IRD News & Industry Updates
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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 single-centre Portuguese IRD study described in Ophthalmology Times reported that systematic reanalysis and targeted follow-up testing increased its molecular diagnostic rate from 59.4% to 70.1%. The report highlights technical and interpretive reasons an initial genetic test may be negative or uncertain, but the conference-based findings have limited published methodological detail.
A single-centre Portuguese IRD study described in Ophthalmology Times reported that systematic reanalysis and targeted follow-up testing increased its molecular diagnostic rate from 59.4% to 70.1%. The report highlights technical and interpretive reasons an initial genetic test may be negative or uncertain, but the conference-based findings have limited published methodological detail.
A 2026 case report provides the first evidence that harmful variants in both copies of TTC21B can directly cause Joubert syndrome. The finding expands the known TTC21B disease spectrum to include characteristic brain changes, retinal dystrophy, and mild kidney dysplasia.
A 2026 case report provides the first evidence that harmful variants in both copies of TTC21B can directly cause Joubert syndrome. The finding expands the known TTC21B disease spectrum to include characteristic brain changes, retinal dystrophy, and mild kidney dysplasia.
Advanced OCT imaging reveals that outer retinal tubulations in Bietti crystalline dystrophy form complex, connected three-dimensional patterns linked to the remaining outer retina. The findings identify the edges of these regions as a possible key site of retinal reorganization and may help improve future disease monitoring.
Advanced OCT imaging reveals that outer retinal tubulations in Bietti crystalline dystrophy form complex, connected three-dimensional patterns linked to the remaining outer retina. The findings identify the edges of these regions as a possible key site of retinal reorganization and may help improve future disease monitoring.
A 10-person early study of an optogenetic gene therapy paired with light-stimulating goggles found that some participants with profound vision loss from retinitis pigmentosa had improved light sensitivity and selected object-detection performance. The nonrandomized trial had no control group, and the reported gains did not include reading or face recognition.
A 10-person early study of an optogenetic gene therapy paired with light-stimulating goggles found that some participants with profound vision loss from retinitis pigmentosa had improved light sensitivity and selected object-detection performance. The nonrandomized trial had no control group, and the reported gains did not include reading or face recognition.
A 2026 review outlines emerging genetic and disease-agnostic strategies for ABCA4-associated Stargardt disease, including gene supplementation, gene editing, antisense oligonucleotides, and optogenetics. These approaches may eventually support more individualized care across the spectrum from macular disease to generalized rod-cone dystrophy.
A 2026 review outlines emerging genetic and disease-agnostic strategies for ABCA4-associated Stargardt disease, including gene supplementation, gene editing, antisense oligonucleotides, and optogenetics. These approaches may eventually support more individualized care across the spectrum from macular disease to generalized rod-cone dystrophy.
A UK study of 51 people with FEVR found variants across six known genes and identified 11 variants not previously reported in the condition. NDP variants were associated with the most severe and uneven disease between eyes, while most patients had stable or improved vision following monitoring, laser, or surgery.
A UK study of 51 people with FEVR found variants across six known genes and identified 11 variants not previously reported in the condition. NDP variants were associated with the most severe and uneven disease between eyes, while most patients had stable or improved vision following monitoring, laser, or surgery.
A 2026 scoping review found that Bardet-Biedl syndrome affects physical functioning, emotional well-being, social participation, and independence. Although vision loss was a major driver of reduced quality of life, no included study used vision-specific patient-reported measures—highlighting a key priority for future research and care.
A 2026 scoping review found that Bardet-Biedl syndrome affects physical functioning, emotional well-being, social participation, and independence. Although vision loss was a major driver of reduced quality of life, no included study used vision-specific patient-reported measures—highlighting a key priority for future research and care.
A 31-year-old woman with difficult-to-control diabetes was diagnosed with BBS10-related Bardet-Biedl syndrome after genetic testing revealed two pathogenic BBS10 variants. The case highlights the value of recognizing diabetes alongside retinal, kidney, limb, and reproductive features—and points to semaglutide as a promising area for further study.
A 31-year-old woman with difficult-to-control diabetes was diagnosed with BBS10-related Bardet-Biedl syndrome after genetic testing revealed two pathogenic BBS10 variants. The case highlights the value of recognizing diabetes alongside retinal, kidney, limb, and reproductive features—and points to semaglutide as a promising area for further study.
