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3.
Gene Ther ; 31(5-6): 314-323, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38565634

RESUMEN

Amidst rapid advancements in ocular gene therapy, understanding patient perspectives is crucial for shaping future treatment choices and research directions. This international cross-sectional survey evaluated knowledge, attitudes, and perceptions of ocular genetic therapies among potential recipients with inherited retinal diseases (IRDs). Survey instruments included the Attitudes to Gene Therapy-Eye (AGT-Eye), EQ-5D-5L, National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25), and Patient Attitudes to Clinical Trials (PACT-22) instruments. This study included 496 participant responses (89% adults with IRDs; 11% parents/guardians/carers) from 35 countries, with most from the United States of America (USA; 69%) and the United Kingdom (11%). Most participants (90%) indicated they would likely accept gene therapy if it was available, despite only 45% agreeing that they had good knowledge of gene therapy. The main sources of information were research registries (60% of participants) and the internet (61%). Compared to data from our recently published Australian national survey of people with IRDs (n = 694), USA respondents had higher knowledge of gene therapy outcomes, and Australian respondents indicated a higher perceived value of gene therapy treatments. Addressing knowledge gaps regarding outcomes and financial implications will be central to ensuring informed consent, promoting shared decision-making, and the eventual clinical adoption of genetic therapies.


Asunto(s)
Terapia Genética , Humanos , Terapia Genética/métodos , Adulto , Masculino , Estudios Transversales , Encuestas y Cuestionarios , Femenino , Persona de Mediana Edad , Conocimientos, Actitudes y Práctica en Salud , Enfermedades de la Retina/terapia , Enfermedades de la Retina/genética , Adulto Joven , Adolescente , Anciano , Estados Unidos
5.
Sci Rep ; 14(1): 5403, 2024 03 05.
Artículo en Inglés | MEDLINE | ID: mdl-38443430

RESUMEN

This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed to adults with IRDs and parents/guardians of dependents with IRDs who had had genetic testing. Data included details of genetic testing, pre- and post- test perceptions, Decision Regret Scale, perceived value of results, and knowledge of gene therapy. Of 135 responses (85% from adults with IRDs), genetic testing was primarily conducted at no charge through public hospitals (49%) or in a research setting (30%). Key motivations for genetic testing were to confirm IRD diagnosis and to contribute towards research. Those who had received a genetic diagnosis (odds ratio: 6.71; p < 0.001) and those self-reported to have good knowledge of gene therapy (odds ratio: 2.69; p = 0.018) were more likely to have gained confidence in managing their clinical care. For over 80% of respondents, knowing the causative gene empowered them to learn more about their IRD and explore opportunities regarding clinical trials. Key genetic counselling information needs include resources for family communications, structured information provision, and ongoing genetic support, particularly in the context of emerging ocular therapies, to enhance consistency in information uptake.


Asunto(s)
Retina , Enfermedades de la Retina , Adulto , Humanos , Estudios Transversales , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/genética , Enfermedades de la Retina/terapia , Pruebas Genéticas , Aprendizaje , Evaluación del Resultado de la Atención al Paciente
6.
Acta Ophthalmol ; 102(5): e736-e745, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38226448

RESUMEN

PURPOSE: Economic evaluations of interventions for ocular disease require utility scores that accurately represent quality of life in the target population. This study aimed to describe the distribution of EQ-5D-5L utility values among Australian adults with symptomatic inherited retinal diseases (IRDs) and to assess the relationship between these scores and vision-related quality of life. METHODS: A survey was administered predominantly online in 2021. Participants completed the EQ-5D-5L general health utility instrument, the EQ vertical visual analogue scale (EQ-VAS) and the National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25). Self-reported IRD diagnoses were classified as being associated with central or widespread retinal involvement. RESULTS: Responses from 647 participants aged 18-93 years were included, 50.1% were men and 77.6% had an IRD associated with widespread retinal involvement. The majority reported no problems with self-care and no pain/discomfort but did report anxiety/depression and problems with work, study, housework, or family/leisure activities. Most people with widespread involvement reported problems with mobility. Median EQ-5D-5L utility was 0.88 and 0.91 among people with widespread and central involvement, respectively (age and sex-adjusted p = 0.029); and median EQ-VAS was 75 and 80, respectively (adjusted p = 0.003). A moderate curvilinear correlation was observed between EQ-5D-5L and NEI-VFQ-25 composite score (Spearman's ρ 0.69), but not all people with poor vision-related quality of life had low EQ-5D-5L utility values. CONCLUSIONS: EQ-5D-5L health utility values are correlated with vision-related quality of life among adults with IRDs. However, the EQ-5D-5L may not be sensitive to the full impact of vision impairment on quality of life.


