Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

AIM: To describe ophthalmological phenotypes in patients with mitochondrial disease and known genotypes. METHODS: A retrospective study was performed on 59 patients (29 male, 30 female) with a mean age of 11.8 years who had mitochondrial disease with known DNA mutations. Fifty-seven of the 59 subjects underwent a detailed ophthalmological examination including visual acuity (VA), eye motility, refraction, slit-lamp examination, ophthalmoscopy and, in almost one-half of the cases, a full-field electroretinogram (ERG). RESULTS: Forty-six (81%) of the patients had one or more ophthalmological findings such as ptosis (n = 16), reduced eye motility (n = 22) including severe external ophthalmoplegia (n = 9), strabismus (n = 4), nystagmus (n = 9), low VA (n = 21), refractive errors (n = 26), photophobia (n = 4), and partial or total optic atrophy (n = 25). Pigmentation in the macula and/or periphery was noted in 16 patients. In 10/27 investigated individuals with full field ERG, retinal dystrophy was recorded in six different genotypes representing Kearns-Sayre syndrome (n = 5), Leigh syndrome (n = 1), Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (n = 1), Myoclonus epilepsy with red ragged fibres (MERRF) (n = 1), Leber hereditary optic neuropathy (n = 1) and mitochondrial myopathy (n = 1). CONCLUSION: The results show that a majority of patients with mitochondrial disorders have ophthalmological abnormalities. We recommend that an ophthalmological examination, including ERG, be performed on all children and adolescents who are suspected of having a mitochondrial disease.

Visual function and ocular features in children and adolescents with attention deficit hyperactivity disorder, with and without treatment with stimulants.

AIMS: To investigate visual function and ocular features in children with attention deficit hyperactivity disorder (AD/HD) and establish whether treatment with stimulants is reflected in functioning of the visual system. METHODS: Detailed ophthalmologic evaluations without and with stimulants were performed in 42 children (37 boys) with AD/HD, mean age 12 years, and compared with a reference group (ref; n=50; mean age 11.9 years; 44 boys). For a comparison between two groups, Mann-Whitney's U-test was used for ordered and continuous variables; for dichotomous variables, Fisher's exact test was used. For paired comparison (with and without treatment), sign test was used. RESULTS: In all, 83% had visual acuity of >0.8 (<0.1 logMAR) without treatment, 90% with stimulants (ref 98%; P=0.032 and n.s., respectively). Heterophoria was found in 29% without, and in 27% with, stimulants (ref 10%; P=0.038 and n.s., respectively) and subnormal stereovision (>60 s of arc) in 26% (ref 6%; P=0.016) without stimulants, and in 27%, with (P=0.014). Abnormal convergence (>6 cm or absent) was noted in 24% (ref 6%; P=0.031) without treatment and in 17%, with (n.s.). Astigmatism (> or =1.0 D) was observed in 24% (ref 6%; P=0.03), and signs of visuoperceptual problems in 21% (ref 2%; P=0.007). We found smaller optic discs (n=8/38) and neuroretinal rim areas (n=7/38) (P<0.0001) and decreased tortuosity of retinal arteries (n=6/34) (P=0.0002) than that of controls. CONCLUSIONS: Children with AD/HD had a high frequency of ophthalmologic findings, which were not significantly improved with stimulants. They presented subtle morphological changes of the optic nerve and retinal vasculature, indicating an early disturbance of the development of these structures.

Visual and ocular findings in children adopted from eastern Europe.

AIMS: To evaluate ophthalmological findings in children adopted from eastern Europe. METHODS: A prospective study on 72/99 children, born 1990-5 and adopted from eastern Europe to western Sweden during 1993-7 was performed. The children (41 boys; mean age 7.5 years) were compared with an age and sex matched reference group ("ref") of Swedish children. RESULTS: 78% of the adopted children had abnormal ocular findings. 26% (ref 4%) had visual acuity (VA) of the better eye < or = 0.5 (> or = 0.3 logMAR) (p = 0.0001) and 8% (ref 0%) were visually impaired (p = 0.01). Amblyopia was found in 15% (ref 2%) (p = 0.005). 22% (ref 10%) were hyperopic (> or = 2.0 D SE) (NS) and 10% (ref 1%) were myopic (> or = 0.5 D SE) (p = 0.03). Astigmatism (> or = 0.75 D) was found in 51% (ref 23%) (p = 0.004). 32% (ref 2%) had strabismus (p<0.0001), mostly esotropia. Four cases had bilateral optic nerve hypoplasia, in three of whom a history of suspected prenatal alcohol exposure was documented. One child had congenital glaucoma. Signs of visuoperceptual problems were recorded in 37% (ref 1%) (p<0.0001). CONCLUSION: In this study, children adopted from eastern Europe had a high frequency of ophthalmological findings. Consequently, it is strongly recommended that an ophthalmological examination be performed in these children after arrival in their new home country.