Kirsten Lau Baggesen

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Lebers hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6.

Tubulointerstitial nephritis and uveitis (TINU) syndrome: a case report and review of the literature

Purpose:  We aim to describe the first case of tubulointerstitial nephritis and uveitis (TINU) syndrome reported in Scandinavia and to underline the importance of the syndrome, which should be better known among ophthalmologists.

SIGNIFICANT EFFECT OF HIGH-RESOLUTION HLA-DRB1 MATCHING IN HIGH-RISK CORNEAL TRANSPLANTATION1

The effect of HLA matching in corneal transplantation is still--after numerous of studies--disputable. We investigated the effect of DRB1 matching in high-risk cases with vascularization and/or retransplantation. Only class II antigens were matched because we were unable to obtain donor lymphocytes for HLA typing. Typing was performed on DNA isolated from the ocular tissues up to 24 hr after death. When this study was initiated, DNA-based methods had been developed only for class II typing. The first part of the study concerns 74 cases with at least 3 years of observation fully matched for 17 DRB1 specificities detected using restriction fragment-length polymorphism. This showed an improved long-term graft survival of 72% compared with 45% in a historical control group of 23 comparable cases. In the second part of the study, stored DNA samples from the restriction fragment-length polymorphism-matched donor-recipient pairs were subjected to retyping with a new method based on sequence-specific polymerase chain reaction. It was possible to split DRB1*01, *04, and *11 in 3, 14, and 5 alleles, respectively. The matching was then re-assigned taking all splits into account. This showed that 36 cases had at least one incompatibility, whereas 38 cases were fully compatible. The long-term graft survival rate was 79% in the matched group compared with only 59% in the mismatched group, which is significantly different at P=0.032. This retrospective, but blinded, randomized study is strong evidence for the effect of matching and may give scope for international collaboration to obtain completely matched corneas for this group of patients.

HLA‐DR/RFLP compatible corneal grafts

Abstract. Fifty‐one elective high risk transplantations were matched according to HLA/DR antigens and RFLP‐subtypes. The 18 months survival of the grafts are 93% in the matched group compared to 50% in a non‐matched compatible historical control group.

Retinal detachment following intracapsular cataract extraction

Abstract A retrospective investigation of aphakic retinal detachments following intracapsular cataract extraction during a 12‐year period was performed. A total of 8350 eyes had intracapsular cataract extraction in the study period and 118 eyes developed aphakic retinal detachment. The occurrence of retinal detachment is related to age, sex, intraoperative complications, myopia, hyperopia, and pseudophakia. Age and myopia were significantly associated with aphakic retinal detachment. Previous aphakic retinal detachment in the one eye was a strong predictor for the other eye.

Visual abilities of students with severe developmental delay in special needs education – a vision screening project in Northern Jutland, Denmark

Purpose:  To investigate the visual abilities of students with severe developmental delay (DD) age 6–8 starting in special needs education.

Cataracts in Morquio syndrome

Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients. Lenticular opacities have not previously been described in patients with Morquios syndrome IV A.

Treatment of congenital esotropia with botulinum toxin type A.

Purpose:  To examine the effect of botulinum toxin type A injections given transconjunctivally into the medial recti muscles in patients with congenital esotropia.

Topiramate-induced acute bilateral myopia

proliferative complications (Munir et al. 2005). However, intravitreal TA injection into the SO-filled vitreous cavity may be inadequate given that: (i) it might significantly increase the IOP due to volume expansion; (ii) whitish TA crystals might opacify the visual axis; and (iii) TA may not dissolve in SO, preventing its diffusion to the macula surface (Spitzer et al. 2009). The DEX Implant causes minimal volume expansion and no media opacity. While its ability to release therapeutic concentration of steroid inside the SO bubble has not been tested, a fluocinolone acetonide implant (Retisert ; Bausch & Lomb, USA) in the SO-filled eye was recently shown to effectively treat refractory inflammation associated with uveitic hypotony (Dayani et al. 2011). The DEX implant is biodegradable and injected without surgery and thus advantageous over the fluocinolone implant. This report is limited by its description of a single case and short followup. Nonetheless, we believe it is the first to suggest the DEX Implant in SO-filled, vitrectomized eyes for the management of refractory MO secondary to chronic noninfectious uveitis.

Tubulointerstitial nephritis and uveitis (TINU) Syndrome: a case report and review of the literature: author’s reply

Editor, T homassen and colleagues describe an 11-year-old boy with tubulointerstitial nephritis and uveitis (TINU) syndrome (Thomassen et al. 2009). The authors do not mention whether there were autoantibodies against antigen in both tubulars and uveal cells. Such findings were found in a 15-year-old boy diagnosed with TINU syndrome. (Abed et al. 2008) It is interesting if their case shows similar result. This would support the immune-mediated process as the pathogenesis of TINU syndrome.