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Research article
Descriptive Study of a 488 Patients Cohort with Inherited Retinal Diseases and a Low Genetic Diagnosis Rate.
Rosa M. Coco-Martin
Instituto de Oftalmobiología Aplicada: Instituto de Oftalmobiologia Aplicada
Corresponding Author
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This work is licensed under a CC BY 4.0 License. Read Full License
Backgorund: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnoses in the Castilla and Leon region of Spain.
Methods: All 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; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. The genetic mutations were gathered.
Results: Four hundred eighty-eight patients with IRDs were studied, 216 with RP (of which 15.74% had syndromic disease) and 272 with other conditions (59.19% of which were macular dystrophies). A genetic study had been performed in 27.31% of patients (29.31% of which were negative) among the patients with RP and in 26.1% of the rest of the IRDs (28.16% of which were negative). In the group without a genetic diagnosis, 70.6% of subjects had good remaining vision. The mean delay in diagnosis was 6-16.2 years.
Conclusions: The percentage of patients with IRDs that are candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved. Most patients with RP who did not undergo a genetic study have good remaining vision, so they would be candidates for receiving treatments aimed at maintaining vision. There is a significant delay in diagnosis.
Keywords
inherited retinal dystrophies, retinitis pigmentosa, genetic diagnosis, visual acuity, visual field
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This is a preprint. It has not completed peer review.
Research article
Descriptive Study of a 488 Patients Cohort with Inherited Retinal Diseases and a Low Genetic Diagnosis Rate.
Rosa M. Coco-Martin
Instituto de Oftalmobiología Aplicada: Instituto de Oftalmobiologia Aplicada
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 22 Sep, 2020
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Ophthalmology
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Backgorund: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnoses in the Castilla and Leon region of Spain.
Methods: All 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; lens and macular status, visual acuity; and visual field data were recorded. Patients were divided into those with retinitis pigmentosa (RP) and all others. The genetic mutations were gathered.
Results: Four hundred eighty-eight patients with IRDs were studied, 216 with RP (of which 15.74% had syndromic disease) and 272 with other conditions (59.19% of which were macular dystrophies). A genetic study had been performed in 27.31% of patients (29.31% of which were negative) among the patients with RP and in 26.1% of the rest of the IRDs (28.16% of which were negative). In the group without a genetic diagnosis, 70.6% of subjects had good remaining vision. The mean delay in diagnosis was 6-16.2 years.
Conclusions: The percentage of patients with IRDs that are candidates for undergoing personalized treatments including gene therapy in our region is low and must be improved. Most patients with RP who did not undergo a genetic study have good remaining vision, so they would be candidates for receiving treatments aimed at maintaining vision. There is a significant delay in diagnosis.
Figure 1
Figure 2