UNLABELLED: Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico. OBJECTIVE: To report on the ocular findings of two Puerto Rican patients with OCA IA due to the G47D Tyrosinase gene mutation. PATIENT AND FINDINGS: Two unrelated patients with OCA underwent a comprehensive eye examination and were referred for genetic analysis. Patients had almost total iris transillumination, clear lenses, foveal hypoplasia with transparent maculae, and albinotic mid peripheries. Both patients had nystagmus, and only one patient had strabismus. CONCLUSIONS: Patients with the G47D muta- tion leading to OCA IA have poor visual acuities and poorly pigmented phenotypic ophthalmic findings. Further studies comparing ocular findings in patients th several mutations leading to OCA IA are warranted. To our knowledge this is the first report on ocular findings in Puerto Rican patients with OCA type IA with the rare G47D mutation.
UNLABELLED: Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico. OBJECTIVE: To report on the ocular findings of two Puerto Rican patients with OCA IA due to the G47DTyrosinase gene mutation. PATIENT AND FINDINGS: Two unrelated patients with OCA underwent a comprehensive eye examination and were referred for genetic analysis. Patients had almost total iris transillumination, clear lenses, foveal hypoplasia with transparent maculae, and albinotic mid peripheries. Both patients had nystagmus, and only one patient had strabismus. CONCLUSIONS:Patients with the G47D muta- tion leading to OCA IA have poor visual acuities and poorly pigmented phenotypic ophthalmic findings. Further studies comparing ocular findings in patients th several mutations leading to OCA IA are warranted. To our knowledge this is the first report on ocular findings in Puerto Rican patients with OCA type IA with the rare G47D mutation.
Authors: Pedro J Santiago Borrero; Yolanda Rodríguez-Pérez; Jessicca Y Renta; Natalio J Izquierdo; Laura Del Fierro; Daniel Muñoz; Norma López Molina; Sonia Ramírez; Glorivee Pagán-Mercado; Idith Ortíz; Enid Rivera-Caragol; Richard A Spritz; Carmen L Cadilla Journal: J Invest Dermatol Date: 2006-01 Impact factor: 8.551
Authors: Je Hyun Seo; Young Suk Yu; Jeong Hun Kim; Ho Kyung Choung; Jang Won Heo; Seong-Joon Kim Journal: Ophthalmology Date: 2007-03-06 Impact factor: 12.079