patient-derived RPE study found that cells with different ciliopathy-associated genes, including MYO7A, share abnormalities in cell organization, TGF-β signaling, and mitochondrial health. The findings highlight pioglitazone and the TGFBR1 inhibitor galunisertib as early potential candidates for mutation-agnostic treatment research.
A large Korean study of 182 people with biallelic USH2A variants found a genetic pattern distinct from commonly reported European populations. The frequent c.2802T>G variant and links between truncating variants, Usher syndrome, and more severe retinal findings may help guide future research and exon 13-targeted treatment development.
A large Korean study of 182 people with biallelic USH2A variants found a genetic pattern distinct from commonly reported European populations. The frequent c.2802T>G variant and links between truncating variants, Usher syndrome, and more severe retinal findings may help guide future research and exon 13-targeted treatment development.
A 2026 study found that early genetic panel testing delivered a clinically actionable diagnosis in 44.6% of people with suspected genetic eye diseases. Usher syndrome was the most common diagnosis, led by USH2A-associated type 2 Usher syndrome, supporting earlier molecular testing as a way to guide evaluation, counseling, and future gene-specific care.
A 2026 study found that early genetic panel testing delivered a clinically actionable diagnosis in 44.6% of people with suspected genetic eye diseases. Usher syndrome was the most common diagnosis, led by USH2A-associated type 2 Usher syndrome, supporting earlier molecular testing as a way to guide evaluation, counseling, and future gene-specific care.
A 2026 exploratory study used GPT-4 to help create an R script that detects and quantifies cone-like features in adaptive optics retinal images from people with Stargardt disease. The tool is not yet validated, but it could support future efforts to develop cone counts as biomarkers for clinical trials.
A 2026 exploratory study used GPT-4 to help create an R script that detects and quantifies cone-like features in adaptive optics retinal images from people with Stargardt disease. The tool is not yet validated, but it could support future efforts to develop cone counts as biomarkers for clinical trials.
A 2026 review explains how biallelic ABCA4 variants disrupt retinoid transport in Stargardt disease, leading to lipofuscin buildup, oxidative stress, complement activation, and retinal degeneration. It also highlights emerging pharmacological strategies and the importance of early diagnosis and specialist referral as disease-modifying therapies are pursued.
A 2026 review explains how biallelic ABCA4 variants disrupt retinoid transport in Stargardt disease, leading to lipofuscin buildup, oxidative stress, complement activation, and retinal degeneration. It also highlights emerging pharmacological strategies and the importance of early diagnosis and specialist referral as disease-modifying therapies are pursued.
A 2026 review explores how stem cells, extracellular vesicles, and retinal organoids could support retinal repair in retinitis pigmentosa and other degenerative eye diseases. The field is promising, but challenges such as cell survival, immune rejection, integration, and long-term safety remain before these approaches can become routine care.
A 2026 review explores how stem cells, extracellular vesicles, and retinal organoids could support retinal repair in retinitis pigmentosa and other degenerative eye diseases. The field is promising, but challenges such as cell survival, immune rejection, integration, and long-term safety remain before these approaches can become routine care.
A Swedish cross-sectional study of 31 people with chronic LHON found that onset before age 15 was associated with better average visual acuity, visual-field scores, and macular ganglion cell complex thickness than later onset. The study also found no significant measured outcome differences by idebenone treatment history, but its non-randomized design cannot determine treatment benefit.
A Swedish cross-sectional study of 31 people with chronic LHON found that onset before age 15 was associated with better average visual acuity, visual-field scores, and macular ganglion cell complex thickness than later onset. The study also found no significant measured outcome differences by idebenone treatment history, but its non-randomized design cannot determine treatment benefit.
Nature reports that CLN8, a protein associated with some forms of Batten disease, can drive a newly described pathway for producing the lysosomal lipid BMP. In cells and mice lacking CLN8, researchers found impaired BMP synthesis from glycerophosphoglycerol and phospholipid buildup in lysosomes; the study does not report a treatment or human clinical results.
Nature reports that CLN8, a protein associated with some forms of Batten disease, can drive a newly described pathway for producing the lysosomal lipid BMP. In cells and mice lacking CLN8, researchers found impaired BMP synthesis from glycerophosphoglycerol and phospholipid buildup in lysosomes; the study does not report a treatment or human clinical results.
A Nature study using cultured retinal tissue from rd1 mice reported that targeting PPARα, PPARγ or PGC-1α was associated with reduced photoreceptor death and lower PARP activity. The findings are preclinical and model-specific; the supplied report includes no human testing, vision outcomes or clinical safety data.
A Nature study using cultured retinal tissue from rd1 mice reported that targeting PPARα, PPARγ or PGC-1α was associated with reduced photoreceptor death and lower PARP activity. The findings are preclinical and model-specific; the supplied report includes no human testing, vision outcomes or clinical safety data.
A Nature case series reports eight people from seven unrelated families with biallelic RDH11 variants and a pattern of retinitis pigmentosa, congenital or early-childhood cataracts, and frequent neurodevelopmental differences. The retrospective study expands published evidence for RDH11-related syndromic retinal disease but does not evaluate treatments or define outcomes for all affected people.
A Nature case series reports eight people from seven unrelated families with biallelic RDH11 variants and a pattern of retinitis pigmentosa, congenital or early-childhood cataracts, and frequent neurodevelopmental differences. The retrospective study expands published evidence for RDH11-related syndromic retinal disease but does not evaluate treatments or define outcomes for all affected people.
A Nature study reports that CLN8 performs a stereospecific enzyme step needed to produce the lysosomal lipid BMP, clarifying how CLN8 may fit into a pathway involving the related protein CLN5. In cells and animal models, an S,S-LPG precursor restored BMP production and improved reported neurological features in mutant zebrafish, but these are preclinical findings and do not establish a treatment for people.
A Nature study reports that CLN8 performs a stereospecific enzyme step needed to produce the lysosomal lipid BMP, clarifying how CLN8 may fit into a pathway involving the related protein CLN5. In cells and animal models, an S,S-LPG precursor restored BMP production and improved reported neurological features in mutant zebrafish, but these are preclinical findings and do not establish a treatment for people.
SciTechDaily reported on a 3D map revealing how DNA is organized within human retina cells. The available source information does not identify specific IRDs, treatments, clinical trials, or next steps, but the update highlights continuing research focused on the retina.
SciTechDaily reported on a 3D map revealing how DNA is organized within human retina cells. The available source information does not identify specific IRDs, treatments, clinical trials, or next steps, but the update highlights continuing research focused on the retina.
AARP published an August 11, 2025 article focused on what caregivers need to know when rare disease disrupts life in midlife. While the available source provides no further details, the topic is relevant to IRD families and the support networks around them.
AARP published an August 11, 2025 article focused on what caregivers need to know when rare disease disrupts life in midlife. While the available source provides no further details, the topic is relevant to IRD families and the support networks around them.