Ophthalmic manifestations in children with tuberous sclerosis complex.

PURPOSE: To report on the ophthalmic findings in children with tuberous sclerosis complex (TSC) in southern Sweden, and to investigate the frequency of refractive errors, strabismus and cerebral visual impairment associated with this condition. METHODS: This was a retrospective cohort study including all paediatric patients with TSC in southern Sweden born between 1983 and 2020. Medical records were reviewed regarding retinal findings, visual acuity, refractive error, strabismus, full-field electroretinography results and cerebral visual impairment. RESULTS: Ophthalmological records were available for 50 of the 52 children in the region diagnosed with TSC. The mean age at the last visit was 12.4 (SD 7.2) years. Monocular visual acuity had been measured in 38 patients, and the median value did not deviate from that expected for their age in the better eye, but by -0.2 Snellen decimal acuity in the worse eye. Refractive errors were found in 62% of the patients, and strabismus in 16%. Retinal astrocytic hamartomas were found in 34% and achromatic patches in 34%. Ten of the patients on medication with vigabatrin were examined with full-field electroretinography and treatment had to be stopped or lowered in three (30%), due to a reduced response. Investigation of cerebral visual impairment had not been conducted in any of the children. CONCLUSION: Refractive errors and strabismus were common among children with TSC. None of the patients in this cohort had undergone investigation for cerebral visual impairment. The general awareness of cerebral visual impairment among ophthalmologists is poor and constitutes an important area for improvement.

Case report: Bilateral damage to the immature optic radiation and secondary massive loss of retinal ganglion cells causing tunnel vision.

We describe the case of a 30-year-old woman, who needed a formal report on her visual impairment to seek support from society. She was born preterm, and during her neonatal period, she suffered from bilateral intraventricular hemorrhage (IVH) grade 3, a condition that can cause cerebral visual impairment (CVI) due to damage to the retro-geniculate visual pathways. Individuals with such brain damage of this severity are often restricted by cerebral palsy (CP) and intellectual disability, and thus have a limited ability to cooperate in the assessment of visual function. However, our patient was capable of providing reliable test results, and she manifested only a small island of central vision in each eye, with additional reduced visual acuities. She cooperated well in examinations involving MRI of the brain, optical coherence tomography (OCT) of retinal ganglion cells, and multi-focal visual evoked potentials, with each test providing information about potential limitations in the structural prerequisites for visual function. What distinguishes our case is the severity of the damage to the optic radiations and the massive secondary loss of most of her retinal ganglion cells (GCs). However, there is some measurable visual function, which may be due to developmental neuroplasticity during early development, when surviving GCs prioritize the central visual field. Despite her visual difficulties, she is a keen portrait painter. Our patient may be representative of, and a spokesperson for, other individuals with extensive brain damage of the same etiology, who are unable to perform perimetric tests and therefore run the risk of not being recognized as severely visually impaired, and consequently, not being given the best conditions for habilitation. OCT may serve as a helpful diagnostic tool. Aim: This study aims to describe visual behavior and practical applications of visual function in relation to structural prerequisites for visual function.

Ageing and glaucoma progression of the retinal nerve fibre layer using spectral-domain optical coherence tomography analysis.

PURPOSE: To compare the effects of ageing and glaucoma progression on the thickness of the circumpapillary retinal nerve fibre layer (cpRNFL) and to evaluate the performance of a set of optical coherence tomography (OCT) progression analyses. METHODS: The cpRNFL was measured twice by OCT at each of two visits made 10 years apart in 69 healthy individuals and 49 glaucoma patients. Both visits also included Humphrey 24-2 SITA standard testing. The change in cpRNFL thickness was analysed by linear regression, and a sub-analysis was performed on glaucoma patients with a perimetric mean deviation better than -10 dB at the first visit. The proportion of individuals whose OCT progression analyses indicated progression was also evaluated for the same groups. RESULTS: The average cpRNFL thickness deteriorated by a mean of -0.16 µm/year in the healthy cohort, increased by 0.03 µm/year in the glaucoma cohort, and deteriorated by -0.24 µm/year in eyes with less severe glaucoma; there were no statistically significant differences between the groups. For 17 (30%) of 56 healthy individuals, at least one of the three different OCT progression analyses incorrectly indicated progression. CONCLUSIONS: No significant differences in change of cpRNFL thickness between visits were found when comparing healthy subjects with glaucoma patients. Also, further cpRNFL thinning was not observed in glaucomatous eyes in which at least one-third of the visual field had been lost. The OCT progression analyses generated a relatively high proportion of false positives. Using OCT for glaucoma follow-up may not be entirely straightforward.