Page 160 - Demo

Chapter 5158One child, with consanguine parents, had a VA of 2.5 logMAR probably caused by keratoconus, subcapsular cataract and tapetoretinal degeneration. One of the siblings of this patient also had tapetoretinal degeneration. This was the only patient referred to the ophthalmologist for suspected visual impairment in whom visual impairment was found.Refractive measurements were available for 212 eyes of 106 patients (80%) (Table 2). Moderate to severe hyperopia was seen in 87 eyes (41%) and was persistently high in children from the age of 6 years up to adulthood. Moderate to severe myopia was present in only a small number of eyes (N=12 eyes, [6%]). High astigmatism was reported in 49 eyes (23%). A moderate statistically significant negative correlation was found between age and cylinder power (Spearman’s Rho OD: -0.538, p=0.000, OS: -0.510, p=0.000). Most common was against-the-rule astigmatism (N=57/128 eyes, [45%]). With-the-rule astigmatism (N=37/128 eyes, [29%]) and oblique astigmatism (N=34/128 eyes, [27%]) were seen almost equally often. Glasses were prescribed for 35 children (35%) and 23 adults (74%), prior or during last ophthalmic screening. A headache was reported for 32 patients (24%) recently before or during last ophthalmic screening.Table 2. Refractive errors found in 212 eyes of 106 patients with 22q11.2DS. <6y 6-11.9y 12-17.9y ≥18y totalNumber of eyes examined 56 68 32 56 212Spherical equivalent % % % % %≤-4.0D (severe) 4 0 0 7 3-4.0D- -2.01D (moderate) 0 1 6 5 3-2.0- -0.51D (mild) 2 9 3 18 8-0.5- 0.5D 11 7 16 16 120.51- 2.0D (mild) 46 31 22 32 342.01- 4.0D (moderate) 25 29 31 16 25≥4.0D (severe) 13 25 22 5 16Cylindrical error≤-2D (high) 5 24 25 39 23Abbreviations: D=diopters, y=years.Most reported ocular findings are shown in Table 3 and include retinal vascular tortuosity (N=38, [32%]), posterior embryotoxon (N=23, [22%]),