Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy

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.

Pneumonia and ocular disease as the primary presentations of Takayasu arteritis: a case report

“…For example, a young man who presented with atypical keratitis was finally diagnosed with coronavirus disease 2019 [10] . Another patient with Adams-Oliver syndrome, a genetic disorder causing extremity and scalp defects, was reported to have signs of exudative vitreoretinopathy [11] . These cases and the present case serve as a reminder that clinicians who evaluate patients with eye disorders must consider and rule out systemic diseases.…”

De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family

“…The condition can manifest in various clinical syndromes, ranging from mild peripheral avascularity with normal visual acuity to severe retinal detachment, ultimately leading to blindness. FEVR can associate with intellectual disabilities [1][2] , and is reported to be autosomal dominant (AD), autosomal recessive inheritance (AR), or X-linked inheritance trait, and genetically associated with the genes of FZD4 [3] , LRP5 [4] , TSPAN12 [5] , NDP [6] , KIF11 [7] , ZNF408 [8] , RCBTB1 [9] , CTNNB1 [10] , and JAG1 [11] . While point gene variations in nucleic acids have commonly been implicated in the disease, recent studies have also identified copy number variants (CNVs) as contributing factors.…”