Asunto(s)
Calidad de Vida , Enfermedades de la Retina , Humanos , Adulto , Masculino , Persona de Mediana Edad , Femenino , Anciano , Estudios Transversales , Adolescente , Adulto Joven , Australia/epidemiología , Anciano de 80 o más Años , Enfermedades de la Retina/fisiopatología , Enfermedades de la Retina/psicología , Enfermedades de la Retina/diagnóstico , Encuestas y Cuestionarios , Estado de Salud , Agudeza Visual/fisiología , Perfil de Impacto de Enfermedad , Años de Vida Ajustados por Calidad de Vida
8.
Pediatr Nephrol ; 39(2): 357-369, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37468646

RESUMEN

Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common birth defects worldwide and a major cause of kidney failure in children. Extra-renal manifestations are also common. This study reviewed diseases associated with the Genomics England CAKUT-associated gene panel for ocular anomalies. In addition, each gene was examined for expression in the human retina and an ocular phenotype in mouse models using the Human Protein Atlas and Mouse Genome Informatics databases, respectively. Thirty-four (54%) of the 63 CAKUT-associated genes (55 'green' and 8 'amber') had a reported ocular phenotype. Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract. Seven of the CAKUT-associated genes studied (11%) had no reported ocular features but were expressed in the human retina or had an ocular phenotype in a mouse model, which suggested further possibly-unrecognised abnormalities. About one third of CAKUT-associated genes (18, 29%) had no ocular associations and were not expressed in the retina, and the corresponding mouse models had no ocular phenotype. Ocular abnormalities in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision.


Asunto(s)
Sistema Urinario , Anomalías Urogenitales , Reflujo Vesicoureteral , Niño , Ratones , Animales , Humanos , Riñón/metabolismo , Sistema Urinario/anomalías , Reflujo Vesicoureteral/genética , Reflujo Vesicoureteral/diagnóstico , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico
9.
Am J Ophthalmol ; 257: 247-253, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37757996

RESUMEN

PURPOSE: Retinal drusen have been described in people with IgA nephropathy. We examined the frequency of drusen in IgA nephropathy and compared their location and composition with those for drusen in age-related macular degeneration. DESIGN: Immunohistological case series of eyes of patients with IgA nephropathy, and a comparison eye with age-related macular degeneration. METHODS: Donor eyes from 4 individuals (3 male, 1 female, aged 40-80 years) with biopsy-proven IgA nephropathy and kidney failure were examined for the presence of drusen, and location and composition using antibodies for vitronectin, IgA, IgM, IgG, C3, and C1q. Results were compared with those for drusen in macular degeneration without IgA nephropathy. RESULTS: All 4 donors had sparse, subretinal pigment epithelium drusen of 55-65 mm diameter that stained for vitronectin but not for IgA or complement. All donors had retinal capillaries and choriocapillaris staining for IgA. The youngest donor (female, 40) had rare deposits in the outer nuclear layer that stained for IgA, but not for vitronectin. The oldest donor (male, 82) had large cystlike spaces in the inner nuclear and plexiform layers, and smaller cysts in the outer nuclear layer, with no staining for IgA or complement. CONCLUSIONS: Retinal drusen are uncommon in IgA nephropathy, even with kidney failure. Drusen in IgA nephropathy resemble drusen found in age-related macular degeneration. IgA-staining deposits in the outer nuclear layer were likely due to systemic deposition of IgA and complement activation. The nature of cystic spaces is unknown. Further analysis of the retinas of people with glomerulonephritis is recommended.


Asunto(s)
Glomerulonefritis por IGA , Degeneración Macular , Insuficiencia Renal , Drusas Retinianas , Humanos , Masculino , Femenino , Drusas Retinianas/diagnóstico , Drusas Retinianas/patología , Glomerulonefritis por IGA/complicaciones , Glomerulonefritis por IGA/diagnóstico , Vitronectina , Degeneración Macular/patología , Inmunoglobulina A
10.
Clin Genet ; 105(1): 34-43, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37553298

RESUMEN

With advances in gene-based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross-sectional survey evaluated knowledge, attitudes, and concerns regarding genetic testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age-related macular degeneration, and knowledge of ocular genetics and gene therapy. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.


