Relationship between Intrinsically Photosensitive Ganglion Cell Function and Circadian Regulation in Diabetic Retinopathy.

BACKGROUND: Intrinsically photosensitive retinal ganglion cells (ipRGCs) control non-visual light responses (e.g. pupillary light reflex and circadian entrainment). Patients with diabetic retinopathy (DR) show reduced ipRGC function, as inferred by abnormalities in the post illumination pupil response (PIPR). We explored whether ipRGC function in DR is associated with circadian outputs and sleep/wake behavior. METHODS: Forty-five participants (15 without diabetes, 15 with type 2 diabetes (T2D) and no DR, 15 with T2D and DR) participated. ipRGC function was inferred from the PIPR (pupil size following stimulus offset). Circadian outputs were melatonin amplitude (overnight urinary 6-sulfatoxymelatonin (aMT6s)) and timing (dim light melatonin onset (DLMO)), and evening salivary cortisol levels. Sleep/wake patterns were measured with wrist actigraphy and insomnia symptoms were assessed subjectively. RESULTS: Patients with T2D and DR had smaller PIPR and lower urinary aMT6s than other groups (p < 0.001). In adjusted regression models, smaller PIPR was associated with lower urinary aMT6s (ß = 4.552, p = 0.005). Patients with DR were more likely to have no detectable DLMO (p = 0.049), higher evening salivary cortisol, greater insomnia symptoms and greater sleep variability compared to other groups. Sleep duration, efficiency and rest-activity rhythms were similar. CONCLUSION: Reduced ipRGC function in DR is associated with circadian dysregulation and sleep disturbances, although a causal relationship cannot be established in this cross-sectional study. Prospective mechanistic and intervention studies examining circadian and sleep health in these patients are warranted.

Adie's tonic pupil as a manifestation of Sjögren's syndrome.

We here report two cases of Adie's tonic pupil, associated with clinical sensory polyneuropathy and Sjögren's syndrome, in one of whom it actually heralded the onset of the syndrome. Electrophysiology studies indicated absent H reflexes but normal peripheral nerve conductions, thus suggesting an involvement of the dorsal roots or spinal ganglion that would be in line with previously published reports of dorsal ganglionitis as the primary neuropathological lesion in Sjögren's syndrome. We suggest that all cases of tonic pupils should be screened for polyneuropathy and Sjögren's syndrome.

Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy case report.

A family with hereditary motor and sensory neuropathy type 1 (HMSN1) is reported. Three patients suffered only pupillary abnormality, two patients showed Adie's syndrome and peripheral neuropathy, and one had cranial neuropathy. Adie's syndrome and severe peripheral neuropathy. Autopsy of the latter revealed reduction of myelinated nerve fibers in the trigeminal, facial and hypoglossal nerves. There was extensive degeneration of the posterior column of the spinal cord. At the anterior horns, loss of motor neurons was observed, particularly at the lumbar level. The anterior and posterior roots showed loss of myelinated fibers. HMSN1 is only rarely associated with cranial neuropathy, and this is probably the first autopsy-proved case.

Pupila tónica de Adie / Adie's tonic pupil

Se trata de la presentación de seis casos con un síndrome pupilar benigno generalmente unilateral que se presenta en ausencia de otros signos y síntomas que manifiesten alguna enfermedad neurológica o sistémica

Cell body counts in human ciliary ganglia.

Baseline cell body counts were performed on 32 human ciliary ganglia obtained during 16 consecutive autopsies. The mean age of the individuals was 53.4 yr, with a range of 17-97 yr. The cell body counts ranged from 1088-6835 cell bodies per ganglion. The mean cell body count was 2473 for specimens from the right side, 2316 for the specimens from the left side, and 2394 for the combined sides. The mean counts in men were 2837 for the right sides, 2533 for the left sides, and 2685 for both sides. The mean counts in women were 2004 for the right sides, 2036 for the left sides, and 2020 for the combined sides. The decreased number of cell bodies in women compared to the population mean was not statistically significant. There was no correlation between age and cell body counts. There was also no statistically significant difference of the cell body counts from individuals with systemic hypertension, myocardial infarction, or cancer and the population mean.

[Adie's syndrome and polyneuropathy: apropos of a new case and a case of pupillotonia, polyneuropathy and generalized amyloidosis sparing the nerve]. / Syndrome d'Adie et polyneuropathie: à propos d'un noveau cas et d'une observation de pupille tonique, polyneuropathie et amylose généralisée respectant le nerf.

The association of Adie's syndrome and of neuropathy of chronic evolution is not a frequent occurrence; first made known by Togi in 1967, four cases have been described ever since. The authors report two new observations: one concerns a man showing a unilateral tonic pupil associated to sensory neuropathy, raised C.S.F. protein, rarefaction of myelinated fibres with schwannian proliferation, without amyloid deposit. The other is that of a woman affected with bilateral pupillotonia, motor neuropathy of the four limbs and generalized amylosis. If the first observation is comparable to the five cases reported, the second is more questionable: the absence of amyloid deposit on three nerve biopsies and at the ciliary ganglion level does not absolutely exclude the possibility of amyloid neuropathy.

Morphological basis of Adie's syndrome.

A female patient with Adie's syndrome died from unrelated disease at the age of 62. Both ciliary ganglia were seen to be severely depleted of nerve cells and still ongoing degeneration was seen in lumbar spinal ganglia, as well as in the posterior funiculi. This confirms earlier reports that primary pathological changes in Adie's syndrome are localized in the ciliary and spinal ganglia. Furthermore, it indicates that the underlying disease is still progressive after years.