Citation:Jin EZ,Huang LZ,Zhao MW,Yin H.Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.Int J Ophthalmol 2022;15(8):1249-1253,doi:10.18240/ijo.2022.08.04
Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy
Received:September 23, 2021  Revised:November 09, 2021
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DOI:10.18240/ijo.2022.08.04
Key Words:Adams-Oliver syndrome  familial exudative vitreoretinopathy  gene sequencing  DOCK6  mutation
Fund Project:Supported by the National Natural Science Foundation of China (No.81800850).
           
AuthorInstitution
En-Zhong Jin Department of Ophthalmology, Ophthalmology & Optometry Center, Peking University People’s Hospital, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroidal Diseases, Beijing , China
Lyu-Zhen Huang Department of Ophthalmology, Ophthalmology & Optometry Center, Peking University People’s Hospital, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroidal Diseases, Beijing , China
Ming-Wei Zhao Department of Ophthalmology, Ophthalmology & Optometry Center, Peking University People’s Hospital, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroidal Diseases, Beijing , China
Hong Yin Department of Ophthalmology, Ophthalmology & Optometry Center, Peking University People’s Hospital, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroidal Diseases, Beijing , China
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Abstract:
      AIM: To report an atypical Adams-Oliver syndrome (AOS) family with typical ocular signs of familial exudative vitreoretinopathy (FEVR).

    METHODS: A patient with visible avascular area and obvious non-perfusion zone in the peripheral retina with systemic signs of AOS was reported. Familial and personal characteristics were collected for the patient and his sister. Gene sequencing and ophthalmic examinations including fluorescein angiography were all performed for the whole family.

    RESULTS: Two novel mutations of DOCK6 (c.1396C>T and c.4796G>A) were identified in the proband and his family, and two compound heterozygous mutations were revealed in the proband and his sister. The patient and his sister showed physical deformities and mental abnormalities while FEVR mimicking retinal disorder can also be defined. No remarkable ocular or systemic abnormality can be observed for their parents. Peripheral retinal non-perfusion area, obvious abnormal vascularization or even retinal fold were observed in the proband and his sister, while only small avascular zone was identified for their parents.

    CONCLUSION: This is the first genetic authenticated AOS case mimicked as FEVR with genetic sequencing of a family. For the patients with ocular phenotype of FEVR, further examination should be performed if the systemic or mental abnormalities exist.

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