Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography. Results: Over the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males. Conclusions: Our data support the viewpoint that AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity.

OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS.

PURPOSE: To report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis. METHODS: Two case reports. RESULTS: Two 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness, and behavioral problems. Optical coherence tomography showed an overall reduction in thickness of the central retina, as well as the outer and the inner retinal layers. The degenerative retinal changes were the same, despite different mutations in the CLN3 gene. CONCLUSION: In these rare cases of juvenile neuronal ceroid lipofuscinosis, optical coherence tomography enabled unambiguous detection of prominent morphologic abnormalities of the retina at the patient's first presentation. The advanced stage of photoreceptor degeneration seen in our patients shows that a diagnosis can potentially be made much earlier.

The prevalence of retinopathy in an unselected population of type 2 diabetes patients from Arhus County, Denmark.

PURPOSE: To determine the prevalence of diabetic retinopathy and the causes of visual impairment in an unselected population of type 2 diabetes patients, and to describe the risk factors for developing diabetic retinopathy in this population. METHODS: A total of 10 851 type 2 diabetes patients were identified in the county of Arhus. A representative sample of 378 patients underwent a routine ocular examination, including fundus photography. Blood pressure and serum haemoglobin A1c, total cholesterol, high density lipoprotein cholesterol, triglyceride and apolipoprotein a were measured. RESULTS: The prevalence of diabetic retinopathy in the type 2 diabetes population was 31.5%. In all, 2.9% had proliferative diabetic retinopathy and 5.3% had clinically significant macular oedema. Of the latter, 8/20 (40%) were newly identified and had not yet been laser-treated. There was a positive correlation between severity of retinopathy and duration of diabetes, HbA(1c), systolic blood pressure and treatment with insulin. None of the patients had social blindness (visual acuity < 0.1), but 15/378 (4.0%) had developed visual impairment (VA < 0.3). CONCLUSION: The prevalence of diabetic retinopathy and visual impairment in this unselected type 2 diabetes population was lower than anticipated from the existing literature, and causes other than diabetic retinopathy contributed significantly to the occurrence of visual loss. A substantial number of the patients with vision-threatening diabetic maculopathy had not been referred for timely photocoagulation treatment.

Macular edema reflects generalized vascular hyperpermeability in type 2 diabetic patients with retinopathy.

OBJECTIVE: Diabetic maculopathy (DMa) is the most prevalent sight-threatening type of retinopathy in type 2 diabetes and a leading cause of visual loss in the western world. The disease is characterized by hyperpermeability of retinal blood vessels and subsequent formation of hard exudates and macular edema, the degree of which can be estimated by measurement of retinal thickness. We examined associations between retinal thickness as evaluated by optical coherence tomography scanning (OCT), glomerular leakage as evaluated by urinary albumin excretion rate (UAE), and general vascular leakage as evaluated by the transcapillary escape rate of albumin (TER(alb)) in type 2 diabetic patients with and without DMa. RESEARCH DESIGN AND METHODS: In 20 type 2 diabetic patients with DMa and 20 type 2 diabetic patients without retinopathy matched for age, sex, and duration of diabetes, we performed OCT, fundus photography, fluorescein angiography, and 24-h ambulatory blood pressure measurement. UAE was determined by radioimmunoassay. TER(alb) was determined as the initial disappearance of intravenously injected (125)I-labeled human serum albumin. RESULTS: Patients with diabetic maculopathy had higher HbA(1c) (8.5 +/- 1.5 vs. 7.4 +/- 1.2%, P < 0.05) and higher total cholesterol (5.8 +/- 0.7 vs. 5.2 +/- 0.9 mmol/l, P < 0.05) than patients without retinopathy. UAE was higher in the DMa group than in the group with no retinopathy (9.3 x// 3.1 vs. 3.9 x// 1.9 micro g/min, P < 0.01). There was no difference in TER(alb) between the two groups (6.0 +/- 1.6 vs. 6.6 +/- 1.5%, NS). In the group with DMa, OCT, TER(alb), and UAE correlated significantly (OCT versus TER(alb): r = 0.55, P < 0.05; OCT versus UAE: r = 0.58, P < 0.01; UAE versus TER(alb): r = 0.81, P < 0.01). Conversely, there were no correlations between these three parameters in the group without retinopathy. CONCLUSIONS: Macular edema seems to reflect a generalized vascular leakage in type 2 diabetic patients.