[Not Available].

This is a case report of a 3-year-old boy who presented with unilateral anterior uveitis and tonic pupil following varicella-zoster virus (VZV) Infection. The patient had red and irritated eyes and photophobia. Ophthalmological findings included anterior uveitis and tonic pupil accompanied by reduced vision and accommodation.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four individuals from three families with neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in the SLC44A1 gene encoding choline transporter-like protein 1. Clinical features included progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence.

[Good social function in a child with severe visual loss due to colobomas].

A child born with bilateral colobomas was referred to the department of ophthalmology. At birth the child was assumed to be blind. During the follow-up period of seven years his visual acuity improved to 0.

[Traumatic optic neuropathy after fall with a bamboo stick].

Traumatic optic neuropathy (TON) is a rare and potentially vision-threatening condition caused by ocular or head trauma. The treatment of TON is controversial with no evidence-based guidelines. We describe a case of an eight-year-old boy, who lost his vision on the right eye after having had a trauma of his left lower eyelid when he fell with a bamboo stick.

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glaucoma (PCG). Megalocornea is also a feature of Neuhäuser or megalocornea-mental retardation (MMR) syndrome, a rare condition of unknown etiology.

Mortality in patients with central retinal vein occlusion.

Purpose: To assess mortality in patients with central retinal vein occlusion (CRVO).

Design: Registry-based cohort study.

Participants And Controls: Four hundred thirty-nine photographically verified CRVO patients and a control cohort of 2195 unexposed subjects matched by age and gender and alive on the date CRVO was diagnosed in the corresponding case.

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation.

Xeroderma Pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) are rare, recessive disorders caused by mutational defects in the Nucleotide Excision Repair (NER) pathway and/or disruption of basic cellular DNA transcription. To date, a multitude of mutations in the XPD/ERCC2 gene have been described, many of which give rise to NER- and DNA transcription related diseases, which share certain diagnostic features and few overlap patients have been described. Despite increasing understanding of the roles of XPD/ERCC2 in mammalian cells, there is still weak predictability of somatic outcome from many of these mutations.

Comorbidity in patients with branch retinal vein occlusion: case-control study.

Objectives: To evaluate comorbidity before and after the diagnosis of branch retinal vein occlusion to determine whether it is a consequence of arterial thickening and therefore could serve as a diagnostic marker for other comorbidities and to evaluate the risk factors for the development of such occlusion.

Design: Case-control study with prospective follow-up data from Danish national registries.

Setting: Four secondary referral centres covering about 80% of the Danish population (4.

[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].

Richner-Hanhart syndrome or oculocutaneous tyrosinemia is characterized by painful palmo-plantar keratoderma, keratitis with photophobia and progressive mental impairment. The syndrome is caused by deficient hepatic tyrosine aminotransferase and is inherited as an autosomal recessive trait. We report a 28 year-old woman with lifelong photophobia, eye pain and painful plantar hyperkeratotic lesions, necessitating use of a wheelchair.

Mortality in patients with branch retinal vein occlusion.

Purpose: To assess the impact of branch retinal vein occlusion (BRVO), a condition related to arteriolar wall thickening, as a prognostic marker of mortality.

Design: Long-term follow-up study comparing cases with background population.

Participants: Patients diagnosed with BRVO.