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Mohammad Reza Akbari ocular

Mohammad Ali Zare, Mohammad Reza Akbari, Mohammad Yaser Kiarudi, Hadi Zare Mehrjardi
Duane's retraction syndrome (DRS) is characterized by limitations in horizontal eye movements, globe retraction, and palpebral fissure narrowing on attempted adduction. This disorder is caused by a disturbance in innervation originating in the brain stem and represents <1% of all cases of strabismus. It is postulated that this syndrome is due to an insult during the early weeks (8-10 weeks) of pregnancy and is 10-20 times more frequently associated with other systemic congenital anomalies. This case report of bilateral DRS included bilateral iris-retinal coloboma and congenital heart disease, sensory hearing loss, and inguinal hernia...
July 2016: Middle East African Journal of Ophthalmology
Faravareh Khordadpoor-Deilamani, Mohammad Taghi Akbari, Morteza Karimipoor, Gholam Reza Javadi
Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study...
May 2016: Journal of Human Genetics
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