A five-year inherited retinal disease study from Northwest China achieved genetic confirmation in every Bardet-Biedl syndrome case included in its cohort. The findings underscore how sequencing and family testing can strengthen diagnosis and lay the groundwork for future precision-treatment research.
A five-year inherited retinal disease study from Northwest China achieved genetic confirmation in every Bardet-Biedl syndrome case included in its cohort. The findings underscore how sequencing and family testing can strengthen diagnosis and lay the groundwork for future precision-treatment research.
A Brazilian study of 52 people with CERKL-related inherited retinal disease found that 50 had cone-rod dystrophy, supporting CORD as the gene’s predominant clinical phenotype. The research also identified a common CERKL variant and showed that people with two predicted loss-of-function alleles experienced a significant, time-linked decline in visual acuity.
A Brazilian study of 52 people with CERKL-related inherited retinal disease found that 50 had cone-rod dystrophy, supporting CORD as the gene’s predominant clinical phenotype. The research also identified a common CERKL variant and showed that people with two predicted loss-of-function alleles experienced a significant, time-linked decline in visual acuity.
A whole-exome sequencing study of 203 people with inherited retinal dystrophies in Poland identified pathogenic variants in 65% of participants. USH2A was among the most frequent causative genes, highlighting the value of comprehensive genetic testing for Usher syndrome and related retinal conditions.
A whole-exome sequencing study of 203 people with inherited retinal dystrophies in Poland identified pathogenic variants in 65% of participants. USH2A was among the most frequent causative genes, highlighting the value of comprehensive genetic testing for Usher syndrome and related retinal conditions.
A 2026 study explains how the investigational Stargardt disease therapy tinlarebant binds retinol-binding protein 4 (RBP4), displaces retinol, and disrupts RBP4’s partnership with transthyretin. In mice, this mechanism lowered circulating RBP4 by up to 93%, offering important insight into a treatment strategy aimed at modulating retinol transport.
A 2026 study explains how the investigational Stargardt disease therapy tinlarebant binds retinol-binding protein 4 (RBP4), displaces retinol, and disrupts RBP4’s partnership with transthyretin. In mice, this mechanism lowered circulating RBP4 by up to 93%, offering important insight into a treatment strategy aimed at modulating retinol transport.
A 2026 preprint describes AKR-XI-85, a non-retinoid small molecule designed to reduce vitamin A transport to the retina by targeting RBP4. In an Abca4 -/- mouse model, chronic treatment reduced the toxic lipofuscin component A2E by 70%, supporting further development of this potential Stargardt disease therapy.
A 2026 preprint describes AKR-XI-85, a non-retinoid small molecule designed to reduce vitamin A transport to the retina by targeting RBP4. In an Abca4 -/- mouse model, chronic treatment reduced the toxic lipofuscin component A2E by 70%, supporting further development of this potential Stargardt disease therapy.
A 2026 study identifies bi-allelic IDUA variants as a cause of late-onset, retina-predominant retinitis pigmentosa in some people without recognizable mucopolysaccharidosis type I. Residual alpha-L-iduronidase activity appears to help spare systemic tissues while the retina remains vulnerable.
A 2026 study identifies bi-allelic IDUA variants as a cause of late-onset, retina-predominant retinitis pigmentosa in some people without recognizable mucopolysaccharidosis type I. Residual alpha-L-iduronidase activity appears to help spare systemic tissues while the retina remains vulnerable.
STAT reports that a small trial of optogenetics for retinitis pigmentosa was published in *The New England Journal of Medicine*. The accessible publisher text describes early investigation of safety and clinical potential, but does not provide participant numbers, outcomes, procedure details, or safety results.
STAT reports that a small trial of optogenetics for retinitis pigmentosa was published in *The New England Journal of Medicine*. The accessible publisher text describes early investigation of safety and clinical potential, but does not provide participant numbers, outcomes, procedure details, or safety results.
A 2026 *Science Advances* study shows that rod photoreceptors have a unique, dual need for aerobic glycolysis and mitochondrial energy production. In an RP-causing mutation, rods produced more lactate while showing otherwise subtle metabolic changes, offering new insight into photoreceptor vulnerability.
A 2026 *Science Advances* study shows that rod photoreceptors have a unique, dual need for aerobic glycolysis and mitochondrial energy production. In an RP-causing mutation, rods produced more lactate while showing otherwise subtle metabolic changes, offering new insight into photoreceptor vulnerability.
