[Visual symptoms by syphilis].

This case presents a 42-year-old homosexual man with weight loss, urticaria type rash, tinnitus/phonophobia, dizziness and blurred vision and scotoma on the left side. Visual acuity was affected and a left papillitis was present. The patient was tested positive for antibodies against Treponoma pallidum. This case illustrates that symptoms of the syphilis disease can come from different organ systems and cross medical specialties. We encourage clinicians to more readily think of syphilis whenever there is a sexual active patient with complaints from different parts of the body.

[Anisometropia can only be detected by a monocular vision examination]. / Anisometropi opdages kun ved monokulær synsprøve

In recent years the Eye Department at Aalborg University Hospital has had many referrals of older children with severe amblyopia due to anisometropia. Anisometropia is not visible, thus a monocular vision examination is needed in order to detect it. Early detection increases the possibilities for a better post treatment visual acuity. Recent studies indicate positive treatment response also in older children, and some older individuals respond dramatically. Currently it is not possible to predict who will respond, and therefore treatment should be offered despite the age of the child if the child and parents are motivated for it.

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 Leber's 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.

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. METHODS: Between 1 January 2000 and 31 December 2008, we screened all students with severe DD starting in special needs schools in Northern Jutland, Denmark for vision. All students with visual acuities ≤6/12 were refractioned and examined by an ophthalmologist. RESULTS: Of 502 students, 56 (11%) had visual impairment (VI) [visual acuity (VA) ≤ 6/18], of which 21 had been previously undiagnosed. Legal blindness was found in 15 students (3%), of whom three had previously been undiagnosed. Students tested with preferential looking systems (N = 78) had significantly lower visual acuities [VA (decimal) = 0.55] than students tested with ortho types [VA (decimal) = 0.91] and had problems participating in the colour and form tests, possibly due to cerebral VI. The number of students with decreased vision identified by screening decreased significantly during the study period (r = 0.724, p = 0.028). The number of students needed to be screened to find one student with VI was 24 and to identify legal blindness 181 needed to be screened. CONCLUSION: Visual impairment is a common condition in students with severe DD. Despite increased awareness of VI in the school and health care system, we continued to find a considerable number of students with hitherto undiagnosed decreased vision.

Precision and accuracy of the ICare tonometer - Peripheral and central IOP measurements by rebound tonometry.

PURPOSE: The purpose of this study was to evaluate the ICare tonometers precision and accuracy and the extent to which intraocular pressure (IOP) measurements are influenced by measuring position. METHODS: This was carried out by comparing the central and peripheral ICare-IOP readings and comparing ICare- with the Goldmann applanation tonometer (GAT)-IOP readings. IOP was measured using the ICare rebound tonometer on the right eye of 40 subjects, straight at the centre of the cornea (CS), straight 2 mm from the nasal and temporal limbus (NS and TS), and in 10 degrees nasally and temporally angled positions measured from the same location as CS (NA and TA). The IOP was also assessed with the GAT. RESULTS: Central IOP (CS) was significantly (p < 0.001) greater than peripheral measurements (NS, TS, NA and TA) by approximately 3-4 mmHg. Centre IOP (CS) significantly overestimated by mean 2 mmHg and the peripheral measurements significantly underestimates approximately 1.4-2 mmHg compared with GAT readings. CONCLUSION: The ICare tonometer may be useful in a routine clinical setting for IOP screening, but the ICare measurement is not a substitute for the GAT measurement, when a precise and accurate IOP is desired.

Experts do not agree when to treat retinopathy of prematurity based on plus disease.

OBJECTIVES: To investigate inter-reader agreement on five severity levels of central vascular changes (none, mild, moderate, severe pre-plus disease, plus disease) and aggressive posterior retinopathy of prematurity (ROP), and to see whether an unintended shift in indication for treatment occurred. METHODS: Four international ROP readers participated. Before the grading of the photographs, the readers were informed that a high proportion of advanced ROP cases were included. In total, 243 photographs/948 quadrants were available from 136 infants. As a standard series of photographs was available, grading was performed under optimised conditions. RESULTS: The four readers agreed on the quadrant scores of only 70 (7.38%) of the 948 quadrants--that is, on 1, 5, 15, 4 and 45 quadrants for scores 0, 1, 2, 3 and 4, respectively. The mean scores differed systematically between the readers (permutation test, p<0.0001). Agreement on presence of aggressive posterior ROP from all four readers was not obtained for any of the photographs. Readers scored plus disease in at least two quadrants in 95.5% of the eyes for which treatment was indicated. All four readers agreed on the scoring of indication for treatment for 195 eyes (80.2%); however, treatment was only recommended in 18 (7.4%) eyes. One reader was found to differ systematically from the others in indicating treatment (Rasch analysis; p=0.0001). Finally, a significant shift in indication for treatment occurred between birth period 2000-2002 and 2003-2006 (Mann-Whitney rank sum test, p<0.001). CONCLUSIONS: Inter-reader agreement on central vascular changes is poor, especially when based on more than two rating categories. The subjective nature of diagnosing such vascular changes possibly resulted in earlier treatment of preterm infants in Denmark over the entire study period (1997-2006). The recent increased incidence of treated infants in Denmark is, at least in part, explained by a significant shift in indication for treatment.

