The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study

Sabbaghi, Hamideh; Daftarian, Narsis; Suri, Fatemeh; Mirrahimi, Mehraban; Madani, Sina; Sheikhtaheri, Abbas; Khorrami, Farid; Saviz, Proshat; Nejad, Mohammad Zarei; Tivay, Ali; Shahriari, Hossein Ali; Maleki, Alireza; Ahmadi, Seyed Sajad; Sargazi, Monireh; Cremers, Frans P.M.; Najafi, Maryam; Vona, Barbara; Haaf, Thomas; Bahena-Carbajal, Paulina; Moghadasi, Afrooz; Naraghi, Houra; Yaseri, Mehdi; Kheiri, Bahareh; Kalantarion, Masoumeh; Sabbaghi, Elham; Salami, Mahtab; Pazooki, Laleh; Zendedel, Kazem; Mojarrab, Shahnaz; Ahmadieh, Hamid

doi:10.34172/aim.2020.41

Cited by 9 publications

(25 citation statements)

References 20 publications

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“…Macular dystrophy with flecks was the second most common IRD category, suggesting ABCA4 retinopathy as the most common macular IRD diagnosis. The distribution of IRD phenotypes in our cohort is similar to those reported in Spain, 26 , 27 the US, 14 , 28 the UK, 29 Iran, 30 and Norway. 31 The Australian Inherited Retinal Disease Registry and DNA Bank also reported that retinitis pigmentosa and Stargardt disease are the most common two diagnoses among over 9000 Australian patients.…”

Section: Discussionsupporting

confidence: 87%

“…However, our results are less than those reported in Brazil (>10%), 35 Spain (11%), 22 and Iran (76%). 30 A study by Khan et al (2017) found that diagnostic yield increased from 45% to 60% when consanguinity was considered to select the most appropriate test. 36 This result supports the importance of capturing patients’ ethnic background and pedigree structure to increase detection rates of the disease-causing variant.…”

Section: Discussionmentioning

confidence: 99%

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Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice

Gocuk

Jiao

Britten‐Jones

et al. 2022

OPTH

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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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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice

Gocuk

Jiao

Britten‐Jones

et al. 2022

OPTH

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“…Some countries are actively tackling the issue of integrating genetic services into future planning for their healthcare systems. Portugal and Iran are two of the latest countries to announce the launch of their nationwide registries for IRDs [ 174 , 175 ]. These registries aim to increase accessibility for individuals, while also providing a comprehensive dataset for investigators and clinicians to boost and develop their research.…”

Section: Impacts On Ird Diagnosis Outside Of Ngs Testingmentioning

confidence: 99%

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Dockery

Whelan

Humphries

et al. 2021

IJMS

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Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.

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“…None of the probands reportedly suffered from intellectual disability. Fifty-two Iranian index patients from consanguineous families were seen by ophthalmologists in different centers and were cataloged in the Iranian Inherited Retinal Disease Registry (NCT04131400) (Sabbaghi et al 2020). Seven non-consanguineous Mexican probands were recruited by medical geneticists in the Asociación Para Evitar la Ceguera en México (APEC) and the National Institute of Rehabilitation (INR), Mexico City.…”

Section: Patientsmentioning

confidence: 99%

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

et al. 2021

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Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover, several conditions with phenotypes overlapping Usher syndrome have been described. This makes the molecular diagnosis of hereditary deaf–blindness challenging. Here, we performed exome sequencing and analysis on 7 Mexican and 52 Iranian probands with combined retinal degeneration and hearing impairment (without intellectual disability). Clinical assessment involved ophthalmological examination and hearing loss questionnaire. Usher syndrome, most frequently due to biallelic variants in MYO7A (USH1B in 16 probands), USH2A (17 probands), and ADGRV1 (USH2C in 7 probands), was diagnosed in 44 of 59 (75%) unrelated probands. Almost half of the identified variants were novel. Nine of 59 (15%) probands displayed other genetic entities with dual sensory impairment, including Alström syndrome (3 patients), cone-rod dystrophy and hearing loss 1 (2 probands), and Heimler syndrome (1 patient). Unexpected findings included one proband each with Scheie syndrome, coenzyme Q10 deficiency, and pseudoxanthoma elasticum. In four probands, including three Usher cases, dual sensory impairment was either modified/aggravated or caused by variants in distinct genes associated with retinal degeneration and/or hearing loss. The overall diagnostic yield of whole exome analysis in our deaf–blind cohort was 92%. Two (3%) probands were partially solved and only 3 (5%) remained without any molecular diagnosis. In many cases, the molecular diagnosis is important to guide genetic counseling, to support prognostic outcomes and decisions with currently available and evolving treatment modalities.

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The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study

Cited by 9 publications

References 20 publications

Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice

Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

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