Asunto(s)
Degeneración Macular , Optometristas , Optometría , Humanos , Estudios Transversales , Nueva Zelanda , Australia , Pruebas Genéticas , Terapia Genética
11.
Ann Med ; 55(2): 2250538, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37634060

RESUMEN

PURPOSE: Accurate diagnosis of macular atrophy is paramount to enable appropriate treatment when novel treatments for geographic atrophy and macular dystrophies become available. Genetic testing is useful in distinguishing between the two conditions but is not feasible for the majority of patients in real-world clinical practice. Therefore, we aimed to investigate the potential misdiagnosis of inherited macular dystrophy as age-related macular degeneration (AMD) in real-world ophthalmic practice to assist in the development of guidelines to improve diagnostic accuracy while minimizing genetic testing for targeted patients. METHODS: Retrospective review of the medical records of patients diagnosed with AMD, which included imaging, between 1995 and 2023 from a large multidisciplinary private ophthalmic practice in Australia. We will use a stepwise method to screen for probable cases of macular dystrophy, followed by a consensus review by an expert panel. The outcomes are (1) to determine the potential misdiagnosis rate of macular dystrophy as atrophic AMD by retinal specialists and general ophthalmologists; (2) to identify clinical imaging modalities that are most useful for differentiating macular dystrophy from atrophic AMD; and (3) to establish preliminary guidance for clinicians to improve the diagnosis of macular atrophy from AMD in practice, and thereby target cost-efficient genetic testing. DISCUSSION: Improving the diagnostic accuracy of both AMD and macular dystrophy, while ensuring cost-efficient genetic testing, will improve the targeted treatment of macular diseases when emerging treatments become available.


Asunto(s)
Degeneración Macular , Humanos , Estudios Retrospectivos , Degeneración Macular/diagnóstico , Degeneración Macular/genética , Australia , Auditoría Clínica , Atrofia
12.
Ophthalmic Genet ; 44(1): 19-27, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36579937

RESUMEN

INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We describe here further clinical associations in the eye and kidney. METHODS: Fifteen affected members from two unrelated families with p.(Ala30Glu) or p.(Pro31Leu) in KCTD1 were examined for ocular and renal abnormalities. The relevant proteins were studied in the eye and kidney, and the mutation consequences determined from mouse knockout models. RESULTS: Five males and 10 females with a median age of 40 years (range 1-70) with pathogenic variants p.(Ala30Glu) (n = 12) or p.(Pro31Leu) (n = 3) in KCTD1 were studied. Of the 6 who underwent detailed ophthalmic examination, 5 (83%) had low myopic astigmatism, the mean spherical equivalent of 10 eyes was 2.38D, and one (17%) had hypermetropic astigmatism. One female had a divergent strabismus.Five individuals had renal cysts (5/15, 33%), with renal biopsy in one demonstrating a thinned glomerular basement membrane identical to that seen in Thin basement membrane nephropathy (AD Alport syndrome).In the eye, KCTD1 and its downstream targets, TFAP2, and the collagen IV α3 and α4 chains localised to the cornea and near the retinal amacrine cells. In the kidney, all these proteins except TFAP2 were expressed in the podocytes and distal tubules. TFAP2B and COL4A4 knockout mice also had kidney cysts, and COL4A3 and COL4A4 knockout mice had myopia. CONCLUSION: Individuals with a pathogenic KCTD1 variant may have low myopic astigmatism and represent a further rare genetic cause for a thinned glomerular basement membrane.


Asunto(s)
Astigmatismo , Miopía , Masculino , Ratones , Animales , Femenino , Humanos , Pezones/metabolismo , Astigmatismo/patología , Cuero Cabelludo/metabolismo , Colágeno Tipo IV/genética , Mutación , Ratones Noqueados , Síndrome , Membrana Basal/metabolismo , Membrana Basal/patología , Miopía/genética , Miopía/patología , Proteínas Co-Represoras/genética , Proteínas Co-Represoras/metabolismo
13.
Intern Med J ; 53(3): 311-317, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-35969110

RESUMEN

Hydroxychloroquine (HCQ) and its close relative chloroquine (CQ) were initially used as antimalarial agents but are now widely prescribed in rheumatology, dermatology and immunology for the management of autoimmune diseases. HCQ is considered to have a better long-term safety profile than CQ and is therefore more commonly used. HCQ has a key role in the treatment of connective tissue diseases including systemic lupus erythematosus (SLE), where it provides beneficial immunomodulation without clinically significant immunosuppression. HCQ can also assist in managing inflammatory arthritis, including rheumatoid arthritis (RA). Debate around toxicity of HCQ in COVID-19 has challenged those who regularly prescribe HCQ to discuss its potential toxicities. Accordingly, we have reviewed the adverse effect profile of HCQ to provide guidance about this therapeutic agent in clinical practice.


