RT info:eu-repo/semantics/article
T1 Descriptive study of a cohort of 488 patients with inherited retinal dystrophies
A1 Coco Martín, Rosa María
A1 Diego Alonso, Miguel
A1 Orduz Montaña, Willian Andrés
A1 Sanabria Ruiz Colmenares, María Rosa
A1 Sánchez Tocino, Hortensia Trinidad
K1 genetic diagnosis; inherited retinal dystrophies; retinitis pigmentosa; visual acuity; visual field.
K1 3201.09 Oftalmología
AB ABSTRACT. PURPOSE: To 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. METHODS: All patients with an IRD seen in the two major referral units of Castilla y Leonduring 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. RESULTS: Four 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. CONCLUSION: Clinical 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.
PB Dove Medical Press LTD
SN 1177-5483
YR 2021
FD 2021-03
LK https://uvadoc.uva.es/handle/10324/68946
UL https://uvadoc.uva.es/handle/10324/68946
LA eng
NO Clin Ophthalmol, Mar, 2021, vol. 9; n. 15, p. 1075-1084.
NO Producción Científica
DS UVaDOC
RD 24-nov-2024