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Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study

 Soyoung Ryu  ;  Hoon-Chul Kang  ;  Sung Chul Lee  ;  Suk Ho Byeon  ;  Sung Soo Kim  ;  Christopher Seungkyu Lee 
 YONSEI MEDICAL JOURNAL, Vol.64(2) : 133-138, 2023-02 
Journal Title
Issue Date
Epilepsy* / genetics ; Genotype ; Hamartoma* ; Humans ; Intellectual Disability* ; Mutation ; Refractive Errors* ; Retrospective Studies ; Tuberous Sclerosis Complex 1 Protein / genetics ; Tuberous Sclerosis Complex 2 Protein / genetics ; Tuberous Sclerosis* / complications ; Tuberous Sclerosis* / genetics ; Tumor Suppressor Proteins / genetics
Tuberous sclerosis ; genotype ; hamartoma ; phenotype
Purpose: To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population.

Materials and methods: A total of 98 patients with TSC were enrolled in Severance Hospital for a retrospective cohort study. The number of retinal astrocytic hamartoma and retinal achromic patch within a patient, as well as the size, bilaterality, and morphological type were studied. In addition, the refractive status of patients and the comorbidity of intellectual disability and epilepsy were also examined.

Results: Retinal astrocytic hamartoma was found in 37 patients, and bilateral invasion was observed in 20 patients (54%). TSC1 mutation was associated with myopia (p=0.01), while TSC2 mutation was associated with emmetropia (p=0.01). Retinal astrocytic hamartoma was categorized into three morphological types and examined as follows: type I (87%), type II (35%), and type III (14%). Single invasion of retinal astrocytic hamartoma was identified in 32% of the patients, and multiple invasions in 68%. The TSC1/TSC2 detection rate was 91% (41/45). Among them, TSC1 variant was detected in 23 patients (54%), whereas TSC2 variant was detected in 18 patients (40%). The results showed that TSC2 mutations are correlated with a higher rate of retinal astrocytic hamartoma involvement (all p<0.05), and multiple and bilateral involvement of retinal hamartomas (all p<0.05). However, the size of retinal astrocytic hamartomas, comorbidity of epilepsy, or intellectual disability did not show correlation with the genetic variant.

Conclusion: TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Sung Soo(김성수) ORCID logo https://orcid.org/0000-0002-0574-7993
Byeon, Suk Ho(변석호) ORCID logo https://orcid.org/0000-0001-8101-0830
Lee, Christopher Seungkyu(이승규) ORCID logo https://orcid.org/0000-0001-5054-9470
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