ArticleClinical ophthalmology (Auckland, N.Z.)2021
Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies.
Article in Clinical ophthalmology (Auckland, N.Z.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.Nature medicine · 2022Trial
- Expanding the clinical and genetic spectrum ofExperimental biology and medicine (Maywood, N.J.) · 2026Article
- Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.Scientific reports · 2025Article
- The incidence of visual impairment due to retinitis pigmentosa has declined in Finland over the last 40 years.Acta ophthalmologica · 2025Article
- Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.Investigative ophthalmology & visual science · 2024Article
- Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.Stem cell research & therapy · 2024Article
- Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.Orphanet journal of rare diseases · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia.Gene therapy · 2023Article
- Characterising the diagnosis of genetic maculopathies in a real-world private tertiary retinal practice in Australia: protocol for a retrospective clinical audit.Annals of medicine · 2023Article
- Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.Molecular vision · 2023Article
- Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.Clinical & experimental ophthalmology · 2022Article
- Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
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Authors and funding
5 authors.
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Abstract
purposeTo analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain.
methodsAll patients with an IRD seen in the two major referral units of Castilla y Leon during a 20-year period were included. The ages at symptom onset, diagnosis, and the last visit; sex; family history; history of consanguinity; type of inheritance; status of the fundus and electroretinogram findings; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. Gene mutations were gathered when available.
resultsFour hundred eighty-eight patients with IRDs were studied: 216 (44.26%) with RP of which 34 (15.74%) had syndromic diseases, and 272 had other conditions being 161 (59,19%) macular dystrophies. The mean delay in diagnosis was 6-16.2 years respectively. For the RP group the mean age at the last visit was 47.96±17,26; mean age of cataract surgery was 48.30 ± 12.01 years; and the foveal area was preserved in 74 (35.07%) patients, atrophic in 101 (47.87%), and edematous in 36 (17.06%). A genetic study had been performed in 58 (26.85%) of patients with RP and 71 (26,1%) of the rest, being indeterminate in 17 (29.31%) out of RP group and 20 (28.16%) out of the others.
conclusionClinical characteristics are comparable to other published series. There is a significant delay in diagnosis. The number of patients with IRDs and available genetic diagnosis, thus being possible candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved.
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