| Phenotype details |
familial exudative vitreoretinopathy stage 5 right eye 4B left eye (HP:0030490), osteopenia (HP:0000938); early onset nystagmus with severe retinopathy and rapid development of retinal detachment in the left eye; 1y: pars plana vitrectomy and Argon laser photocoagulation in the right eye for stage 4B familial exudative vitreoretinopathy (retinal detachment involving the macula with falciform fold anchored in the temporal retinal sector and abnormal peripheral exudation); left eye was too advanced due to stage 5 familial exudative vitreoretinopathy (closed funnel retinal detachment); 3y: cataract surgery with intraocular lens implant resulting in stable visual acuity of 0.6 LogMAR in the right eye for the next 3 years; 7y: sudden visual loss (1.0 LogMAR) fluorangiography: retinal exudation next to the falciform fold in the macular area, underwent retinal cryotreatment; subsequent examination showed reabsorption of the exudates and no signs of angiographic leakage; visual acuity restored to 0.6 LogMAR; total X-ray examination of the proband showed thin, elongated diaphyses of the long bones with relatively wider metaphyses, valgus deviation of the femoral neck- diaphysis axis, evident reduction in calcium tone and no other skeletal alterations; dual energy X-ray absorptiometry (DXA): L1 to L4 bone mineral density as 0.4 g/cm2 (Z-score: -1.8); familial exudative vitreoretinopathy stage right/left eye: 4B/5; bone mineral density: osteopenia |