Asunto(s)
Antirreumáticos , COVID-19 , Lupus Eritematoso Sistémico , Humanos , Hidroxicloroquina/efectos adversos , Antirreumáticos/efectos adversos , Amigos , Tratamiento Farmacológico de COVID-19 , Cloroquina/efectos adversos , Lupus Eritematoso Sistémico/tratamiento farmacológico
14.
Gene Ther ; 30(3-4): 336-346, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36183012

RESUMEN

Many gene therapies are in development for treating people with inherited retinal diseases (IRD). We hypothesized that potential recipients of gene therapy would have knowledge gaps regarding treatment. We aimed to assess knowledge, attitudes, and perceptions of genetic therapies among potential recipients with IRD, using a novel instrument we designed (Attitudes to Gene Therapy-Eye (AGT-Eye)) and their associations with demographic data, self-reported visual status, and tools assessing quality of life and attitudes toward clinical trials using a community-based cross-sectional survey of Australian adults with IRD. AGT-Eye, overall quality of life EQ-5D-5L, National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25) and Patient Attitudes to Clinical Trials (PACT-22) instruments were administered. Six hundred and eighty-one people completed the study, 51.7% women of mean age 53.5 years (SD ± 15.8). Most participants (91.6%) indicated they would likely accept gene therapy if it was available to them or family members. However, only 28.3% agreed that they had good knowledge of gene therapy. Most obtained information about gene therapy from the internet (49.3%). Respondents with post-graduate degrees scored highest compared to other educational levels on methods (p < 0.001) and outcomes (p = 0.003) and were more likely to see economic value of treatment (p = 0.043). Knowledge gaps were present regarding methods and outcomes of gene therapy. This survey has shown high level of interest in the IRD community for gene therapies, and highlights areas for improved clinician and patient education.


Asunto(s)
Calidad de Vida , Enfermedades de la Retina , Adulto , Humanos , Femenino , Persona de Mediana Edad , Masculino , Estudios Transversales , Australia , Enfermedades de la Retina/genética , Enfermedades de la Retina/terapia , Encuestas y Cuestionarios , Retina
15.
Aust J Gen Pract ; 51(11): 855-860, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36309998

RESUMEN

BACKGROUND: Patients frequently present to general practitioners (GPs) with discomfort and a red eye due to corneal ulceration, defined as a defect in the corneal epithelium and underlying stroma. A myriad of conditions may lead to corneal ulcers, and prompt diagnosis and adequate management is needed to prevent visual morbidity. OBJECTIVE: The aim of this article is to assist clinicians/GPs to 1) determine the likely cause of a corneal ulcer and 2) understand the management of corneal ulcers, including the timing of referral to an ophthalmologist. DISCUSSION: Corneal ulcers are typically painful and reduce vision. A good understanding of the clinical presentation of corneal ulcers can aid diagnosis and guide treatment. Urgent referral of trauma and infectious keratitis to an ophthalmologist can prevent endophthalmitis and loss of vision and/or the eye. GPs can play an important part in timely referral, in some cases initiating oral antiviral treatment, and by educating patients on preventive measures, especially contact lens hygiene.


Asunto(s)
Úlcera de la Córnea , Medicina General , Queratitis , Humanos , Úlcera de la Córnea/diagnóstico , Úlcera de la Córnea/etiología , Úlcera de la Córnea/terapia , Úlcera , Queratitis/diagnóstico
16.
Ann Glob Health ; 88(1): 85, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36311898

RESUMEN

In 2013 the Royal Australian and New Zealand College of Ophthalmologists partnered with the Cambodian Ophthalmological Society (COS) to develop a continuing professional development program for COS using a college-college twinning model. The program was reviewed seven years after launch. No evidenceof a functioning CPD program was identified. Reasons may include lack of engagement by ophthalmologists and lack of COS resources. A planning checklistfor international CPD collaborations is discussed.