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. METHODS: Eighty-two patients with congenital esotropia were treated with botulinum toxin type A transconjunctival injections into the medial recti muscles. RESULTS: A Kaplan--Meier curve shows a 24-month success rate of 87% (n = 53) with alignment within 20 prism dioptres (PD) of the 80 patients who were seen at least 1 year following the last injection. Seven of the 80 patients underwent standard monocular surgery with recession of the medial rectus and resection of the lateral rectus muscle. Two patients were lost during follow-up. CONCLUSION: Botulinum toxin type A injections into the medial recti muscles are a valuable alternative to conventional strabismus surgery.

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. METHODS: We report an 11-year-old boy who was admitted to hospital because of general fatigue and weight loss. Blood tests showed renal insufficiency and a renal biopsy revealed acute tubulointerstitial nephritis. One week after admission the patient developed transitory blurred vision and flickering shadows in the left eye. Slit-lamp examination revealed bilateral anterior non-granulomatous uveitis and TINU syndrome was diagnosed. RESULTS: Because of renal insufficiency the patient was treated with systemic prednisone 50 mg/day for 3 weeks. Evolution was favourable, and prednisone was tapered over 10 weeks. Uveitis was treated with topical steroid with good effect. The only complication after 18 months of follow-up was transitory cushingoid aspect. CONCLUSIONS: Tubulointerstitial nephritis and uveitis syndrome is a rare syndrome that is probably underdiagnosed in clinical practice. Co-operation between ophthalmologists and nephrologists/paediatricians is crucial for early diagnosis and instigation of treatment. Uveitis may occur before tubulointerstitial nephritis or the renal symptoms may be so mild that the patient is unaware of them. Therefore, ophthalmologists play an important role in the initial discovery of patients with TINU syndrome. Tubulointerstitial nephritis tends to be self-limiting, whereas uveitis tends to relapse and recurrences tend to be more severe than the initial uveitis. Therefore, the patient must be ophthalmologically monitored very carefully.

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

PURPOSE: To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150). METHODS: CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood sampling from one large family. Genomewide linkage analysis, fine mapping, and direct genomic DNA sequencing of nine cataract candidate genes were applied. Restriction enzyme digests confirmed identified mutations. RESULTS: Analyses of 10 Danish families with hereditary congenital cataract and microcornea revealed five novel mutations. Three of these affected the crystallin, alpha-A gene (CRYAA), including two mutations (R12C and R21W) in the crystallin domain and one mutation (R116H) in the small heat shock domain. One mutation (P189L) affected the gap junction protein alpha 8 (GJA8), and one mutation (Y134X) was detected in crystallin gamma-D (CRYGD). CONCLUSIONS: The identification of a CRYGD mutation adds another gene to those that may be mutated in CCMC and underscores the genetic heterogeneity of this condition. Three CRYAA mutations at the R116 position, in association with CCMC, suggest that R116 represents a CCMC-mutational hotspot. The CCMC phenotype demonstrates variable expression with regard to cataract morphology and age of appearance. Clinical heterogeneity, including additional malformation of the anterior segment of the eye, confirm that dedicated cataract genes may be involved in the largely unknown developmental molecular mechanisms involved in lens-anterior segment interactions.

[Ischemic cerebral infarction in a young woman undergoing gonadotropin treatment for infertility]. / Iskaemisk cerebralt infarkt hos en ung kvinde i behandling med gonadotropin på grund af infertilitet.

We describe a case of a 27-year-old previously healthy woman with a homonymous hemianopsia caused by thrombosis of a branch of the posterior cerebral artery. The woman had been treated with gonadotropin due to infertility and gone through in vitro fertilisation before the symptoms started. She was pregnant in the first trimester when we first saw her. We did not find any predisposing factors, and the clinical examination, including biochemical analysis, MRI arteriography and echocardiography, did not reveal any cause for the cerebral infarction (CI). The risk of CI during pregnancy itself is less than among non-pregnant women (0, 7) but increases in the postpartum period (8, 7). The cause of cerebral infarction in this case was idiopathic, but we must be aware of the possible link between treatment with gonadotropin for infertility and the development of cerebral infarction.

Age-related macular degeneration: filter lenses help in certain situations.

PURPOSE: To investigate the ability of different filter lenses to enhance the contrast sensitivity of patients with age-related macular degeneration (AMD). METHODS: A total of 32 patients with non-exudative AMD and no other significant eye diseases underwent the study tests using their optimal correction. We used Hyvärinen's contrast sensitivity tests with 100%, 10%, 5%, 2.5% and 1.25% charts. All the tests were made without filter lenses and with the Corning 527 and LVI 527 lenses. RESULTS: With the 100% charts, there was a slight tendency towards contrast sensitivity improvement with LVI filter lenses, but the degree of improvement was not statistically significant. With the 10% charts, contrast sensitivity improved significantly with LVI 527 filter lenses, but not with Corning 527 lenses. It was not possible to perform statistical analyses of the results with the 5%, 2.5% and 1.25% charts. CONCLUSION: Use of LVI filter lenses may improve contrast sensitivity in certain situations in patients with AMD.