New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma

BMC Ophthalmology

Table 1 Clinical profiles of choroidal ganglioneuroma cases in literature

	Case	Sex	Age (Years)	Eye	Clinical presentation	NF-1	Treatment
1	Wolter	Female	42	Left	Cataract, glaucoma, buphthalmos	Yes	Enucleation
2	Woog et al	Female	21	Left	Cataract, retinal detachment, buphthalmos	Yes	Enucleation
3	Browstein et al	Female	< 1	Left	Congenital glaucoma, buphthalmos, plexiformneurofibroma	Yes	Enucleation
4	Shome et al	Male	11	Left	Glaucoma, buphthalmos, plexiform neurofibroma,sphenoid wing dysplasia	Yes	Evisceration
5	Ishijima et al	Male	7	Left	Cataract, retinal detachment, buphthalmos	Yes	Enucleation
6	Lad et al	Female	< 1	Right	Cataract, buphthalmos, sphenoid wing dysplasia	Yes	Enucleation
7	Yazici et al	Female	17	Left	Cataract, glaucoma, buphthalmos plexiformneurofibroma	Yes	Evisceration
8	Goyal et al	Female	< 1	Right	Buphthamos, hypoglobus, plexiform neurofibroma	Yes	Exenteration viacraniotomy access.
9	Chang et al	Male	42	Right	Cataract, optic nerve glioma, neurofibroma,	Yes	Enucleation
10	Mbagwu et al	Female	5	Right	Proptosis, glaucoma, sphenoid wing dysplasia	Yes	Enucleation
11	Abdulkader et al	Male	50	Right	Cataract, glaucoma, buphthalmos, plexiformneurofibroma, frontoethmoidal encephalocele	Yes	Orbital exenteration
12	DeParis et al	Female	5	Right	Glaucoma, retinal detachment, macrocephaly,developmental delay	No	Enucleation
13	Gilani et al	Male	7	Not mentioned	Invading plexiform neurofibroma, choroidallayer expanding	Yes	Enucleation
14	Present case	Male	6	Bilateral	Retinal detachment and diffuse choroidalthickening	No	IOP lowering medicines

ISSN: 1471-2415