In a 10-person clinical study of advanced retinitis pigmentosa, an optogenetic therapy paired with light-stimulating goggles increased light sensitivity in 7 participants. Six achieved a fourfold or greater improvement, supporting further research into approaches designed to restore aspects of vision after severe photoreceptor loss.
In a 10-person clinical study of advanced retinitis pigmentosa, an optogenetic therapy paired with light-stimulating goggles increased light sensitivity in 7 participants. Six achieved a fourfold or greater improvement, supporting further research into approaches designed to restore aspects of vision after severe photoreceptor loss.
A two-year study of 25 people with genetically confirmed Malattia Leventinese found that detailed retinal-layer measurements and dark-adapted vision testing detect progression more effectively than total retinal thickness alone. The findings provide potential structural and functional endpoints for future clinical trials.
A two-year study of 25 people with genetically confirmed Malattia Leventinese found that detailed retinal-layer measurements and dark-adapted vision testing detect progression more effectively than total retinal thickness alone. The findings provide potential structural and functional endpoints for future clinical trials.
A new CRISPR-based cell study shows that loss of VPS13B disrupts several essential cellular systems, including the Golgi apparatus, ER, mitochondria, and autophagy pathways. The findings offer new clues to how VPS13B deficiency may contribute to Cohen syndrome and identify cellular features that could support future therapy research.
A new CRISPR-based cell study shows that loss of VPS13B disrupts several essential cellular systems, including the Golgi apparatus, ER, mitochondria, and autophagy pathways. The findings offer new clues to how VPS13B deficiency may contribute to Cohen syndrome and identify cellular features that could support future therapy research.
A 2026 case report describes a young man whose night blindness and retinal flecks resembled fundus albipunctatus, but were linked to severe vitamin A deficiency. Improvement after vitamin A supplementation highlights the importance of investigating treatable causes and interpreting genetic findings within the full clinical picture.
A 2026 case report describes a young man whose night blindness and retinal flecks resembled fundus albipunctatus, but were linked to severe vitamin A deficiency. Improvement after vitamin A supplementation highlights the importance of investigating treatable causes and interpreting genetic findings within the full clinical picture.
A 2026 case report followed two children with Bardet-Biedl syndrome who received setmelanotide after kidney transplantation. One had sustained reductions in hunger, weight, BMI, and HbA1c, while the other had an early but unsustained BMI improvement—highlighting the need for personalized treatment and larger studies.
A 2026 case report followed two children with Bardet-Biedl syndrome who received setmelanotide after kidney transplantation. One had sustained reductions in hunger, weight, BMI, and HbA1c, while the other had an early but unsustained BMI improvement—highlighting the need for personalized treatment and larger studies.
A Nature *Eye* Image Article reports a case described as autosomal recessive Best disease that resembled chronic central serous chorioretinopathy. The public preview confirms the use of multimodal retinal imaging, but does not provide enough clinical, genetic, imaging or outcome detail to draw broader conclusions.
A Nature *Eye* Image Article reports a case described as autosomal recessive Best disease that resembled chronic central serous chorioretinopathy. The public preview confirms the use of multimodal retinal imaging, but does not provide enough clinical, genetic, imaging or outcome detail to draw broader conclusions.
Whole-exome sequencing identified causative or potentially causative variants in all 26 Iranian patients clinically suspected of having Bardet-Biedl syndrome. The study highlights the genetic diversity of BBS, the importance of recessive inheritance and consanguinity, and the value of broad early genetic testing.
Whole-exome sequencing identified causative or potentially causative variants in all 26 Iranian patients clinically suspected of having Bardet-Biedl syndrome. The study highlights the genetic diversity of BBS, the importance of recessive inheritance and consanguinity, and the value of broad early genetic testing.
A newly reported case describes primary hyperaldosteronism caused by an adrenal adenoma in a man with Bardet-Biedl syndrome and severe, treatment-resistant hypertension. The findings highlight why low potassium and difficult-to-control blood pressure in BBS may warrant evaluation for treatable endocrine causes.
A newly reported case describes primary hyperaldosteronism caused by an adrenal adenoma in a man with Bardet-Biedl syndrome and severe, treatment-resistant hypertension. The findings highlight why low potassium and difficult-to-control blood pressure in BBS may warrant evaluation for treatable endocrine causes.