Asunto(s)
Pueblo Asiatico , Educación Médica Continua , Humanos , Estudios de Seguimiento , Australia , Nueva Zelanda
17.
J Endocr Soc ; 6(7): bvac079, 2022 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-35668994

RESUMEN

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypomagnesemia and hypocalciuria are typical of GS, while juxtaglomerular hyperplasia is characteristic of BS. GS is due to SLC12A3 variants, whereas BS is due to variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND, MAGED2, or CASR. We had the opportunity to follow up one of the first reported cases of a salt-wasting tubulopathy, who based on clinical features was diagnosed with GS. The patient had presented at age 10 years with tetany precipitated by vomiting or diarrhea. She had hypokalemia, a hypochloremic metabolic alkalosis, hyponatremia, mild hypercalcemia, and normomagnesemia, and subsequently developed hypocalciuria and hypomagnesemia. A renal biopsy showed no evidence for juxtaglomerular hyperplasia. She developed chronic kidney failure at age 55 years, and ocular sclerochoroidal calcification, associated with BS and GS, at older than 65 years. Our aim was therefore to establish the genetic diagnosis in this patient using whole-genome sequencing (WGS). Leukocyte DNA was used for WGS analysis, and this revealed a homozygous c.226C > T (p.Arg76Ter) nonsense CLCNKB mutation, thereby establishing a diagnosis of BS type-3. WGS also identified 2 greater than 5-Mb regions of homozygosity that suggested likely mutational heterozygosity in her parents, who originated from a Greek island with fewer than 1500 inhabitants and may therefore have shared a common ancestor. Our results demonstrate the utility of WGS in establishing the correct diagnosis in renal tubular disorders with overlapping phenotypes.

18.
Ophthalmic Genet ; 43(5): 693-698, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35658818

RESUMEN

PURPOSE: To describe and compare the systemic and ocular findings in two siblings with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), one treated with recombinant galsulfase, and one who was untreated. METHOD: One female patient aged 33 years (case 1) who had received galsulfase enzyme replacement therapy for 11 years, and her younger male sibling by 3 years (case 2), who had declined systemic treatment, underwent clinical ophthalmic examination and retinal ocular coherence tomography. The female sibling underwent electrophysiology testing of visual function. RESULTS: Case 1 had best corrected visual acuity right 6/4.8 and left 6/6. Case 2 had best corrected visual acuity of 6/6 in each eye. Case 1 had bilateral mild corneal haze and a clinically unremarkable posterior segment examination. Case 2 had bilateral very mild corneal haze and retinal striae on examination. Ocular coherence tomography showed choroidal folds at the maculae in both patients, more pronounced in Case 2, who also had retinal folds and epiretinal membrane. Electroretinography showed very mild involvement of the rods only in Case 1. CONCLUSION: These two siblings with mucopolysaccharidosis type VI, one treated and one untreated, displayed variable levels of systemic, corneal, and chorioretinal involvement in their disease Further studies of choroidal changes in MPS VI may prove useful as a biomarker of ocular response to treatment outside the blood-retina barrier. Both patients have provided written consent to publish case details.


Asunto(s)
Opacidad de la Córnea , Mucopolisacaridosis VI , Córnea , Terapia de Reemplazo Enzimático/métodos , Femenino , Humanos , Masculino , Mucopolisacaridosis VI/diagnóstico , Mucopolisacaridosis VI/tratamiento farmacológico , Hermanos
20.
Clin Ophthalmol ; 16: 1127-1138, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35444405

RESUMEN

Background: To assess the prevalence of genetic testing for inherited retinal diseases (IRDs) in a tertiary practice setting. Methods: Single-centre retrospective analysis of patients with diagnosed or suspected IRD. Results: Four hundred and sixty-four patient records were analysed. Patients had received care for different IRDs grouped as follows: panretinal pigmentary retinopathies (283, 61%), macular dystrophies (136, 29.3%), stationary diseases (23, 5%), hereditary vitreoretinopathies (14, 3%), and other IRDs (8, 1.7%). The suspected pattern of inheritance of patients' IRD was predominantly autosomal recessive (205, 44.2%). Genetic testing was performed with the corresponding results available for 44 patients (9.5%). Diagnostic yield was 65.9% for the results received. Genetic test results were available mostly for younger patients (13.1% for <45 years vs 6.2% ≥45 years of age, p = 0.01) and those who received greater than 12 months of care (16% for ≥12 months vs 4% for <12 months, p < 0.01). For patients without genetic testing results, reasons include awaiting a geneticist consultation (17.9%), awaiting test results (4.5%), or patient refusal (8.4%). Most clinical records (69.2%) did not document genetic testing status. Conclusion: Genetic testing is increasingly being utilised in the work-up for patients with IRD worldwide. This large Australian private practice IRD cohort shows a low uptake of testing (around 10%), reflecting historical management patterns and accessibility of genetic counselling and testing. The results show that younger patients and those with a longer duration of care were more likely to have received genetic testing. As the importance of IRD genetic testing continues to increase, we expect to see a change in patient management within the Australian private ophthalmology system and testing rates to increase. Further research is required to identify and address clinician and patient barriers to improving genetic testing rates for IRD.

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