| Institution: | 1. Ophthalmology Division, Hospital de Clínicas de Porto Alegre (HCPA) , Porto Alegre, Brazil patriciagus@me.com https://orcid.org/0000-0001-5503-2331;3. Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA) , Porto Alegre, Brazil;4. Ophthalmology Division, Hospital de Clínicas de Porto Alegre (HCPA) , Porto Alegre, Brazil;5. , Hospital Banco de Olhos de Porto Alegre (HBO) , Porto Alegre, Brazil;6. Medical Student, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) , Porto Alegre, Brazil |
| Abstract: | ABSTRACT Background Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. |
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https://orcid.org/0000-0001-5503-2331;3. Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA) , Porto Alegre, Brazil;4. Ophthalmology Division, Hospital de Clínicas de Porto Alegre (HCPA) , Porto Alegre, Brazil;5. , Hospital Banco de Olhos de Porto Alegre (HBO) , Porto Alegre, Brazil;6. Medical Student, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) , Porto Alegre, Brazil